Full text data of CD99
CD99
(MIC2, MIC2X, MIC2Y)
[Confidence: high (a blood group or CD marker)]
CD99 antigen (12E7; E2 antigen; Protein MIC2; T-cell surface glycoprotein E2; CD99; Flags: Precursor)
CD99 antigen (12E7; E2 antigen; Protein MIC2; T-cell surface glycoprotein E2; CD99; Flags: Precursor)
hRBCD
IPI00253036
IPI00253036 Splice isoform I of P14209 T-cell surface glycoprotein E2 precursor Splice isoform I of P14209 T-cell surface glycoprotein E2 precursor membrane n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a 1 1 n/a n/a 1 n/a n/a n/a n/a n/a integral membrane protein NANAEPAVQR , ENAEQGEVDMESHR found at its expected molecular weight found at molecular weight
IPI00253036 Splice isoform I of P14209 T-cell surface glycoprotein E2 precursor Splice isoform I of P14209 T-cell surface glycoprotein E2 precursor membrane n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a 1 1 n/a n/a 1 n/a n/a n/a n/a n/a integral membrane protein NANAEPAVQR , ENAEQGEVDMESHR found at its expected molecular weight found at molecular weight
BGMUT
xg
1289 xg CD99 CD99 reference reference NM_002414 Darling et al. reference allele 2011-08-09 02:06:12.553 NA
1289 xg CD99 CD99 reference reference NM_002414 Darling et al. reference allele 2011-08-09 02:06:12.553 NA
UniProt
P14209
ID CD99_HUMAN Reviewed; 185 AA.
AC P14209; A6NIW1; O00518; Q6ICV7;
DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JAN-1990, sequence version 1.
DT 22-JAN-2014, entry version 135.
DE RecName: Full=CD99 antigen;
DE AltName: Full=12E7;
DE AltName: Full=E2 antigen;
DE AltName: Full=Protein MIC2;
DE AltName: Full=T-cell surface glycoprotein E2;
DE AltName: CD_antigen=CD99;
DE Flags: Precursor;
GN Name=CD99; Synonyms=MIC2, MIC2X, MIC2Y;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), AND PROTEIN SEQUENCE OF 23-39.
RC TISSUE=T-cell;
RX PubMed=2479542;
RA Gelin C., Aubrit F., Phalipon A., Raynal B., Cole S., Kaczorek M.,
RA Bernard A.;
RT "The E2 antigen, a 32 kd glycoprotein involved in T-cell adhesion
RT processes, is the MIC2 gene product.";
RL EMBO J. 8:3253-3259(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM II).
RA Park S.H., Hahn J.H., Kim M.K., Sohn H.W., Choi E.Y., Kim S.H.;
RT "An alternative splicing form of CD99 (MIC2).";
RL Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM I).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS I AND 3).
RC TISSUE=Brain, Kidney, Lung carcinoma, Skin, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 10-105.
RX PubMed=3472717;
RA Darling S.M., Goodfellow P.J., Pym B., Banting G.S., Pritchard C.,
RA Goodfellow P.N.;
RT "Molecular genetics of MIC2: a gene shared by the human X and Y
RT chromosomes.";
RL Cold Spring Harb. Symp. Quant. Biol. 51:205-212(1986).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-22.
RX PubMed=2456574; DOI=10.1073/pnas.85.15.5605;
RA Goodfellow P.J., Mondello C., Darling S.M., Pym B., Little P.,
RA Goodfellow P.N.;
RT "Absence of methylation of a CpG-rich region at the 5' end of the MIC2
RT gene on the active X, the inactive X, and the Y chromosome.";
RL Proc. Natl. Acad. Sci. U.S.A. 85:5605-5609(1988).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Involved in T-cell adhesion processes and in spontaneous
CC rosette formation with erythrocytes. Plays a role in a late step
CC of leukocyte extravasation helping leukocytes to overcome the
CC endothelial basement membrane. Acts at the same site as, but
CC independently of, PECAM1. Involved in T-cell adhesion processes
CC (By similarity).
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
CC protein (Potential).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=I;
CC IsoId=P14209-1; Sequence=Displayed;
CC Name=II;
CC IsoId=P14209-2; Sequence=VSP_004324;
CC Name=3;
CC IsoId=P14209-3; Sequence=VSP_046315;
CC Note=No experimental confirmation available;
CC -!- PTM: Extensively O-glycosylated.
CC -!- MISCELLANEOUS: The gene coding for this protein is located in the
CC pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
CC -!- SIMILARITY: Belongs to the CD99 family.
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DR EMBL; X16996; CAA34863.1; -; mRNA.
DR EMBL; U82164; AAB58501.1; -; mRNA.
DR EMBL; CR450286; CAG29282.1; -; mRNA.
DR EMBL; AC006209; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471074; EAW98697.1; -; Genomic_DNA.
DR EMBL; CH471074; EAW98698.1; -; Genomic_DNA.
DR EMBL; BC002584; AAH02584.1; -; mRNA.
DR EMBL; BC003147; AAH03147.1; -; mRNA.
DR EMBL; BC010109; AAH10109.1; -; mRNA.
DR EMBL; BC021620; AAH21620.1; -; mRNA.
DR EMBL; BC024310; AAH24310.1; -; mRNA.
DR EMBL; BQ948496; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; M16279; AAA02999.1; -; mRNA.
DR EMBL; J03841; AAA59848.1; -; Genomic_DNA.
DR PIR; S06786; A60592.
DR RefSeq; NP_001116370.1; NM_001122898.1.
DR RefSeq; NP_001264639.1; NM_001277710.1.
DR RefSeq; NP_002405.1; NM_002414.3.
DR RefSeq; XP_005274592.1; XM_005274535.1.
DR RefSeq; XP_005274856.1; XM_005274799.1.
DR UniGene; Hs.653349; -.
DR ProteinModelPortal; P14209; -.
DR IntAct; P14209; 3.
DR MINT; MINT-5004058; -.
DR STRING; 9606.ENSP00000370588; -.
DR PhosphoSite; P14209; -.
DR DMDM; 119049; -.
DR PaxDb; P14209; -.
DR PRIDE; P14209; -.
DR DNASU; 4267; -.
DR Ensembl; ENST00000381187; ENSP00000370582; ENSG00000002586.
DR Ensembl; ENST00000381192; ENSP00000370588; ENSG00000002586.
DR GeneID; 4267; -.
DR KEGG; hsa:4267; -.
DR UCSC; uc010nda.3; human.
DR CTD; 4267; -.
DR GeneCards; GC0XP002602; -.
DR H-InvDB; HIX0177591; -.
DR HGNC; HGNC:7082; CD99.
DR HPA; CAB000020; -.
DR HPA; HPA035304; -.
DR MIM; 313470; gene.
DR MIM; 450000; gene.
DR neXtProt; NX_P14209; -.
DR PharmGKB; PA30804; -.
DR eggNOG; NOG68406; -.
DR HOGENOM; HOG000233665; -.
DR HOVERGEN; HBG067989; -.
DR InParanoid; P14209; -.
DR KO; K06520; -.
DR OMA; ESHRNAN; -.
DR OrthoDB; EOG7QK0GC; -.
DR GeneWiki; CD99; -.
DR GenomeRNAi; 4267; -.
DR NextBio; 16815; -.
DR PMAP-CutDB; P14209; -.
DR PRO; PR:P14209; -.
DR ArrayExpress; P14209; -.
DR Bgee; P14209; -.
DR CleanEx; HS_CD99; -.
DR Genevestigator; P14209; -.
DR GO; GO:0005737; C:cytoplasm; TAS:ProtInc.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
DR InterPro; IPR022078; CD99L2.
DR Pfam; PF12301; CD99L2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell adhesion; Complete proteome;
KW Direct protein sequencing; Glycoprotein; Membrane; Polymorphism;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1 22
FT CHAIN 23 185 CD99 antigen.
FT /FTId=PRO_0000021726.
FT TOPO_DOM 23 122 Extracellular (Potential).
FT TRANSMEM 123 147 Helical; (Potential).
FT TOPO_DOM 148 185 Cytoplasmic (Potential).
FT VAR_SEQ 34 49 Missing (in isoform 3).
FT /FTId=VSP_046315.
FT VAR_SEQ 159 185 AEQGEVDMESHRNANAEPAVQRTLLEK -> DG (in
FT isoform II).
FT /FTId=VSP_004324.
FT VARIANT 166 166 M -> V (in dbSNP:rs11556080).
FT /FTId=VAR_014733.
FT VARIANT 173 173 N -> I (in dbSNP:rs4717).
FT /FTId=VAR_014734.
SQ SEQUENCE 185 AA; 18848 MW; C302E09E6B022EAB CRC64;
MARGAALALL LFGLLGVLVA APDGGFDLSD ALPDNENKKP TAIPKKPSAG DDFDLGDAVV
DGENDDPRPP NPPKPMPNPN PNHPSSSGSF SDADLADGVS GGEGKGGSDG GGSHRKEGEE
ADAPGVIPGI VGAVVVAVAG AISSFIAYQK KKLCFKENAE QGEVDMESHR NANAEPAVQR
TLLEK
//
ID CD99_HUMAN Reviewed; 185 AA.
AC P14209; A6NIW1; O00518; Q6ICV7;
DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-JAN-1990, sequence version 1.
DT 22-JAN-2014, entry version 135.
DE RecName: Full=CD99 antigen;
DE AltName: Full=12E7;
DE AltName: Full=E2 antigen;
DE AltName: Full=Protein MIC2;
DE AltName: Full=T-cell surface glycoprotein E2;
DE AltName: CD_antigen=CD99;
DE Flags: Precursor;
GN Name=CD99; Synonyms=MIC2, MIC2X, MIC2Y;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), AND PROTEIN SEQUENCE OF 23-39.
RC TISSUE=T-cell;
RX PubMed=2479542;
RA Gelin C., Aubrit F., Phalipon A., Raynal B., Cole S., Kaczorek M.,
RA Bernard A.;
RT "The E2 antigen, a 32 kd glycoprotein involved in T-cell adhesion
RT processes, is the MIC2 gene product.";
RL EMBO J. 8:3253-3259(1989).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM II).
RA Park S.H., Hahn J.H., Kim M.K., Sohn H.W., Choi E.Y., Kim S.H.;
RT "An alternative splicing form of CD99 (MIC2).";
RL Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM I).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
RA Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS I AND 3).
RC TISSUE=Brain, Kidney, Lung carcinoma, Skin, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 10-105.
RX PubMed=3472717;
RA Darling S.M., Goodfellow P.J., Pym B., Banting G.S., Pritchard C.,
RA Goodfellow P.N.;
RT "Molecular genetics of MIC2: a gene shared by the human X and Y
RT chromosomes.";
RL Cold Spring Harb. Symp. Quant. Biol. 51:205-212(1986).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-22.
RX PubMed=2456574; DOI=10.1073/pnas.85.15.5605;
RA Goodfellow P.J., Mondello C., Darling S.M., Pym B., Little P.,
RA Goodfellow P.N.;
RT "Absence of methylation of a CpG-rich region at the 5' end of the MIC2
RT gene on the active X, the inactive X, and the Y chromosome.";
RL Proc. Natl. Acad. Sci. U.S.A. 85:5605-5609(1988).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Involved in T-cell adhesion processes and in spontaneous
CC rosette formation with erythrocytes. Plays a role in a late step
CC of leukocyte extravasation helping leukocytes to overcome the
CC endothelial basement membrane. Acts at the same site as, but
CC independently of, PECAM1. Involved in T-cell adhesion processes
CC (By similarity).
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
CC protein (Potential).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=I;
CC IsoId=P14209-1; Sequence=Displayed;
CC Name=II;
CC IsoId=P14209-2; Sequence=VSP_004324;
CC Name=3;
CC IsoId=P14209-3; Sequence=VSP_046315;
CC Note=No experimental confirmation available;
CC -!- PTM: Extensively O-glycosylated.
CC -!- MISCELLANEOUS: The gene coding for this protein is located in the
CC pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
CC -!- SIMILARITY: Belongs to the CD99 family.
CC -----------------------------------------------------------------------
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CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; X16996; CAA34863.1; -; mRNA.
DR EMBL; U82164; AAB58501.1; -; mRNA.
DR EMBL; CR450286; CAG29282.1; -; mRNA.
DR EMBL; AC006209; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471074; EAW98697.1; -; Genomic_DNA.
DR EMBL; CH471074; EAW98698.1; -; Genomic_DNA.
DR EMBL; BC002584; AAH02584.1; -; mRNA.
DR EMBL; BC003147; AAH03147.1; -; mRNA.
DR EMBL; BC010109; AAH10109.1; -; mRNA.
DR EMBL; BC021620; AAH21620.1; -; mRNA.
DR EMBL; BC024310; AAH24310.1; -; mRNA.
DR EMBL; BQ948496; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; M16279; AAA02999.1; -; mRNA.
DR EMBL; J03841; AAA59848.1; -; Genomic_DNA.
DR PIR; S06786; A60592.
DR RefSeq; NP_001116370.1; NM_001122898.1.
DR RefSeq; NP_001264639.1; NM_001277710.1.
DR RefSeq; NP_002405.1; NM_002414.3.
DR RefSeq; XP_005274592.1; XM_005274535.1.
DR RefSeq; XP_005274856.1; XM_005274799.1.
DR UniGene; Hs.653349; -.
DR ProteinModelPortal; P14209; -.
DR IntAct; P14209; 3.
DR MINT; MINT-5004058; -.
DR STRING; 9606.ENSP00000370588; -.
DR PhosphoSite; P14209; -.
DR DMDM; 119049; -.
DR PaxDb; P14209; -.
DR PRIDE; P14209; -.
DR DNASU; 4267; -.
DR Ensembl; ENST00000381187; ENSP00000370582; ENSG00000002586.
DR Ensembl; ENST00000381192; ENSP00000370588; ENSG00000002586.
DR GeneID; 4267; -.
DR KEGG; hsa:4267; -.
DR UCSC; uc010nda.3; human.
DR CTD; 4267; -.
DR GeneCards; GC0XP002602; -.
DR H-InvDB; HIX0177591; -.
DR HGNC; HGNC:7082; CD99.
DR HPA; CAB000020; -.
DR HPA; HPA035304; -.
DR MIM; 313470; gene.
DR MIM; 450000; gene.
DR neXtProt; NX_P14209; -.
DR PharmGKB; PA30804; -.
DR eggNOG; NOG68406; -.
DR HOGENOM; HOG000233665; -.
DR HOVERGEN; HBG067989; -.
DR InParanoid; P14209; -.
DR KO; K06520; -.
DR OMA; ESHRNAN; -.
DR OrthoDB; EOG7QK0GC; -.
DR GeneWiki; CD99; -.
DR GenomeRNAi; 4267; -.
DR NextBio; 16815; -.
DR PMAP-CutDB; P14209; -.
DR PRO; PR:P14209; -.
DR ArrayExpress; P14209; -.
DR Bgee; P14209; -.
DR CleanEx; HS_CD99; -.
DR Genevestigator; P14209; -.
DR GO; GO:0005737; C:cytoplasm; TAS:ProtInc.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
DR InterPro; IPR022078; CD99L2.
DR Pfam; PF12301; CD99L2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell adhesion; Complete proteome;
KW Direct protein sequencing; Glycoprotein; Membrane; Polymorphism;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1 22
FT CHAIN 23 185 CD99 antigen.
FT /FTId=PRO_0000021726.
FT TOPO_DOM 23 122 Extracellular (Potential).
FT TRANSMEM 123 147 Helical; (Potential).
FT TOPO_DOM 148 185 Cytoplasmic (Potential).
FT VAR_SEQ 34 49 Missing (in isoform 3).
FT /FTId=VSP_046315.
FT VAR_SEQ 159 185 AEQGEVDMESHRNANAEPAVQRTLLEK -> DG (in
FT isoform II).
FT /FTId=VSP_004324.
FT VARIANT 166 166 M -> V (in dbSNP:rs11556080).
FT /FTId=VAR_014733.
FT VARIANT 173 173 N -> I (in dbSNP:rs4717).
FT /FTId=VAR_014734.
SQ SEQUENCE 185 AA; 18848 MW; C302E09E6B022EAB CRC64;
MARGAALALL LFGLLGVLVA APDGGFDLSD ALPDNENKKP TAIPKKPSAG DDFDLGDAVV
DGENDDPRPP NPPKPMPNPN PNHPSSSGSF SDADLADGVS GGEGKGGSDG GGSHRKEGEE
ADAPGVIPGI VGAVVVAVAG AISSFIAYQK KKLCFKENAE QGEVDMESHR NANAEPAVQR
TLLEK
//
MIM
313470
*RECORD*
*FIELD* NO
313470
*FIELD* TI
*313470 CD99 ANTIGEN, X CHROMOSOME; CD99
;;MIC2 SURFACE ANTIGEN, X CHROMOSOME; MIC2X;;
read moreCELL SURFACE ANTIGEN 12E7, X CHROMOSOME;;
E2 ANTIGEN, X CHROMOSOME;;
CELL SURFACE ANTIGEN HBA-71, X CHROMOSOME; HBA71;;
CELL SURFACE ANTIGEN O13, X CHROMOSOME;;
MSK5X
*FIELD* TX
DESCRIPTION
CD99 is a 32-kD T-cell surface glycoprotein involved in spontaneous
rosette formation with erythrocytes (Bernard et al., 1988). The gene
encoding CD99 (MIC2X) is located in the pseudoautosomal region (PAR) at
the end of the short arm of the X and Y chromosomes (Goodfellow et al.,
1983). See also MIC2Y (450000).
CLONING
The monoclonal antibody 12E7 was raised against human leukemia T cells.
It detects a 30,000 MW protein which is expressed on all human tissues
tested with the possible exception of spermatozoa (Levy et al., 1979).
Dracopoli et al. (1985) described a monoclonal antibody, O13, that
defines a cell surface antigen that is expressed on most cultured human
cells but not on rodent cells. Glycoproteins of 25,000 and 30,000 MW
were precipitated by O13. Either the X or the Y chromosome in cultured
hybrid cells was sufficient for serologic reactivity with the antiserum.
The gene encoding O13 maps to Xp22-pter and apparently escapes
lyonization. All of these characteristics suggested that O13 was related
or identical to 12E7 and that MSK5X and MSK57 (so-called because the
workers were at Sloan-Kettering) were related or identical to MIC2X and
MIC2Y.
Darling et al. (1986) cloned the MIC2X and MIC2Y genes and concluded
that their sequences are closely related or identical.
Gelin et al. (1989) isolated a 1.11-kb cDNA from a lambda-gt11
expression library by screening with monoclonal antibodies directed
against E2 antigen. The primary structure of E2, deduced from the
nucleotide sequence of its gene, comprises 185 amino acids and is devoid
of N-linked glycosylation sites. The protein displays an organization
typical of an integral membrane protein. Nucleotide sequencing revealed
that E2 is the MIC2 gene product.
MAPPING
Goodfellow et al. (1983) showed that the gene for the E2 antigen, called
MIC2 (M = monoclonal; IC = Imperial Cancer Research Fund; 2 = order of
discovery), maps to the band between Xp22.3 and Xpter, where the STS
(300747) and Xg (300879) genes are located. Goodfellow et al. (1984)
showed that the MIC2X locus, like Xg and STS, escapes lyonization. They
identified a homologous locus on the Y chromosome (MIC2Y; 45000) in the
euchromatin region Ypter-q11.1. This was the first instance of a clear
Y-linked structural gene.
Curry et al. (1984) found that the STS, Xg, and MIC2X loci as well as
the locus for X-linked chondrodysplasia punctata (302950) were
apparently absent in males with deletion of Xp22.32.
By in situ hybridization, Buckle et al. (1985) showed that MIC2Y is
located on the distal part of Yp, namely, Ypter-p11.2.
On the basis of an X/Y translocation in which STS activity was retained
with the X chromosome (selected by fusion with an HPRT-deficient mouse
cell line) but MIC2X was lost, Geller et al. (1986) concluded that MIC2X
is distal to STS.
- Pseudogene
Mangs and Morris (2007) stated that the sequence identified by Smith and
Goodfellow (1994) as MIC2R (CD99L1) is a pseudogene that shares 78%
sequence homology with MIC2 (CD99). Smith and Goodfellow (1994) had
detected sequences related to exons 1, 4, and 5 of MIC2 on the X and Y
chromosomes of humans and other primate species. Isolation of these
sequences defined the MIC2R (MIC2-related) locus, which is associated
with the second-most proximal CpG-rich island in the human
pseudoautosomal region. Genomic sequences from the MIC2R locus showed
that it is composed of a single sequence related to exon 1 and at least
4 tandem copies of sequences related to exons 4 and 5 of MIC2.
Comparison of the 4 sequences related to exons 4 and 5 suggested that
they are the result of sequential duplication of a 2.8-kb region during
evolution. Smith and Goodfellow (1994) detected transcripts from the
MIC2R locus in at least 10 adult and fetal tissues, and a number of
different transcripts appear to be generated by alternative RNA
splicing. Since none of the transcripts they analyzed contained a
significant open reading frame, the function of the MIC2R locus remained
unknown.
GENE FUNCTION
Gelin et al. (1989) found that Xg(a-) females (see 314700) have no E2
molecule on the surface of their red cells, in contrast with Xg(a+)
individuals, but have the molecule in their cytoplasm, in the form of
the 28-kD precursor. Thus, the MIC2 gene encodes a cell surface molecule
involved in T-cell adhesion processes.
Kovar et al. (1990) noted that Ewing sarcoma and other PNE tumors
express high amounts of a glycoprotein on their cell surface, which
could be specifically detected by the monoclonal antibody HBA-71. They
identified this glycoprotein as the product of the pseudoautosomal gene
CD99. Kovar et al. (1990) presented evidence that CD99 is expressed at
low levels in most, if not all, human cells and normal tissues. Because
expression of CD99 is significantly enhanced in ES and PNET cells, they
suggested that detection of the antigen by immunocytochemical analysis
might be a useful tool in tumor diagnosis. Khoury (2005) stated that
strong diffuse CD99 immunostaining constitutes a useful positive marker
for the Ewing sarcoma family of tumors.
Goodfellow et al. (1987) presented evidence suggesting the existence of
a pseudoautosomal locus, XGR (314705), that regulates expression of MIC2
and XG.
Using flow cytometry and Western and Northern blot analyses, Fouchet et
al. (2000) provided a quantitative estimation of XG and CD99 on human
erythrocytes. Their findings supported the hypothesis of genetic control
of XG and CD99 expression by the hypothetical XGR locus.
Fouchet et al. (2000) examined coexpression of human XG and CD99 cDNAs
in transfected mouse cells, either in double transfectants or in somatic
hybrids from single transfectants. Their findings were consistent with
transcriptional coregulation of XG and CD99 expression, because no
influence of either protein on the surface production of the other was
observed. In addition, Fouchet et al. (2000) found no evidence of
association or complex formation between XG and CD99 on transfected
mouse cells or human erythrocytes.
Using flow cytometric analysis, Pettersen et al. (2001) demonstrated
that activation of a distinct domain of CD99 activates a
caspase-independent death pathway in T cells. Ligation of FAS (TNFRSF6;
134637) and TRAIL (TNFSF10; 603598) death receptors was less effective
than CD99 ligation in controlling transformed T cells.
Bixel et al. (2010) found that antibodies against mouse Cd99 or Pecam1
(173445) trapped neutrophils between endothelial cells in vitro. In
contrast, electron and 3-dimensional confocal microscopy of inflamed
cremaster demonstrated that antibodies against Cd99 or Cd99l2 (300846)
or Pecam1 gene deletion led to accumulation of neutrophils in vivo
between endothelial cells and basement membrane rather than between
endothelial cells. Antibodies against Cd99 or Cd99l2 in combination with
Pecam1 deficiency resulted in additive inhibitory effects on leukocyte
extravasation in 2 different inflammation models. Bixel et al. (2010)
concluded that CD99 and CD99L2 act independently of PECAM1 but at the
same site during diapedesis, i.e., between endothelial cells and the
basement membrane.
HISTORY
Polymorphism at the Xg locus and the Yg locus shows similar allele
frequencies. This could be due to chance, to selection, or to
recombination between the X and Y chromosomes (Burgoyne, 1982).
Tippett et al. (1986) presented family and sibship analysis to prove
that the 12E7 quantitative polymorphism of red cells is controlled by
the Y-borne locus, Yg, in addition to the X-borne locus, Xg. X-Y
recombination was invoked to explain the apparent exception to Y-borne
control in 1 family.
Goodfellow et al. (1986) stated that MIC2 recombines with TDF
(testis-determining factor) at a frequency of 2 to 3%. MIC2 was the most
proximal autosomal locus described to that time and a useful marker in
studies directed toward isolation of TDF. The order of Y-specific
sequences located proximal to the sex-determining gene(s), and therefore
not pseudoautosomal, has been determined on the basis of their presence
or absence in DNA from XX males, and the order of pseudoautosomal loci
situated distal to TDF has been established through family studies such
as those presented by Goodfellow et al. (1986).
During meiosis, pairing of the X and Y begins at the ends of the short
arms. Cooke et al. (1985) found sequence homology in the pairing regions
of the human X and Y. Because of a high order of polymorphism, they
could do family studies which showed what they termed 'pseudoautosomal'
inheritance, whereas Cooke et al. (1985) used repetitive sequences for
this demonstration. Simmler et al. (1985) used a single-copy genomic DNA
fragment which occurred in different allelic forms shared by both sex
chromosomes. Homologous segments of the X and Y have been suspected
because the 2 have a common ancestral origin; there is karyologic
evidence for pairing and crossing-over and, in man, the Turner phenotype
suggests deficiency of genetic material located on the second sex
chromosome.
*FIELD* SA
Banting et al. (1985); Goodfellow and Tippett (1981); Ropers et al.
(1985)
*FIELD* RF
1. Banting, G. S.; Pym, B.; Goodfellow, P. N.: Biochemical analysis
of an antigen produced by both human sex chromosomes. EMBO J. 4:
1967-1972, 1985.
2. Bernard, A.; Aubrit, A.; Raynal, B.; Phan, D.; Boumsell, L.: A
T cell surface molecule different from CD2 is involved in spontaneous
rosette formation with erythrocytes. J. Immun. 140: 1802-1807, 1988.
3. Bixel, M. G.; Li, H.; Petri, B.; Khandoga, A. G.; Khandoga, A.;
Zarbock, A.; Wolburg-Buchholz, K.; Wolburg, H.; Sorokin, L.; Zeuschner,
D.; Maerz, S.; Butz, S.; Krombach, F.; Vestweber, D.: CD99 and CD99L2
act at the same site as, but independently of, PECAM-1 during leukocyte
diapedesis. Blood 116: 1172-1184, 2010.
4. Buckle, V.; Mondello, C.; Darling, S.; Craig, I. W.; Goodfellow,
P. N.: Homologous expressed genes in the human sex chromosome pairing
region. Nature 317: 739-741, 1985.
5. Burgoyne, P. S.: Genetic homology and crossing over in the X and
Y chromosomes of mammals. Hum. Genet. 61: 85-90, 1982.
6. Cooke, H. J.; Brown, W. R. A.; Rappold, G. A.: Hypervariable telomeric
sequences from the human sex chromosomes are pseudoautosomal. Nature 317:
687-692, 1985.
7. Curry, C. J. R.; Magenis, R. E.; Brown, M.; Lanman, J. T., Jr.;
Tsai, J.; O'Lague, P.; Goodfellow, P.; Mohandas, T.; Bergner, E. A.;
Shapiro, L. J.: Inherited chondrodysplasia punctata due to a deletion
of the terminal short arm of an X chromosome. New Eng. J. Med. 311:
1010-1015, 1984.
8. Darling, S. M.; Banting, G. S.; Pym, B.; Wolfe, J.; Goodfellow,
P. N.: Cloning an expressed gene shared by the human sex chromosomes. Proc.
Nat. Acad. Sci. 83: 135-139, 1986.
9. Dracopoli, N. C.; Rettig, W. J.; Albino, A. P.; Esposito, D.; Archidiacono,
N.; Rocchi, M.; Siniscalco, M.; Old, L. J.: Genes controlling gp25/30
cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am.
J. Hum. Genet. 37: 199-207, 1985.
10. Fouchet, C.; Gane, P.; Cartron, J.-P.; Lopez, C.: Quantitative
analysis of XG blood group and CD99 antigens on human red cells. Immunogenetics 51:
688-694, 2000.
11. Fouchet, C.; Gane, P.; Huet, M.; Fellous, M.; Rouger, P.; Banting,
G.; Cartron, J.-P.; Lopez, C. A study of the coregulation and tissue
specificity of XG and MIC2 gene expression in eukaryotic cells. Blood 95:
1819-1826, 2000.
12. Gelin, C.; Aubrit, F.; Phalipon, A.; Raynal, B.; Cole, S.; Kaczorek,
M.; Bernard, A.: The E2 antigen, a 32 kD glycoprotein involved in
T-cell adhesion processes, is the MIC2 gene product. EMBO J. 8:
3253-3259, 1989.
13. Geller, R. L.; Shapiro, L. J.; Mohandas, T. K.: Fine mapping
of the distal short arm of the human X chromosome using X/Y translocations. Am.
J. Hum. Genet. 38: 884-890, 1986.
14. Goodfellow, P.; Banting, G.; Sheer, D.; Ropers, H. H.; Caine,
A.; Ferguson-Smith, M. A.; Povey, S.; Voss, R.: Genetic evidence
that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302:
346-349, 1983.
15. Goodfellow, P.; Pym, B.; Mohandas, T.; Shapiro, L. J.: The cell
surface antigen locus, MIC2X, escapes X-inactivation. Am. J. Hum.
Genet. 36: 777-782, 1984.
16. Goodfellow, P. J.; Darling, S. M.; Thomas, N. S.; Goodfellow,
P. N.: A pseudoautosomal gene in man. Science 234: 740-743, 1986.
17. Goodfellow, P. J.; Pritchard, C.; Tippett, P.; Goodfellow, P.
N.: Recombination between the X and Y chromosomes: implications for
the relationship between MIC2, XG and YG. Ann. Hum. Genet. 51: 161-167,
1987.
18. Goodfellow, P. N.; Tippett, P.: A human quantitative polymorphism
related to Xg blood groups. Nature 289: 404-405, 1981.
19. Khoury, J. D.: Ewing sarcoma family of tumors. Adv. Anat. Path. 12:
212-220, 2005.
20. Kovar, H.; Dworzak, M.; Strehl, S.; Schnell, E.; Ambros, I. M.;
Ambros, P. F.; Gadner, H.: Overexpression of the pseudoautosomal
gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal
tumor. Oncogene 5: 1067-1070, 1990.
21. Levy, R.; Dilley, J.; Fox, R. I.; Warnke, R.: A human thymus-leukemia
antigen defined by hybridoma monoclonal antibodies. Proc. Nat. Acad.
Sci. 76: 6552-6556, 1979.
22. Mangs, A. H.; Morris, B. J.: The human pseudoautosomal region
(PAR): origin, function and future. Curr. Genomics 8: 129-136, 2007.
23. Pettersen, R. D.; Bernard, G.; Olafsen, M. K.; Pourtein, M.; Lie,
S. O.: CD99 signals caspase-independent T cell death. J. Immun. 166:
4931-4942, 2001.
24. Ropers, H. H.; Zimmer, J.; Strobl, G.; Goodfellow, P.: The MIC2X
(12E7) locus maps distally from STS on Xp. (Abstract) Cytogenet.
Cell Genet. 40: 736 only, 1985.
25. Simmler, M.-C.; Rouyer, F.; Vergnaud, G.; Nystrom-Lahti, M.; Ngo,
K. Y.; de la Chapelle, A.; Weissenbach, J.: Pseudoautosomal DNA sequences
in the pairing region of the human sex chromosomes. Nature 317:
692-697, 1985.
26. Smith, M. J.; Goodfellow, P. N.: MIC2R: a transcribed MIC2-related
sequence associated with a CpG island in the human pseudoautosomal
region. Hum. Molec. Genet. 3: 1575-1582, 1994.
27. Tippett, P.; Shaw, M.-A.; Green, C. A.; Daniels, G. L.: The 12E7
red cell quantitative polymorphism: control by the Y-borne locus,
Yg. Ann. Hum. Genet. 50: 339-347, 1986.
*FIELD* CN
Matthew B. Gross - updated: 09/11/2012
Paul J. Converse - updated: 6/16/2011
Paul J. Converse - updated: 11/2/2001
*FIELD* CD
Victor A. McKusick: 6/4/1986
*FIELD* ED
mgross: 09/11/2012
mgross: 9/11/2012
mgross: 6/21/2011
terry: 6/16/2011
carol: 8/31/2009
joanna: 8/26/2009
carol: 10/31/2008
carol: 3/11/2003
mgross: 11/2/2001
carol: 9/16/1999
carol: 9/30/1998
terry: 11/17/1994
carol: 5/11/1994
mimadm: 2/28/1994
carol: 9/10/1992
supermim: 3/17/1992
carol: 3/8/1992
*RECORD*
*FIELD* NO
313470
*FIELD* TI
*313470 CD99 ANTIGEN, X CHROMOSOME; CD99
;;MIC2 SURFACE ANTIGEN, X CHROMOSOME; MIC2X;;
read moreCELL SURFACE ANTIGEN 12E7, X CHROMOSOME;;
E2 ANTIGEN, X CHROMOSOME;;
CELL SURFACE ANTIGEN HBA-71, X CHROMOSOME; HBA71;;
CELL SURFACE ANTIGEN O13, X CHROMOSOME;;
MSK5X
*FIELD* TX
DESCRIPTION
CD99 is a 32-kD T-cell surface glycoprotein involved in spontaneous
rosette formation with erythrocytes (Bernard et al., 1988). The gene
encoding CD99 (MIC2X) is located in the pseudoautosomal region (PAR) at
the end of the short arm of the X and Y chromosomes (Goodfellow et al.,
1983). See also MIC2Y (450000).
CLONING
The monoclonal antibody 12E7 was raised against human leukemia T cells.
It detects a 30,000 MW protein which is expressed on all human tissues
tested with the possible exception of spermatozoa (Levy et al., 1979).
Dracopoli et al. (1985) described a monoclonal antibody, O13, that
defines a cell surface antigen that is expressed on most cultured human
cells but not on rodent cells. Glycoproteins of 25,000 and 30,000 MW
were precipitated by O13. Either the X or the Y chromosome in cultured
hybrid cells was sufficient for serologic reactivity with the antiserum.
The gene encoding O13 maps to Xp22-pter and apparently escapes
lyonization. All of these characteristics suggested that O13 was related
or identical to 12E7 and that MSK5X and MSK57 (so-called because the
workers were at Sloan-Kettering) were related or identical to MIC2X and
MIC2Y.
Darling et al. (1986) cloned the MIC2X and MIC2Y genes and concluded
that their sequences are closely related or identical.
Gelin et al. (1989) isolated a 1.11-kb cDNA from a lambda-gt11
expression library by screening with monoclonal antibodies directed
against E2 antigen. The primary structure of E2, deduced from the
nucleotide sequence of its gene, comprises 185 amino acids and is devoid
of N-linked glycosylation sites. The protein displays an organization
typical of an integral membrane protein. Nucleotide sequencing revealed
that E2 is the MIC2 gene product.
MAPPING
Goodfellow et al. (1983) showed that the gene for the E2 antigen, called
MIC2 (M = monoclonal; IC = Imperial Cancer Research Fund; 2 = order of
discovery), maps to the band between Xp22.3 and Xpter, where the STS
(300747) and Xg (300879) genes are located. Goodfellow et al. (1984)
showed that the MIC2X locus, like Xg and STS, escapes lyonization. They
identified a homologous locus on the Y chromosome (MIC2Y; 45000) in the
euchromatin region Ypter-q11.1. This was the first instance of a clear
Y-linked structural gene.
Curry et al. (1984) found that the STS, Xg, and MIC2X loci as well as
the locus for X-linked chondrodysplasia punctata (302950) were
apparently absent in males with deletion of Xp22.32.
By in situ hybridization, Buckle et al. (1985) showed that MIC2Y is
located on the distal part of Yp, namely, Ypter-p11.2.
On the basis of an X/Y translocation in which STS activity was retained
with the X chromosome (selected by fusion with an HPRT-deficient mouse
cell line) but MIC2X was lost, Geller et al. (1986) concluded that MIC2X
is distal to STS.
- Pseudogene
Mangs and Morris (2007) stated that the sequence identified by Smith and
Goodfellow (1994) as MIC2R (CD99L1) is a pseudogene that shares 78%
sequence homology with MIC2 (CD99). Smith and Goodfellow (1994) had
detected sequences related to exons 1, 4, and 5 of MIC2 on the X and Y
chromosomes of humans and other primate species. Isolation of these
sequences defined the MIC2R (MIC2-related) locus, which is associated
with the second-most proximal CpG-rich island in the human
pseudoautosomal region. Genomic sequences from the MIC2R locus showed
that it is composed of a single sequence related to exon 1 and at least
4 tandem copies of sequences related to exons 4 and 5 of MIC2.
Comparison of the 4 sequences related to exons 4 and 5 suggested that
they are the result of sequential duplication of a 2.8-kb region during
evolution. Smith and Goodfellow (1994) detected transcripts from the
MIC2R locus in at least 10 adult and fetal tissues, and a number of
different transcripts appear to be generated by alternative RNA
splicing. Since none of the transcripts they analyzed contained a
significant open reading frame, the function of the MIC2R locus remained
unknown.
GENE FUNCTION
Gelin et al. (1989) found that Xg(a-) females (see 314700) have no E2
molecule on the surface of their red cells, in contrast with Xg(a+)
individuals, but have the molecule in their cytoplasm, in the form of
the 28-kD precursor. Thus, the MIC2 gene encodes a cell surface molecule
involved in T-cell adhesion processes.
Kovar et al. (1990) noted that Ewing sarcoma and other PNE tumors
express high amounts of a glycoprotein on their cell surface, which
could be specifically detected by the monoclonal antibody HBA-71. They
identified this glycoprotein as the product of the pseudoautosomal gene
CD99. Kovar et al. (1990) presented evidence that CD99 is expressed at
low levels in most, if not all, human cells and normal tissues. Because
expression of CD99 is significantly enhanced in ES and PNET cells, they
suggested that detection of the antigen by immunocytochemical analysis
might be a useful tool in tumor diagnosis. Khoury (2005) stated that
strong diffuse CD99 immunostaining constitutes a useful positive marker
for the Ewing sarcoma family of tumors.
Goodfellow et al. (1987) presented evidence suggesting the existence of
a pseudoautosomal locus, XGR (314705), that regulates expression of MIC2
and XG.
Using flow cytometry and Western and Northern blot analyses, Fouchet et
al. (2000) provided a quantitative estimation of XG and CD99 on human
erythrocytes. Their findings supported the hypothesis of genetic control
of XG and CD99 expression by the hypothetical XGR locus.
Fouchet et al. (2000) examined coexpression of human XG and CD99 cDNAs
in transfected mouse cells, either in double transfectants or in somatic
hybrids from single transfectants. Their findings were consistent with
transcriptional coregulation of XG and CD99 expression, because no
influence of either protein on the surface production of the other was
observed. In addition, Fouchet et al. (2000) found no evidence of
association or complex formation between XG and CD99 on transfected
mouse cells or human erythrocytes.
Using flow cytometric analysis, Pettersen et al. (2001) demonstrated
that activation of a distinct domain of CD99 activates a
caspase-independent death pathway in T cells. Ligation of FAS (TNFRSF6;
134637) and TRAIL (TNFSF10; 603598) death receptors was less effective
than CD99 ligation in controlling transformed T cells.
Bixel et al. (2010) found that antibodies against mouse Cd99 or Pecam1
(173445) trapped neutrophils between endothelial cells in vitro. In
contrast, electron and 3-dimensional confocal microscopy of inflamed
cremaster demonstrated that antibodies against Cd99 or Cd99l2 (300846)
or Pecam1 gene deletion led to accumulation of neutrophils in vivo
between endothelial cells and basement membrane rather than between
endothelial cells. Antibodies against Cd99 or Cd99l2 in combination with
Pecam1 deficiency resulted in additive inhibitory effects on leukocyte
extravasation in 2 different inflammation models. Bixel et al. (2010)
concluded that CD99 and CD99L2 act independently of PECAM1 but at the
same site during diapedesis, i.e., between endothelial cells and the
basement membrane.
HISTORY
Polymorphism at the Xg locus and the Yg locus shows similar allele
frequencies. This could be due to chance, to selection, or to
recombination between the X and Y chromosomes (Burgoyne, 1982).
Tippett et al. (1986) presented family and sibship analysis to prove
that the 12E7 quantitative polymorphism of red cells is controlled by
the Y-borne locus, Yg, in addition to the X-borne locus, Xg. X-Y
recombination was invoked to explain the apparent exception to Y-borne
control in 1 family.
Goodfellow et al. (1986) stated that MIC2 recombines with TDF
(testis-determining factor) at a frequency of 2 to 3%. MIC2 was the most
proximal autosomal locus described to that time and a useful marker in
studies directed toward isolation of TDF. The order of Y-specific
sequences located proximal to the sex-determining gene(s), and therefore
not pseudoautosomal, has been determined on the basis of their presence
or absence in DNA from XX males, and the order of pseudoautosomal loci
situated distal to TDF has been established through family studies such
as those presented by Goodfellow et al. (1986).
During meiosis, pairing of the X and Y begins at the ends of the short
arms. Cooke et al. (1985) found sequence homology in the pairing regions
of the human X and Y. Because of a high order of polymorphism, they
could do family studies which showed what they termed 'pseudoautosomal'
inheritance, whereas Cooke et al. (1985) used repetitive sequences for
this demonstration. Simmler et al. (1985) used a single-copy genomic DNA
fragment which occurred in different allelic forms shared by both sex
chromosomes. Homologous segments of the X and Y have been suspected
because the 2 have a common ancestral origin; there is karyologic
evidence for pairing and crossing-over and, in man, the Turner phenotype
suggests deficiency of genetic material located on the second sex
chromosome.
*FIELD* SA
Banting et al. (1985); Goodfellow and Tippett (1981); Ropers et al.
(1985)
*FIELD* RF
1. Banting, G. S.; Pym, B.; Goodfellow, P. N.: Biochemical analysis
of an antigen produced by both human sex chromosomes. EMBO J. 4:
1967-1972, 1985.
2. Bernard, A.; Aubrit, A.; Raynal, B.; Phan, D.; Boumsell, L.: A
T cell surface molecule different from CD2 is involved in spontaneous
rosette formation with erythrocytes. J. Immun. 140: 1802-1807, 1988.
3. Bixel, M. G.; Li, H.; Petri, B.; Khandoga, A. G.; Khandoga, A.;
Zarbock, A.; Wolburg-Buchholz, K.; Wolburg, H.; Sorokin, L.; Zeuschner,
D.; Maerz, S.; Butz, S.; Krombach, F.; Vestweber, D.: CD99 and CD99L2
act at the same site as, but independently of, PECAM-1 during leukocyte
diapedesis. Blood 116: 1172-1184, 2010.
4. Buckle, V.; Mondello, C.; Darling, S.; Craig, I. W.; Goodfellow,
P. N.: Homologous expressed genes in the human sex chromosome pairing
region. Nature 317: 739-741, 1985.
5. Burgoyne, P. S.: Genetic homology and crossing over in the X and
Y chromosomes of mammals. Hum. Genet. 61: 85-90, 1982.
6. Cooke, H. J.; Brown, W. R. A.; Rappold, G. A.: Hypervariable telomeric
sequences from the human sex chromosomes are pseudoautosomal. Nature 317:
687-692, 1985.
7. Curry, C. J. R.; Magenis, R. E.; Brown, M.; Lanman, J. T., Jr.;
Tsai, J.; O'Lague, P.; Goodfellow, P.; Mohandas, T.; Bergner, E. A.;
Shapiro, L. J.: Inherited chondrodysplasia punctata due to a deletion
of the terminal short arm of an X chromosome. New Eng. J. Med. 311:
1010-1015, 1984.
8. Darling, S. M.; Banting, G. S.; Pym, B.; Wolfe, J.; Goodfellow,
P. N.: Cloning an expressed gene shared by the human sex chromosomes. Proc.
Nat. Acad. Sci. 83: 135-139, 1986.
9. Dracopoli, N. C.; Rettig, W. J.; Albino, A. P.; Esposito, D.; Archidiacono,
N.; Rocchi, M.; Siniscalco, M.; Old, L. J.: Genes controlling gp25/30
cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am.
J. Hum. Genet. 37: 199-207, 1985.
10. Fouchet, C.; Gane, P.; Cartron, J.-P.; Lopez, C.: Quantitative
analysis of XG blood group and CD99 antigens on human red cells. Immunogenetics 51:
688-694, 2000.
11. Fouchet, C.; Gane, P.; Huet, M.; Fellous, M.; Rouger, P.; Banting,
G.; Cartron, J.-P.; Lopez, C. A study of the coregulation and tissue
specificity of XG and MIC2 gene expression in eukaryotic cells. Blood 95:
1819-1826, 2000.
12. Gelin, C.; Aubrit, F.; Phalipon, A.; Raynal, B.; Cole, S.; Kaczorek,
M.; Bernard, A.: The E2 antigen, a 32 kD glycoprotein involved in
T-cell adhesion processes, is the MIC2 gene product. EMBO J. 8:
3253-3259, 1989.
13. Geller, R. L.; Shapiro, L. J.; Mohandas, T. K.: Fine mapping
of the distal short arm of the human X chromosome using X/Y translocations. Am.
J. Hum. Genet. 38: 884-890, 1986.
14. Goodfellow, P.; Banting, G.; Sheer, D.; Ropers, H. H.; Caine,
A.; Ferguson-Smith, M. A.; Povey, S.; Voss, R.: Genetic evidence
that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302:
346-349, 1983.
15. Goodfellow, P.; Pym, B.; Mohandas, T.; Shapiro, L. J.: The cell
surface antigen locus, MIC2X, escapes X-inactivation. Am. J. Hum.
Genet. 36: 777-782, 1984.
16. Goodfellow, P. J.; Darling, S. M.; Thomas, N. S.; Goodfellow,
P. N.: A pseudoautosomal gene in man. Science 234: 740-743, 1986.
17. Goodfellow, P. J.; Pritchard, C.; Tippett, P.; Goodfellow, P.
N.: Recombination between the X and Y chromosomes: implications for
the relationship between MIC2, XG and YG. Ann. Hum. Genet. 51: 161-167,
1987.
18. Goodfellow, P. N.; Tippett, P.: A human quantitative polymorphism
related to Xg blood groups. Nature 289: 404-405, 1981.
19. Khoury, J. D.: Ewing sarcoma family of tumors. Adv. Anat. Path. 12:
212-220, 2005.
20. Kovar, H.; Dworzak, M.; Strehl, S.; Schnell, E.; Ambros, I. M.;
Ambros, P. F.; Gadner, H.: Overexpression of the pseudoautosomal
gene MIC2 in Ewing's sarcoma and peripheral primitive neuroectodermal
tumor. Oncogene 5: 1067-1070, 1990.
21. Levy, R.; Dilley, J.; Fox, R. I.; Warnke, R.: A human thymus-leukemia
antigen defined by hybridoma monoclonal antibodies. Proc. Nat. Acad.
Sci. 76: 6552-6556, 1979.
22. Mangs, A. H.; Morris, B. J.: The human pseudoautosomal region
(PAR): origin, function and future. Curr. Genomics 8: 129-136, 2007.
23. Pettersen, R. D.; Bernard, G.; Olafsen, M. K.; Pourtein, M.; Lie,
S. O.: CD99 signals caspase-independent T cell death. J. Immun. 166:
4931-4942, 2001.
24. Ropers, H. H.; Zimmer, J.; Strobl, G.; Goodfellow, P.: The MIC2X
(12E7) locus maps distally from STS on Xp. (Abstract) Cytogenet.
Cell Genet. 40: 736 only, 1985.
25. Simmler, M.-C.; Rouyer, F.; Vergnaud, G.; Nystrom-Lahti, M.; Ngo,
K. Y.; de la Chapelle, A.; Weissenbach, J.: Pseudoautosomal DNA sequences
in the pairing region of the human sex chromosomes. Nature 317:
692-697, 1985.
26. Smith, M. J.; Goodfellow, P. N.: MIC2R: a transcribed MIC2-related
sequence associated with a CpG island in the human pseudoautosomal
region. Hum. Molec. Genet. 3: 1575-1582, 1994.
27. Tippett, P.; Shaw, M.-A.; Green, C. A.; Daniels, G. L.: The 12E7
red cell quantitative polymorphism: control by the Y-borne locus,
Yg. Ann. Hum. Genet. 50: 339-347, 1986.
*FIELD* CN
Matthew B. Gross - updated: 09/11/2012
Paul J. Converse - updated: 6/16/2011
Paul J. Converse - updated: 11/2/2001
*FIELD* CD
Victor A. McKusick: 6/4/1986
*FIELD* ED
mgross: 09/11/2012
mgross: 9/11/2012
mgross: 6/21/2011
terry: 6/16/2011
carol: 8/31/2009
joanna: 8/26/2009
carol: 10/31/2008
carol: 3/11/2003
mgross: 11/2/2001
carol: 9/16/1999
carol: 9/30/1998
terry: 11/17/1994
carol: 5/11/1994
mimadm: 2/28/1994
carol: 9/10/1992
supermim: 3/17/1992
carol: 3/8/1992
MIM
450000
*RECORD*
*FIELD* NO
450000
*FIELD* TI
*450000 CD99 ANTIGEN, Y CHROMOSOME
;;MIC2 SURFACE ANTIGEN, Y CHROMOSOME; MIC2Y;;
CELL SURFACE ANTIGEN 12E7, Y CHROMOSOME;;
read moreCELL SURFACE ANTIGEN HBA-71, Y CHROMOSOME; HBA71;;
E2 ANTIGEN, Y CHROMOSOME;;
CELL SURFACE ANTIGEN O13, Y CHROMOSOME
*FIELD* TX
DESCRIPTION
CD99 is a 32-kD T-cell surface glycoprotein involved in spontaneous
rosette formation with erythrocytes (Bernard et al., 1988). The gene
encoding CD99 is located in the pseudoautosomal region (PAR) at the end
of the short arm of the X and Y chromosomes (Goodfellow et al., 1983).
For information on the cloning and function of CD99, see 313470.
MAPPING
Goodfellow et al. (1983) showed that the gene for the E2 antigen, called
MIC2 (M = monoclonal; IC = Imperial Cancer Research Fund; 2 = order of
discovery), maps to the band between Xp22.3 and Xpter, the same as STS
(300747) and Xg (314700). A surprising finding of their study was that
of a homologous locus on the Y chromosome in the euchromatin region
Ypter-q11.1. This was the first instance of a clear Y-linked structural
gene. Dracopoli et al. (1985) described a monoclonal antibody, O13, that
appeared to recognize the same antigen determined by the X and Y genes.
Darling et al. (1986) cloned the MIC2X and MIC2Y genes and concluded
that their sequences are closely related or identical.
By in situ hybridization, Buckle et al. (1985) showed that MIC2Y is
located on the distal part of Yp, namely, Ypter-p11.2.
On the basis of an X/Y translocation in which STS activity was retained
with the X chromosome (selected by fusion with an HPRT-deficient mouse
cell line) but MIC2X was lost, Geller et al. (1986) concluded that MIC2X
is distal to STS. The order of Y-specific sequences located centromeric
to the sex-determining gene(s), and therefore not pseudoautosomal, was
determined on the basis of their presence or absence in DNA from XX
males, and the order of pseudoautosomal loci situated distal to TDF was
established on the basis of family studies such as those presented by
Goodfellow et al. (1986).
*FIELD* RF
1. Bernard, A.; Aubrit, A.; Raynal, B.; Phan, D.; Boumsell, L.: A
T cell surface molecule different from CD2 is involved in spontaneous
rosette formation with erythrocytes. J. Immun. 140: 1802-1807, 1988.
2. Buckle, V.; Mondello, C.; Darling, S.; Craig, I. W.; Goodfellow,
P. N.: Homologous expressed genes in the human sex chromosome pairing
region. Nature 317: 739-741, 1985.
3. Darling, S. M.; Banting, G. S.; Pym, B.; Wolfe, J.; Goodfellow,
P. N.: Cloning an expressed gene shared by the human sex chromosomes. Proc.
Nat. Acad. Sci. 83: 135-139, 1986.
4. Dracopoli, N. C.; Rettig, W. J.; Albino, A. P.; Esposito, D.; Archidiacono,
N.; Rocchi, M.; Siniscalco, M.; Old, L. J.: Genes controlling gp25/30
cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am.
J. Hum. Genet. 37: 199-207, 1985.
5. Geller, R. L.; Shapiro, L. J.; Mohandas, T. K.: Fine mapping of
the distal short arm of the human X chromosome using X/Y translocations. Am.
J. Hum. Genet. 38: 884-890, 1986.
6. Goodfellow, P.; Banting, G.; Sheer, D.; Ropers, H. H.; Caine, A.;
Ferguson-Smith, M. A.; Povey, S.; Voss, R.: Genetic evidence that
a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302:
346-349, 1983.
7. Goodfellow, P. J.; Darling, S. M.; Thomas, N. S.; Goodfellow, P.
N.: A pseudoautosomal gene in man. Science 234: 740-743, 1986.
*FIELD* CD
Victor A. McKusick: 9/14/1992
*FIELD* ED
carol: 08/31/2009
joanna: 8/26/2009
carol: 10/31/2008
joanna: 7/8/1996
mimadm: 3/11/1994
carol: 9/22/1992
carol: 9/14/1992
*RECORD*
*FIELD* NO
450000
*FIELD* TI
*450000 CD99 ANTIGEN, Y CHROMOSOME
;;MIC2 SURFACE ANTIGEN, Y CHROMOSOME; MIC2Y;;
CELL SURFACE ANTIGEN 12E7, Y CHROMOSOME;;
read moreCELL SURFACE ANTIGEN HBA-71, Y CHROMOSOME; HBA71;;
E2 ANTIGEN, Y CHROMOSOME;;
CELL SURFACE ANTIGEN O13, Y CHROMOSOME
*FIELD* TX
DESCRIPTION
CD99 is a 32-kD T-cell surface glycoprotein involved in spontaneous
rosette formation with erythrocytes (Bernard et al., 1988). The gene
encoding CD99 is located in the pseudoautosomal region (PAR) at the end
of the short arm of the X and Y chromosomes (Goodfellow et al., 1983).
For information on the cloning and function of CD99, see 313470.
MAPPING
Goodfellow et al. (1983) showed that the gene for the E2 antigen, called
MIC2 (M = monoclonal; IC = Imperial Cancer Research Fund; 2 = order of
discovery), maps to the band between Xp22.3 and Xpter, the same as STS
(300747) and Xg (314700). A surprising finding of their study was that
of a homologous locus on the Y chromosome in the euchromatin region
Ypter-q11.1. This was the first instance of a clear Y-linked structural
gene. Dracopoli et al. (1985) described a monoclonal antibody, O13, that
appeared to recognize the same antigen determined by the X and Y genes.
Darling et al. (1986) cloned the MIC2X and MIC2Y genes and concluded
that their sequences are closely related or identical.
By in situ hybridization, Buckle et al. (1985) showed that MIC2Y is
located on the distal part of Yp, namely, Ypter-p11.2.
On the basis of an X/Y translocation in which STS activity was retained
with the X chromosome (selected by fusion with an HPRT-deficient mouse
cell line) but MIC2X was lost, Geller et al. (1986) concluded that MIC2X
is distal to STS. The order of Y-specific sequences located centromeric
to the sex-determining gene(s), and therefore not pseudoautosomal, was
determined on the basis of their presence or absence in DNA from XX
males, and the order of pseudoautosomal loci situated distal to TDF was
established on the basis of family studies such as those presented by
Goodfellow et al. (1986).
*FIELD* RF
1. Bernard, A.; Aubrit, A.; Raynal, B.; Phan, D.; Boumsell, L.: A
T cell surface molecule different from CD2 is involved in spontaneous
rosette formation with erythrocytes. J. Immun. 140: 1802-1807, 1988.
2. Buckle, V.; Mondello, C.; Darling, S.; Craig, I. W.; Goodfellow,
P. N.: Homologous expressed genes in the human sex chromosome pairing
region. Nature 317: 739-741, 1985.
3. Darling, S. M.; Banting, G. S.; Pym, B.; Wolfe, J.; Goodfellow,
P. N.: Cloning an expressed gene shared by the human sex chromosomes. Proc.
Nat. Acad. Sci. 83: 135-139, 1986.
4. Dracopoli, N. C.; Rettig, W. J.; Albino, A. P.; Esposito, D.; Archidiacono,
N.; Rocchi, M.; Siniscalco, M.; Old, L. J.: Genes controlling gp25/30
cell-surface molecules map to chromosomes X and Y and escape X-inactivation. Am.
J. Hum. Genet. 37: 199-207, 1985.
5. Geller, R. L.; Shapiro, L. J.; Mohandas, T. K.: Fine mapping of
the distal short arm of the human X chromosome using X/Y translocations. Am.
J. Hum. Genet. 38: 884-890, 1986.
6. Goodfellow, P.; Banting, G.; Sheer, D.; Ropers, H. H.; Caine, A.;
Ferguson-Smith, M. A.; Povey, S.; Voss, R.: Genetic evidence that
a Y-linked gene in man is homologous to a gene on the X chromosome. Nature 302:
346-349, 1983.
7. Goodfellow, P. J.; Darling, S. M.; Thomas, N. S.; Goodfellow, P.
N.: A pseudoautosomal gene in man. Science 234: 740-743, 1986.
*FIELD* CD
Victor A. McKusick: 9/14/1992
*FIELD* ED
carol: 08/31/2009
joanna: 8/26/2009
carol: 10/31/2008
joanna: 7/8/1996
mimadm: 3/11/1994
carol: 9/22/1992
carol: 9/14/1992