RBCC Red Blood Cell Collection

ERMAP (RD, SC) [Confidence: high (a blood group or CD marker)]
Erythroid membrane-associated protein; hERMAP (Radin blood group antigen; Scianna blood group antigen; Flags: Precursor)

hRBCD IPI00044556
IPI00044556 Erythroid membrane-associated protein Erythroid membrane-associated protein membrane n/a 1 8 5 7 n/a 9 3 7 n/a 6 4 3 3 4 3 4 2 3 2 membrane bound n/a found at its expected molecular weight found at molecular weight

BGMUT scianna
806 scianna ERMAP ERMAP 54T, 76T, 103A Sc -7 (SCAN 54T,76T,103A) 54C>T; 76C>T; 103G>A L18L; H26Y; G35S 11 exons + flanking regions Sc: 1,-2,3 rare 16371048 Flegel et al. Transfusion 2005 45 1940-1944 Blumenfeld OO, curator 2008-09-30 19:41:45.510 NA

UniProt Q96PL5
ID ERMAP_HUMAN Reviewed; 475 AA.
AC Q96PL5; D3DPW8; Q5VV53; Q6DUE0; Q7Z3X0; Q8NCV8; Q8NCW2; Q8NCW3;
read moreAC Q96PL6;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 22-JAN-2014, entry version 109.
DE RecName: Full=Erythroid membrane-associated protein;
DE Short=hERMAP;
DE AltName: Full=Radin blood group antigen;
DE AltName: Full=Scianna blood group antigen;
DE Flags: Precursor;
GN Name=ERMAP; Synonyms=RD, SC;
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], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP AND SUBCELLULAR LOCATION.
RC TISSUE=Fetal liver;
RX PubMed=11783959; DOI=10.1006/bcmd.2001.0465;
RA Su Y.-Y., Gordon C.T., Ye T.-Z., Perkins A.C., Chui D.H.K.;
RT "Human ERMAP: an erythroid adhesion/receptor transmembrane protein.";
RL Blood Cells Mol. Dis. 27:938-949(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP AND SUBCELLULAR LOCATION.
RC TISSUE=Fetal liver;
RX PubMed=11549310; DOI=10.1006/geno.2001.6600;
RA Xu H., Foltz L., Sha Y., Madlansacay M.R., Cain C., Lindemann G.,
RA Vargas J., Nagy D., Harriman B., Mahoney W., Schueler P.A.;
RT "Cloning and characterization of human erythroid membrane-associated
RT protein, human ERMAP.";
RL Genomics 76:2-4(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE SC-3), VARIANTS BLOOD GROUP
RP SC2 ARG-57 AND SC4 ALA-60, AND VARIANT TYR-26.
RX PubMed=12393480; DOI=10.1182/blood-2002-07-2064;
RA Wagner F.F., Poole J., Flegel W.A.;
RT "Scianna antigens including Rd are expressed by ERMAP.";
RL Blood 101:752-757(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-4; TYR-26; ARG-259
RP AND GLU-263.
RG SeattleSNPs variation discovery resource;
RL Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [7]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [9]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-144, AND VARIANT BLOOD GROUP
RP SC5 LYS-47.
RX PubMed=15660834; DOI=10.1111/j.1537-2995.2004.04226.x;
RA Hue-Roye K., Chaudhuri A., Velliquette R.W., Fetics S., Thomas R.,
RA Balk M., Wagner F.F., Flegel W.A., Reid M.E.;
RT "STAR: a novel high-prevalence antigen in the Scianna blood group
RT system.";
RL Transfusion 45:245-247(2005).
RN [10]
RP VARIANTS BLOOD GROUP SC7 SER-35 AND SC6 GLN-81.
RX PubMed=16371048; DOI=10.1111/j.1537-2995.2005.00646.x;
RA Flegel W.A., Chen Q., Reid M.E., Martin J., Orsini L.A., Poole J.,
RA Moulds M.K., Wagner F.F.;
RT "SCER and SCAN: two novel high-prevalence antigens in the Scianna
RT blood group system.";
RL Transfusion 45:1940-1944(2005).
CC -!- FUNCTION: Possible role as a cell-adhesion or receptor molecule of
CC erythroid cells.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
CC protein. Cytoplasm.
CC -!- TISSUE SPECIFICITY: Expressed in erythroid-enriched bone marrow
CC (at protein level). Highly expressed in bone marrow and to a lower
CC extent in leukocytes, thymus, lymph node and spleen.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal liver blood cells (at
CC protein level). Highly expressed in fetal liver.
CC -!- PTM: Glycosylated.
CC -!- POLYMORPHISM: ERMAP is responsible for the Scianna/Radin blood
CC group system which comprises seven different antigens. The Sc1 and
CC Sc2 antigens are resulting from a single variation in position 57;
CC Arg-57 corresponds to the Sc2 antigen and Gly-57 to the Sc1
CC antigen. The Sc2 antigen is rare with an occurrence of less than
CC 1% in the population while Sc1 is more frequent. Sc3 is not
CC expressed by individuals homozygous for a null allele encoding a
CC truncated protein lacking its extracellular part (Sc-3). The Sc4
CC antigen corresponding to the previously defined Radin blood group
CC antigen (Rd) is due to a single variation in position 60; Ala-60
CC corresponds to Sc4/Rd(+), the antigenic form of the protein. Sc4
CC is found in less than 1% of the population. Sc5/STAR, Sc6/SCER and
CC Sc7/SCAN antigens are due to single variations in positions 47, 81
CC and 35 respectively. Alloantibodies to the low frequency Sc2 and
CC Sc4 antigens are the cause of hemolytic disease in the newborn.
CC -!- SIMILARITY: Belongs to the immunoglobulin superfamily. BTN/MOG
CC family.
CC -!- SIMILARITY: Contains 1 B30.2/SPRY domain.
CC -!- SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like)
CC domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAH72716.1; Type=Erroneous gene model prediction;
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene
CC mutation database;
CC URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system;=scianna";
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/ermap/";
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DR EMBL; AY049028; AAL11456.1; -; mRNA.
DR EMBL; AF311284; AAL08411.1; -; mRNA.
DR EMBL; AF311285; AAL08412.1; -; mRNA.
DR EMBL; AJ505028; CAD43739.1; -; Genomic_DNA.
DR EMBL; AJ505036; CAD43740.1; -; Genomic_DNA.
DR EMBL; AJ505037; CAD43740.1; JOINED; Genomic_DNA.
DR EMBL; AJ505038; CAD43740.1; JOINED; Genomic_DNA.
DR EMBL; AJ505039; CAD43740.1; JOINED; Genomic_DNA.
DR EMBL; AJ505040; CAD43740.1; JOINED; Genomic_DNA.
DR EMBL; AJ505041; CAD43740.1; JOINED; Genomic_DNA.
DR EMBL; AJ505042; CAD43740.1; JOINED; Genomic_DNA.
DR EMBL; AJ505044; CAD43741.1; -; Genomic_DNA.
DR EMBL; AJ505045; CAD43741.1; JOINED; Genomic_DNA.
DR EMBL; AJ505046; CAD43741.1; JOINED; Genomic_DNA.
DR EMBL; AJ505047; CAD43741.1; JOINED; Genomic_DNA.
DR EMBL; AJ505048; CAD43741.1; JOINED; Genomic_DNA.
DR EMBL; AJ505049; CAD43741.1; JOINED; Genomic_DNA.
DR EMBL; AJ505050; CAD43741.1; JOINED; Genomic_DNA.
DR EMBL; BX537371; CAD97613.2; -; mRNA.
DR EMBL; DQ090843; AAY88736.1; -; Genomic_DNA.
DR EMBL; AL512353; CAH72715.1; -; Genomic_DNA.
DR EMBL; AL512353; CAH72716.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471059; EAX07130.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07133.1; -; Genomic_DNA.
DR EMBL; BC099703; AAH99703.1; -; mRNA.
DR EMBL; BC099707; AAH99707.1; -; mRNA.
DR EMBL; BC099712; AAH99712.1; -; mRNA.
DR EMBL; BC099713; AAH99713.1; -; mRNA.
DR EMBL; AY644424; AAT66409.1; -; Genomic_DNA.
DR RefSeq; NP_001017922.1; NM_001017922.1.
DR RefSeq; NP_061008.2; NM_018538.3.
DR RefSeq; XP_005270473.1; XM_005270416.1.
DR UniGene; Hs.439437; -.
DR ProteinModelPortal; Q96PL5; -.
DR SMR; Q96PL5; 40-146, 233-412.
DR STRING; 9606.ENSP00000361592; -.
DR PhosphoSite; Q96PL5; -.
DR DMDM; 74761033; -.
DR PaxDb; Q96PL5; -.
DR PRIDE; Q96PL5; -.
DR Ensembl; ENST00000372514; ENSP00000361592; ENSG00000164010.
DR Ensembl; ENST00000372517; ENSP00000361595; ENSG00000164010.
DR GeneID; 114625; -.
DR KEGG; hsa:114625; -.
DR UCSC; uc001cic.1; human.
DR CTD; 114625; -.
DR GeneCards; GC01P043256; -.
DR HGNC; HGNC:15743; ERMAP.
DR HPA; HPA042573; -.
DR MIM; 111620; phenotype.
DR MIM; 111750; phenotype.
DR MIM; 609017; gene.
DR neXtProt; NX_Q96PL5; -.
DR PharmGKB; PA27860; -.
DR eggNOG; NOG320971; -.
DR HOVERGEN; HBG050747; -.
DR InParanoid; Q96PL5; -.
DR KO; K06712; -.
DR OMA; CLIWKQR; -.
DR OrthoDB; EOG7PCJGJ; -.
DR PhylomeDB; Q96PL5; -.
DR GeneWiki; ERMAP; -.
DR GenomeRNAi; 114625; -.
DR NextBio; 79109; -.
DR PRO; PR:Q96PL5; -.
DR ArrayExpress; Q96PL5; -.
DR Bgee; Q96PL5; -.
DR CleanEx; HS_ERMAP; -.
DR Genevestigator; Q96PL5; -.
DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:Ensembl.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:MGI.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR001870; B30.2/SPRY.
DR InterPro; IPR003879; Butyrophylin.
DR InterPro; IPR008985; ConA-like_lec_gl_sf.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR013106; Ig_V-set.
DR InterPro; IPR006574; PRY.
DR InterPro; IPR018355; SPla/RYanodine_receptor_subgr.
DR InterPro; IPR003877; SPRY_rcpt.
DR Pfam; PF13765; PRY; 1.
DR Pfam; PF00622; SPRY; 1.
DR Pfam; PF07686; V-set; 1.
DR PRINTS; PR01407; BUTYPHLNCDUF.
DR SMART; SM00409; IG; 1.
DR SMART; SM00589; PRY; 1.
DR SMART; SM00449; SPRY; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR PROSITE; PS50188; B302_SPRY; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Blood group antigen; Cell membrane; Complete proteome; Cytoplasm;
KW Disulfide bond; Glycoprotein; Immunoglobulin domain; Membrane;
KW Polymorphism; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1 29 Potential.
FT CHAIN 30 475 Erythroid membrane-associated protein.
FT /FTId=PRO_0000226088.
FT TOPO_DOM 30 155 Extracellular (Potential).
FT TRANSMEM 156 176 Helical; (Potential).
FT TOPO_DOM 177 475 Cytoplasmic (Potential).
FT DOMAIN 30 140 Ig-like V-type.
FT DOMAIN 220 418 B30.2/SPRY.
FT CARBOHYD 132 132 N-linked (GlcNAc...) (Potential).
FT DISULFID 50 126 By similarity.
FT VARIANT 4 4 A -> V (in dbSNP:rs35757049).
FT /FTId=VAR_025478.
FT VARIANT 26 26 H -> Y (in dbSNP:rs33953680).
FT /FTId=VAR_025479.
FT VARIANT 35 35 G -> S (in Sc7 antigen;
FT dbSNP:rs146429994).
FT /FTId=VAR_025480.
FT VARIANT 47 47 E -> K (in Sc5 antigen;
FT dbSNP:rs56047316).
FT /FTId=VAR_025481.
FT VARIANT 57 57 G -> R (in Sc2 antigen;
FT dbSNP:rs56025238).
FT /FTId=VAR_025482.
FT VARIANT 60 60 P -> A (in Sc4 antigen;
FT dbSNP:rs56136737).
FT /FTId=VAR_025483.
FT VARIANT 81 81 R -> Q (in Sc6 antigen).
FT /FTId=VAR_025484.
FT VARIANT 103 113 DAQEGSVTLQI -> CPRGKCHSADP (in Sc-3
FT allele).
FT /FTId=VAR_025485.
FT VARIANT 114 475 Missing (in Sc-3 allele).
FT /FTId=VAR_025486.
FT VARIANT 259 259 C -> R (in dbSNP:rs35147822).
FT /FTId=VAR_025487.
FT VARIANT 263 263 G -> E (in dbSNP:rs34441268).
FT /FTId=VAR_025488.
FT CONFLICT 452 452 L -> P (in Ref. 4; CAD97613).
SQ SEQUENCE 475 AA; 52605 MW; D796B0951EA02E0F CRC64;
MEMASSAGSW LSGCLIPLVF LRLSVHVSGH AGDAGKFHVA LLGGTAELLC PLSLWPGTVP
KEVRWLRSPF PQRSQAVHIF RDGKDQDEDL MPEYKGRTVL VRDAQEGSVT LQILDVRLED
QGSYRCLIQV GNLSKEDTVI LQVAAPSVGS LSPSAVALAV ILPVLVLLIM VCLCLIWKQR
RAKEKLLYEH VTEVDNLLSD HAKEKGKLHK AVKKLRSELK LKRAAANSGW RRARLHFVAV
TLDPDTAHPK LILSEDQRCV RLGDRRQPVP DNPQRFDFVV SILGSEYFTT GCHYWEVYVG
DKTKWILGVC SESVSRKGKV TASPANGHWL LRQSRGNEYE ALTSPQTSFR LKEPPRCVGI
FLDYEAGVIS FYNVTNKSHI FTFTHNFSGP LRPFFEPCLH DGGKNTAPLV ICSELHKSEE
SIVPRPEGKG HANGDVSLKV NSSLLPPKAP ELKDIILSLP PDLGPALQEL KAPSF
//

MIM 111620
*RECORD*
*FIELD* NO
111620
*FIELD* TI
#111620 RADIN BLOOD GROUP ANTIGEN; RD
;;BLOOD GROUP--RADIN ANTIGEN
*FIELD* TX
A number sign (#) is used with this entry because of evidence that the
read moreRadin antigen (Rd) belongs to the Scianna blood group system (111750)
and is determined by a specific change in the gene encoding erythroblast
membrane-associated protein (ERMAP; 609017).

DESCRIPTION

Radin is a rare red cell antigen discovered by Rausen et al. (1967) in 5
families with varying ethnic backgrounds. It has been shown to cause
mild to moderate hemolytic disease of the newborn in some cases. The
Radin antigen is determined by a polymorphism in the ERMAP gene
(609017.0003) and thus is a member of the blood group Scianna (Wagner et
al., 2003). Radin has alternatively been labeled Sc4 to reflect this
relationship.

Harvey et al. (1983) estimated the frequency of the Radin antigen among
Europeans to be 0.04% to 0.66% with the highest frequencies occurring
among Swedes and Danes.

MAPPING

Lewis and Kaita (1979) found linkage of Rd with Rh (lod score of 3.89 at
a recombination fraction of 0.10). This suggested that Radin might be
part of the Scianna system, since the latter locus is on 1p in the
region of Rh. Lewis et al. (1980) presented evidence that the Radin
blood group antigen is governed by a locus called Rd, which is located
between PGM1 (171900) and alpha-fucosidase--Rh, and is either very
closely linked to or identical with Sc. Hilden et al. (1985) found
linkage of Rd to chromosome 1 in 9 of 11 families studied.

MOLECULAR GENETICS

Wagner et al. (2003) demonstrated heterozygosity for a pro60-to-ala
allele in the ERMAP gene (609017.0003) in an Rd+ proband.

*FIELD* RF
1. Harvey, R. G.; Tills, D.; Warlow, A.; Kopec, A. C.; Domaniewska-Sobezak,
K.; Suter, D.; Lord, J. M.: Genetic affinities of the Balts: a study
of blood groups, serum proteins and enzymes of Lithuanians in the
United Kingdom. Man (NS) 18: 535-552, 1983.

2. Hilden, J.-O.; Shaw, M.-A.; Whitehouse, D. B.; Monteiro, M.; Tippett,
P.: Linkage information from nine more Radin families. (Abstract) Cytogenet.
Cell Genet. 40: 650-651, 1985.

3. Lewis, M.; Kaita, H.: Genetic linkage between the Radin and Rh
blood group loci. Vox Sang. 37: 286-289, 1979.

4. Lewis, M.; Kaita, H.; Philipps, S.; Giblett, E. R.; Anderson, J.
E.; McAlpine, P. J.; Nickel, B.: The position of the Radin blood
group locus in relation to other chromosome 1 loci. Ann. Hum. Genet. 44:
179-184, 1980.

5. Rausen, A. R.; Rosenfield, R. E.; Alter, A. A.; Hakim, S.; Graven,
S. N.; Apollon, C. J.; Dallman, P. R.; Dalziel, J. C.; Konugres, A.
A.; Francis, B.; Gavin, J.; Cleghorn, T. E.: A 'new' infrequent red
cell antigen, Rd (Radin). Transfusion 7: 336-342, 1967.

6. Wagner, F. F.; Poole, J.; Flegel, W. A.: Scianna antigens including
Rd are expressed by ERMAP. Blood 101: 752-757, 2003.

*FIELD* CN
Joanna S. Amberger - updated: 11/12/2009
Victor A. McKusick - updated: 12/22/2005

*FIELD* CD
Victor A. McKusick: 6/4/1986

*FIELD* ED
carol: 02/06/2013
joanna: 2/7/2011
carol: 11/12/2009
joanna: 11/12/2009
carol: 12/23/2005
terry: 12/22/2005
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/26/1989
marie: 3/25/1988
reenie: 6/4/1986

MIM 111750
*RECORD*
*FIELD* NO
111750
*FIELD* TI
#111750 BLOOD GROUP--SCIANNA SYSTEM; SC
;;SCIANNA BLOOD GROUP
*FIELD* TX
A number sign (#) is used with this entry because of evidence that the
read moreScianna blood group system, including the Radin antigen (Rd; 111620), is
based on changes in the gene encoding erythroblast membrane-associated
protein (ERMAP; 609017).

DESCRIPTION

The Scianna blood group system was originally represented by 2 blood
group antigens: the high-frequency Sc1 antigen (formerly Sm) and the
low-frequency Sc2 antigen (formerly Bu-a) (Lewis et al., 1974). Other
members of the Scianna blood group system include Sc3 (Nason et al.,
1980), Sc4 (Rd), and Sc5 (Star). Wagner et al. (2003) determined that Rd
was part of the Scianna system, and the Star antigen was discovered by
Hue-Roye et al. (2005).

MAPPING

The Rh laboratory at Winnipeg had lod scores greater than 3.0 for
Scianna on human chromosome 1 (Cote, 1976). Concerning the Rh:Sc
linkage, Lewis et al. (1976) found that at a recombination fraction of
0.10, the lod score was 5.34 for sibships with the father as the double
heterozygote and -5.955 for those with the mother as the double
heterozygote. Using data on 13 loci, Rao et al. (1979) derived a maximum
likelihood map of chromosome 1. Confirmation of the assignment of
Scianna to chromosome 1 was achieved thereby. Noades et al. (1979) found
recombination between UMPK (191710) and Sc, suggesting that UMPK lies
between Sc and PGM1 (171900).

MOLECULAR GENETICS

Wagner et al. (2003) studied samples of rare Scianna blood groups and
identified changes in the erythrocyte membrane-associated protein (see
609017.0001-609017.0002).

Velliquette (2005) reviewed the Scianna blood group system and provided
the nucleotide substitutions in the ERMAP gene underlying the Scianna
polymorphisms and SC(null) phenotype.

DeMarco et al. (1995) described experiments indicating that anti-Sc2 can
cause clinically significant hemolytic disease of the newborn. Although
the antibody is uncommon, its frequency and hemolytic potential may be
underappreciated, in part because investigations often are not carried
out in the infant whose red cells are ABO-incompatible with maternal
blood.

*FIELD* RF
1. Cote, G. B.: Personal Communication. Athens, Greece 5/10/1976.

2. DeMarco, M.; Uhl, L.; Fields, L.; Pacini, D.; Gorlin, J. B.; Kruskall,
M. S.: Hemolytic disease of the newborn due to the Scianna antibody,
anti-Sc2. Transfusion 35: 58-60, 1995.

3. Hue-Roye, K.; Chaudhuri, A.; Velliquette, R. W.; Fetics, S.; Thomas,
R.; Balk, M.; Wagner, F. F.; Flegel, W. A.; Reid, M. E.: STAR: a
novel high-prevalence antigen in the Scianna blood group system. Transfusion 45:
245-247, 2005.

4. Lewis, M.; Kaita, H.; Chown, B.: Scianna blood group system. Vox
Sang. 27: 261-264, 1974.

5. Lewis, M.; Kaita, H.; Chown, B.: Genetic linkage between the human
blood group loci Rh and Sc (Scianna). (Letter) Am. J. Hum. Genet. 28:
619-620, 1976.

6. Nason, S. G.; Vengelen-Tyler, V.; Cohen, N.; et al.: A high
incidence antibody (anti-Sc3) in the serum of a Sc:-1,-2 patient. Transfusion 20:
531-535, 1980.

7. Noades, J. E.; Corney, G.; Cook, P. J. L.; Putt, W.; King, J.;
Fisher, R. A.; Spowart, G.; Lee, M.; Bowell, P. J.: The Scianna blood
group lies distal to uridine monophosphate kinase on chromosome 1p. Ann.
Hum. Genet. 43: 121-132, 1979.

8. Rao, D. C.; Keats, B. J.; Lalouel, J. M.; Morton, N. E.; Yee, S.
: A maximum likelihood map of chromosome 1. Am. J. Hum. Genet. 31:
680-696, 1979.

9. Velliquette, R. W.: Review: the Scianna blood group system. Immunohematology 21:
70-76, 2005.

10. Wagner, F. F.; Poole, J.; Flegel, W. A.: Scianna antigens including
Rd are expressed by ERMAP. Blood 101: 752-757, 2003.

*FIELD* CN
Victor A. McKusick - updated: 2/3/2006
Victor A. McKusick - updated: 1/4/2006
Victor A. McKusick - updated: 12/22/2005

*FIELD* CD
Victor A. McKusick: 6/4/1986

*FIELD* ED
carol: 02/20/2006
terry: 2/3/2006
carol: 1/4/2006
terry: 12/22/2005
alopez: 3/18/2004
alopez: 10/7/2003
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/26/1989
marie: 3/25/1988
reenie: 2/9/1987
marie: 12/15/1986

MIM 609017
*RECORD*
*FIELD* NO
609017
*FIELD* TI
*609017 ERYTHROBLAST MEMBRANE-ASSOCIATED PROTEIN; ERMAP
;;ERYTHROID MEMBRANE-ASSOCIATED PROTEIN;;
read moreERYTHROCYTE MEMBRANE-ASSOCIATED PROTEIN
*FIELD* TX

CLONING

By subtractive hybridization of early and late gestation fetal liver,
followed by 5-prime RACE, Xu et al. (2001) cloned ERMAP. The deduced
475-amino acid protein contains an N-terminal extracellular IgV domain,
a transmembrane domain, and a C-terminal cytoplasmic B30.2 domain. The
cytoplasmic region also has multiple putative phosphorylation sites and
a number of post-Golgi sorting signals. ERMAP does not contain the IgC
domain found in mouse Ermap. Northern blot analysis detected a 3.5-kb
transcript expressed in fetal liver, cord blood, and adult bone marrow,
but not in erythroid-depleted bone marrow or peripheral blood cells.
FISH detected ERMAP in fetal and adult erythroblasts and reticulocytes.
Immunofluorescent localization with antibody directed to the IgV domain
detected ERMAP on the cell surface.

By screening a fetal liver cDNA library, followed by 5-prime RACE of an
erythroleukemia cell line, fetal liver, and bone marrow, Su et al.
(2001) cloned ERMAP. Northern blot analysis detected strong expression
in fetal liver and adult bone marrow. Weak expression was detected in
other hemopoietic tissues and cells, but not in other tissues.
Expression was also detected in a colorectal adenocarcinoma cell line
and in a lung carcinoma cell line, but not in other tumor cell lines.
Fluorescence-tagged ERMAP was expressed at the plasma membrane and in
discrete cytoplasmic bodies of transfected embryonic kidney cells.

GENE STRUCTURE

Su et al. (2001) determined that the ERMAP gene contains 11 exons and
spans about 19 kb.

MAPPING

By genomic sequence analysis, Su et al. (2001) mapped the ERMAP gene to
chromosome 1p34. They mapped the mouse Ermap gene to a region of
chromosome 4 that shows homology of synteny to human chromosome
1p36-p32. Velliquette (2005) placed the ERMAP gene at 1p34.2.

MOLECULAR GENETICS

The Scianna blood group system (111750) was originally represented by 2
antithetical antigens, the high-frequency antigen Sc1 and the
low-frequency antigen Sc2. The antigen Sc3 is expressed on all red blood
cells except those of the very rare Sc:-1,-2 phenotype, 3 clusters of
which were observed in circumscribed populations (Issitt and Anstee,
1998). Spring et al. (1990) showed that the Sc antigens reside on the
Scianna glycoprotein.

Scianna antigens were shown to be inherited linked to the Rh antigens,
which map to chromosome 1p36-p34, but were found to be distinct. Spring
(1993) demonstrated that a second low-frequency antigen, Radin (RD;
111620), mapped to the same position on chromosome 1 and resided on a
protein of similar size. Both anti-Sc2 and anti-Rd are clinically
relevant, having caused hemolytic disease in the newborn. Because the
ERMAP gene shares the genomic location, protein product size, and
localization to the red blood cell membrane surface with Scianna, Wagner
et al. (2003) sequenced the ERMAP gene in probands with known Scianna
and Rd phenotypes. In an Sc:-1,-2 proband in a pedigree in Saudi Arabia,
Wagner et al. (2003) found only one ERMAP allele with a 2-bp deletion in
exon 3 causing a frameshift (609017.0001). A Sc:-1,2 proband was
homozygous for an ERMAP allele with a gly57-to-arg substitution
(609017.0002). An Rd+ proband was heterozygous for an ERMAP allele with
a pro60-to-ala substitution (609017.0003). Wagner et al. (2003)
developed a polymerase chain reaction with sequence-specific priming
(PCR-SSP) systems to detect the Sc2 and Rd alleles of the ERMAP gene.
The 2 alleles occurred with about 1% or less than 1% frequency in the
population, which was compatible with the frequency of the Sc2 and Rd
antigens known in whites.

Velliquette (2005) provided a comprehensive review of the Scianna blood
group system and listed the various nucleotide substitutions in the
ERMAP gene underlying the Scianna polymorphisms and SC(null) phenotype.

*FIELD* AV
.0001
SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2
ERMAP, 2-BP DEL

In an SC:-1,-2 (111750) pedigree from Saudi Arabia, Wagner et al. (2003)
found that the proband had a 2-bp deletion in exon 3 of the ERMAP gene,
causing a frameshift. The deletion was presumably caused by a slippage
error of the DNA polymerase in the GAGAGA repetitive sequence. The
frameshift resulted in a truncated protein of 113 amino acids.

.0002
SCIANNA BLOOD GROUP SYSTEM, SC:-1,2
ERMAP, GLY57ARG

Wagner et al. (2003) sequenced the 11 exons of the ERMAP gene in an
Sc:-1,2 (111750) proband and demonstrated homozygosity for a 169G-A
transition (relative to the A of the start codon), resulting in a
gly57-to-arg (G57R) substitution. The homozygous presence of the G57R
allele was demonstrated by nucleotide sequencing of ERMAP exon 3 in 2
additional unrelated Sc:-1,2 probands. Two Sc:1,2 samples were
heterozygous for the G57R allele. Five of 305 samples from German blood
donors carried the G57R allele in heterozygous form. A haplotype
frequency of 0.008 was deduced for the ERMAP G57R allele.

.0003
RADIN BLOOD GROUP ANTIGEN
ERMAP, PRO60ALA

Wagner et al. (2003) sequenced the ERMAP gene in an Rd+ (111620) proband
and found heterozygosity for a 178C-G transversion resulting in a
pro60-to-ala (P60A) substitution. Among 305 German blood donors, none
was positive for the P60A allele. However, among a different set of
random donors, an ERMAP P60A-positive sample was found.

.0004
SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN
ERMAP, GLU47LYS

Hue-Roye et al. (2005) demonstrated that the high-prevalence Star
antigen in the Scianna blood group system (111750) is caused by a 139G-A
substitution in exon 3 of the ERMAP gene, resulting in a glu47-to-lys
substitution.

*FIELD* SA
Daniels et al. (2001)
*FIELD* RF
1. Daniels, G. L.; Anstee, D. J.; Cartron, J. P.; et al.: International
Society of Blood Transfusion Working Party on Terminology for Red
Cell Surface Antigens. Vox Sang. 80: 193-197, 2001.

2. Hue-Roye, K.; Chaudhuri, A.; Velliquette, R. W.; Fetics, S.; Thomas,
R.; Balk, M.; Wagner, F. F.; Flegel, W. A.; Reid, M. E.: Star: a
novel high-prevalence antigen in the Scianna blood group system. Transfusion 45:
245-247, 2005.

3. Issitt, P. D.; Anstee, D. J.: Applied Blood Group Serology. Miami,
Fla.: Montgomery Sci. Publ. , 1998.

4. Spring, F. A.: Characterization of blood-group-active erythrocyte
membrane glycoproteins with human antisera. Transfus. Med. 3: 167-178,
1993.

5. Spring, F. A.; Herron, R.; Rowe, G.: An erythrocyte glycoprotein
of apparent Mr 60,000 expresses the Sc1 and Sc2 antigens. Vox Sang. 58:
122-125, 1990.

6. Su, Y.-Y.; Gordon, C. T.; Ye, T.-Z.; Perkins, A. C.; Chui, D. H.
K.: Human ERMAP: an erythroid adhesion/receptor transmembrane protein. Blood
Cells Molec. Dis. 27: 938-949, 2001.

7. Velliquette, R. W.: Review: the Scianna blood group system. Immunohematology 21:
70-76, 2005.

8. Wagner, F. F.; Poole, J.; Flegel, W. A.: Scianna antigens including
Rd are expressed by ERMAP. Blood 101: 752-757, 2003.

9. Xu, H.; Foltz, L.; Sha, Y.; Madlansacay, M. R.; Cain, C.; Lindemann,
G.; Vargas, J.; Nagy, D.; Harriman, B.; Mahoney, W.; Schueler, P.
A.: Cloning and characterization of human erythroid membrane-associated
protein, human ERMAP. Genomics 76: 2-4, 2001.

*FIELD* CN
Victor A. McKusick - updated: 2/3/2006
Victor A. McKusick - updated: 12/22/2005

*FIELD* CD
Patricia A. Hartz: 11/8/2004

*FIELD* ED
carol: 02/20/2006
carol: 2/20/2006
terry: 2/3/2006
terry: 1/5/2006
carol: 12/23/2005
terry: 12/22/2005
mgross: 11/8/2004