RBCC

Full text data of IL9R

IL9R [Confidence: high (a blood group or CD marker)]
Interleukin-9 receptor; IL-9 receptor; IL-9R (CD129; Flags: Precursor)

UniProt Q01113
ID IL9R_HUMAN Reviewed; 521 AA.
AC Q01113; B9ZVT0; Q14634; Q8WWU1; Q96TF0;
DT 01-APR-1993, integrated into UniProtKB/Swiss-Prot.
read moreDT 17-OCT-2006, sequence version 3.
DT 22-JAN-2014, entry version 137.
DE RecName: Full=Interleukin-9 receptor;
DE Short=IL-9 receptor;
DE Short=IL-9R;
DE AltName: CD_antigen=CD129;
DE Flags: Precursor;
GN Name=IL9R;
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 1), AND VARIANT ARG-331.
RX PubMed=1376929; DOI=10.1073/pnas.89.12.5690;
RA Renauld J.-C., Druez C., Kermouni A., Houssiau F., Uyttenhove C.,
RA van Roost E., van Snick J.;
RT "Expression cloning of the murine and human interleukin 9 receptor
RT cDNAs.";
RL Proc. Natl. Acad. Sci. U.S.A. 89:5690-5694(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Melanoma;
RX PubMed=8666384; DOI=10.1006/geno.1995.9992;
RA Kermouni A., van Roost E., Arden K.C., Vermeesch J.R., Weiss S.,
RA Godelaine D., Flint J., Lurquin C., Szikora J.-P., Higgs D.R.,
RA Marynen P., Renauld J.-C.;
RT "The IL-9 receptor gene (IL9R): genomic structure, chromosomal
RT localization in the pseudoautosomal region of the long arm of the sex
RT chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter,
RT 16pter, and 18pter.";
RL Genomics 29:371-382(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10655549; DOI=10.1093/hmg/9.3.395;
RA Ciccodicola A., D'Esposito M., Esposito T., Gianfrancesco F.,
RA Migliaccio C., Miano M.G., Matarazzo M.R., Vacca M., Franze A.,
RA Cuccurese M., Cocchia M., Curci A., Terracciano A., Torino A.,
RA Cocchia S., Mercadante G., Pannone E., Archidiacono N., Rocchi M.,
RA Schlessinger D., D'Urso M.;
RT "Differentially regulated and evolved genes in the fully sequenced
RT Xq/Yq pseudoautosomal region.";
RL Hum. Mol. Genet. 9:395-401(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS LYS-63; GLN-239 AND
RP CYS-288.
RG SeattleSNPs variation discovery resource;
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 22-33, PARTIAL NUCLEOTIDE
RP SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT ARG-331.
RX PubMed=8193355;
RA Chang M.S., Engel G., Benedict C., Basu R., McNinch J.;
RT "Isolation and characterization of the human interleukin-9 receptor
RT gene.";
RL Blood 83:3199-3205(1994).
CC -!- FUNCTION: This is a receptor for interleukin-9.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane
CC protein. Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q01113-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q01113-2; Sequence=VSP_039025;
CC Name=3;
CC IsoId=Q01113-3; Sequence=VSP_046207, VSP_046208, VSP_046209,
CC VSP_046210;
CC -!- DOMAIN: The WSXWS motif appears to be necessary for proper protein
CC folding and thereby efficient intracellular transport and cell-
CC surface receptor binding.
CC -!- DOMAIN: The box 1 motif is required for JAK interaction and/or
CC activation.
CC -!- MISCELLANEOUS: The gene coding for this protein is located in the
CC pseudoautosomal region 2 (PAR2) of X and Y chromosomes.
CC -!- SIMILARITY: Belongs to the type I cytokine receptor family. Type 4
CC subfamily.
CC -!- SIMILARITY: Contains 1 fibronectin type-III domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB30844.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/il9r/";
CC -----------------------------------------------------------------------
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DR EMBL; M84747; AAA58679.1; -; mRNA.
DR EMBL; L39064; AAC29513.1; -; Genomic_DNA.
DR EMBL; AJ271736; CAB96817.1; -; Genomic_DNA.
DR EMBL; AY071830; AAL55435.1; -; Genomic_DNA.
DR EMBL; CH471247; EAW55884.1; -; Genomic_DNA.
DR EMBL; S71404; AAB30844.2; ALT_INIT; mRNA.
DR EMBL; S71420; AAD14081.1; -; Genomic_DNA.
DR PIR; B45268; B45268.
DR RefSeq; NP_002177.2; NM_002186.2.
DR RefSeq; NP_789743.2; NM_176786.1.
DR UniGene; Hs.406228; -.
DR ProteinModelPortal; Q01113; -.
DR DIP; DIP-3156N; -.
DR IntAct; Q01113; 2.
DR MINT; MINT-120360; -.
DR STRING; 9606.ENSP00000244174; -.
DR PhosphoSite; Q01113; -.
DR DMDM; 116242526; -.
DR PaxDb; Q01113; -.
DR PRIDE; Q01113; -.
DR DNASU; 3581; -.
DR Ensembl; ENST00000244174; ENSP00000244174; ENSG00000124334.
DR Ensembl; ENST00000369423; ENSP00000358431; ENSG00000124334.
DR Ensembl; ENST00000424344; ENSP00000388918; ENSG00000124334.
DR GeneID; 3581; -.
DR KEGG; hsa:3581; -.
DR UCSC; uc004fnu.1; human.
DR CTD; 3581; -.
DR GeneCards; GC0XP155227; -.
DR H-InvDB; HIX0176548; -.
DR H-InvDB; HIX0177609; -.
DR HGNC; HGNC:6030; IL9R.
DR HPA; CAB010497; -.
DR MIM; 300007; gene.
DR neXtProt; NX_Q01113; -.
DR PharmGKB; PA29846; -.
DR eggNOG; NOG45141; -.
DR HOGENOM; HOG000232001; -.
DR HOVERGEN; HBG005032; -.
DR InParanoid; Q01113; -.
DR KO; K05073; -.
DR OMA; HEDLQGM; -.
DR OrthoDB; EOG7TQV0Z; -.
DR PhylomeDB; Q01113; -.
DR SignaLink; Q01113; -.
DR GeneWiki; Interleukin-9_receptor; -.
DR GenomeRNAi; 3581; -.
DR NextBio; 13997; -.
DR PRO; PR:Q01113; -.
DR ArrayExpress; Q01113; -.
DR Bgee; Q01113; -.
DR CleanEx; HS_IL9R; -.
DR Genevestigator; Q01113; -.
DR GO; GO:0005615; C:extracellular space; TAS:ProtInc.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0004919; F:interleukin-9 receptor activity; TAS:ProtInc.
DR GO; GO:0008283; P:cell proliferation; TAS:ProtInc.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR003961; Fibronectin_type3.
DR InterPro; IPR003531; Hempt_rcpt_S_F1_CS.
DR InterPro; IPR013783; Ig-like_fold.
DR SUPFAM; SSF49265; SSF49265; 1.
DR PROSITE; PS50853; FN3; 1.
DR PROSITE; PS01355; HEMATOPO_REC_S_F1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Complete proteome; Glycoprotein;
KW Membrane; Polymorphism; Receptor; Reference proteome; Secreted;
KW Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1 40 Potential.
FT CHAIN 41 521 Interleukin-9 receptor.
FT /FTId=PRO_0000010911.
FT TOPO_DOM 41 270 Extracellular (Potential).
FT TRANSMEM 271 291 Helical; (Potential).
FT TOPO_DOM 292 521 Cytoplasmic (Potential).
FT DOMAIN 149 259 Fibronectin type-III.
FT MOTIF 245 249 WSXWS motif.
FT MOTIF 301 309 Box 1 motif.
FT COMPBIAS 429 438 Poly-Ser.
FT COMPBIAS 439 442 Poly-Asn.
FT CARBOHYD 117 117 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 156 156 N-linked (GlcNAc...) (Potential).
FT VAR_SEQ 1 21 Missing (in isoform 2).
FT /FTId=VSP_039025.
FT VAR_SEQ 1 9 MGLGRCIWE -> MPQTCDGTGQMHLGSNCCKNGQTLLQRT
FT CHGVSCCGWWFQAARSILGKGPSAQSLA (in isoform
FT 3).
FT /FTId=VSP_046207.
FT VAR_SEQ 85 154 SNQAPGGTHKCILRGSECTVVLPPEAVLVPSDNFTITFHHC
FT MSGREQVSLVDPEYLPRRHVKLDPPSDLQ -> RLLAAHIS
FT ASCGAVSAPSCCHLRQCSCHLTISPSLSTTACLGGSRSAWW
FT TRSTCPGDT (in isoform 3).
FT /FTId=VSP_046208.
FT VAR_SEQ 297 307 VKRIFYQNVPS -> LGWGPTGPVCC (in isoform
FT 3).
FT /FTId=VSP_046209.
FT VAR_SEQ 308 521 Missing (in isoform 3).
FT /FTId=VSP_046210.
FT VARIANT 63 63 R -> K (in dbSNP:rs3093495).
FT /FTId=VAR_038784.
FT VARIANT 239 239 E -> Q (in dbSNP:rs6522).
FT /FTId=VAR_014804.
FT VARIANT 288 288 Y -> C (in dbSNP:rs3093514).
FT /FTId=VAR_033920.
FT VARIANT 331 331 G -> R (in dbSNP:rs2230001).
FT /FTId=VAR_055348.
FT VARIANT 365 365 R -> H (in dbSNP:rs2228650).
FT /FTId=VAR_055349.
FT CONFLICT 438 438 S -> SS (in Ref. 1; AAA58679 and 4;
FT AAL55435).
SQ SEQUENCE 521 AA; 57147 MW; 07C40436466173F3 CRC64;
MGLGRCIWEG WTLESEALRR DMGTWLLACI CICTCVCLGV SVTGEGQGPR SRTFTCLTNN
ILRIDCHWSA PELGQGSSPW LLFTSNQAPG GTHKCILRGS ECTVVLPPEA VLVPSDNFTI
TFHHCMSGRE QVSLVDPEYL PRRHVKLDPP SDLQSNISSG HCILTWSISP ALEPMTTLLS
YELAFKKQEE AWEQAQHRDH IVGVTWLILE AFELDPGFIH EARLRVQMAT LEDDVVEEER
YTGQWSEWSQ PVCFQAPQRQ GPLIPPWGWP GNTLVAVSIF LLLTGPTYLL FKLSPRVKRI
FYQNVPSPAM FFQPLYSVHN GNFQTWMGAH GAGVLLSQDC AGTPQGALEP CVQEATALLT
CGPARPWKSV ALEEEQEGPG TRLPGNLSSE DVLPAGCTEW RVQTLAYLPQ EDWAPTSLTR
PAPPDSEGSR SSSSSSSSNN NNYCALGCYG GWHLSALPGN TQSSGPIPAL ACGLSCDHQG
LETQQGVAWV LAGHCQRPGL HEDLQGMLLP SVLSKARSWT F
//

MIM 300007
*RECORD*
*FIELD* NO
300007
*FIELD* TI
*300007 INTERLEUKIN 9 RECEPTOR; IL9R
*FIELD* TX

CLONING

Interleukin-9 (IL9; 146931) was originally identified as a growth factor
read morefor murine T helper cell clones, murine mast cell lines, and a human
megakaryoblastic leukemia line. Subsequently, additional biologic
targets were discovered, including human T-cell lines and human
erythroid and myeloid precursors. Moreover, involvement of IL9 in
tumorigenesis was suggested by the observation that lymph nodes from
patients with Hodgkin disease or large-cell anaplastic lymphoma express
IL9 constitutively. Renauld et al. (1992) reported the expression
cloning and sequencing of a cDNA encoding the murine IL9 receptor. They
used this cDNA to identify a human homolog. Sequence analysis showed
that the IL9 receptor belongs to the hematopoietin receptor superfamily
and is expressed in membrane-bound and soluble forms.

Chang et al. (1994) determined that the IL9R gene encodes a 522-amino
acid type I transmembrane protein. They also found evidence for
alternatively spliced isoforms of the protein.

GENE FUNCTION

Russell et al. (1993) suggested that the interleukin receptor common
gamma chain, or gamma-c (IL2RG; 308380), may be shared with the IL9
receptor.

Demoulin et al. (1996) expressed mutated IL9R molecules and showed that
a single tyrosine at position 116 in the receptor's intracellular domain
is phosphorylated after IL9 binding and mediates the activation of
STAT1, STAT3 (102582), and STAT5 (601511). They also showed that JAK1 is
constitutively associated with IL9R and that activation of JAK1 depends
on a distinct intracellular domain of IL9R.

Ihle and Kerr (1995) reviewed the activation cascade involving
cytokines, cytokine receptors, the Janus kinases (see JAK1; 147795), and
the signal transducers and activators of transcription, or STATs (see
STAT1; 600555).

IL9R is expressed on many hemopoietic cells, including T cells, mast
cells, and macrophages. By RT-PCR analysis, Abdelilah et al. (2001)
detected expression of IL9R in polymorphonuclear neutrophils (PMNs) from
all asthmatic patients tested but in only some controls. Flow cytometric
analysis demonstrated surface expression of IL9R on PMNs of all
asthmatics tested, with less intense expression on neutrophils of some
controls. Immunohistochemical analysis revealed surface and
intracytoplasmic expression in all asthmatic PMNs and bronchoalveolar
lavage cells, but little or no expression in control PMNs. Functional
analysis showed that recombinant IL9 could induce PMNs from asthmatic
patients to produce IL8 (146930), a proinflammatory cytokine, at higher
levels than from control PMNs.

Using flow cytometry and RT-PCR analysis, Gounni et al. (2004) found
that human airway smooth muscle (ASM) cells expressed IL9R mRNA
constitutively and IL9R protein on their surface. Incubation of ASM
cells with IL9 induced dose-dependent, IL13 (147683)- and IL4
(147780)-independent secretion of CCL11 (601156), which in turn
recruited eosinophils. IL9 had no effect on the release of CCL17
(601520). Gounni et al. (2004) concluded that IL9-dependent activation
of ASM cells via IL9R contributes to eosinophilic inflammation observed
in asthma.

GENE STRUCTURE

Chang et al. (1994) isolated the genomic clone of the IL9R gene, based
on its sequence homology with a human IL9R cDNA isolated from a human
megakaryocyte cell line. It consists of 10 exons spread over
approximately 13.7 kb.

Kermouni et al. (1995) also characterized the genomic structure of IL9R
and noted an eleventh exon in a gene which spans about 17 kb of DNA.

MAPPING

Kermouni et al. (1995) used PCR analysis of somatic cell hybrid DNAs for
chromosome assignment and fluorescence in situ hybridization to map the
IL9R gene to the pseudoautosomal regions at Xq28 and Yq12. A CA repeat
in intron 8 was shown to be the same as a sequence identified by Kvaloy
et al. (1994) which was mapped about 20 kb from the Xq and Yq telomeres.
This entire region represents about 320 kb of DNA and has an L1 element
at its proximal border. IL9R was reportedly the first gene to be mapped
to the long-arm pseudoautosomal region; a considerable number of genes
had previously been mapped to the pseudoautosomal region of Xp and Yp.
Kermouni et al. (1995) speculated that some of the phenotypic features
associated with Yq deletions, such as short stature, azoospermia,
learning disabilities, and facial dysmorphism, may be the result of loss
of IL9R or other adjacent loci in the long-arm pseudoautosomal region.

Kermouni et al. (1995) found pseudogenes for IL9R at the subtelomeric
regions 9q34, 10p15, 16p13.3, and 18p11.3. They proposed that the
pseudogenes may have arisen from translocations at the end of the X or Y
chromosomes possibly involving an Alu repeat located in the second
intron.

Two genes located in the pseudoautosomal region on the short arm of the
X and Y chromosomes, CFS2RA (306250) and IL3RA, are autosomal in mice,
suggesting that this region is of autosomal origin. Vermeesch et al.
(1997) investigated the origin of the long arm pseudoautosomal region
(PAR). They showed that the IL9R gene, which is located within the human
Xq/Yq homology region, maps to murine chromosome 11. Thus, the Xq/Yq PAR
represents a second region on the human X chromosome that is not
X-linked in mice. Furthermore, they showed that IL9R is absent on the Y
of great apes. IL9R is thus exceptional among X/Y genes in that it is
X-linked in some mammals, but autosomal or pseudoautosomal in others.
Genes located on the X and the Y generally escape X-inactivation. An
exception to this rule is XYBL1 (300053), a gene located in the Xq PAR.
XYBL1 is X-inactivated and is inactive on the Y chromosome. In contrast,
Vermeesch et al. (1997) showed that IL9R expression does occur from the
Y, and from both the active and the inactive X chromosomes. This finding
raised the question of how transcriptional regulation of the genes
within Xq PAR occurs and how the X-inactivation status of IL9R has
evolved the autosome-to-X and the X-to-X/Y translocation.

MOLECULAR GENETICS

Kauppi et al. (2000) studied the possible role of the IL9R gene in the
development of asthma. They found that the sDF2*10 allele of the IL9R
gene was more frequently transmitted than untransmitted to asthmatic
offspring (34 vs 16), that the allele was found to be homozygous more
often than expected in asthma patients, and that a specific X-chromosome
haplotype was found to be associated with asthma.

ANIMAL MODEL

Nowak et al. (2009) showed that mouse T cells or Th17 cells (see 603149)
stimulated with Tgfb (190180) produced Il9. Neutralization of Il9
ameliorated experimental autoimmune encephalomyelitis (EAE) in mice, and
EAE was delayed and attenuated in mice lacking Il9r. Less severe EAE
correlated with decreases in Th17 cells and macrophages producing Il6
(147620) in the central nervous system, as well as mast cells in
regional lymph nodes. Nowak et al. (2009) proposed that IL9 is a
Th17-derived cytokine that contributes to inflammatory disease.

*FIELD* RF
1. Abdelilah, S. G.; Latifa, K.; Esra, N.; Cameron, L.; Bouchaib,
L.; Nicolaides, N. C.; Levitt, R. C.; Hamid, Q.: Functional expression
of IL-9 receptor by human neutrophils from asthmatic donors: role
in IL-8 release. J Immun. 166: 2768-2774, 2001.

2. Chang, M.; Engel, G.; Benedict, C.; Basu, R.; McNinch, J.: Isolation
and characterization of the human interleukin-9 receptor gene. Blood 83:
3199-3205, 1994.

3. Demoulin, J.-B.; Uyttenhove, C.; Van Roost, E.; de Lestre, B.;
Donckers, D.; Van Snick, J.; Renauld, J.-C.: A single tyrosine of
the interleukin-9 (IL-9) receptor is required for STAT activation,
antiapoptotic activity, and growth regulation by IL-9. Molec. Cell.
Biol. 16: 4710-4716, 1996.

4. Gounni, A. S.; Hamid, Q.; Rahman, S. M.; Hoeck, J.; Yang, J.; Shan,
L.: IL-9-mediated induction of eotaxin1/CCL11 in human airway smooth
muscle cells. J. Immun. 173: 2771-2779, 2004.

5. Ihle, J. N.; Kerr, I. M.: Jaks and Stats in signaling by the cytokine
receptor superfamily. Trends Genet. 11: 69-74, 1995.

6. Kauppi, P.; Laitinen, T.; Ollikainen, V.; Mannila, H.; Laitinen,
L. A.; Kere, J.: The IL9R region contribution in asthma is supported
by genetic association in an isolated population. Europ. J. Hum.
Genet. 8: 788-792, 2000.

7. Kermouni, A.; Van Roost, E.; Arden, K. C.; Vermeesch, J. R.; Weiss,
S.; Godelaine, D.; Flint, J.; Lurquin, C.; Szikora, J.-P.; Higgs,
D. R.; Marynen, P.; Renauld, J.-C.: The IL-9 receptor gene (IL9R):
genomic structure, chromosomal localization in the pseudoautosomal
region of the long arm of the sex chromosomes, and identification
of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter. Genomics 29:
371-382, 1995.

8. Kvaloy, K.; Galvagni, F.; Brown, W. R. A.: The sequence organization
of the long arm pseudoautosomal region of the human sex chromosomes. Hum.
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9. Nowak, E. C.; Weaver, C. T.; Turner, H.; Begum-Haque, S.; Becher,
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1653-1660, 2009.

10. Renauld, J.-C.; Druez, C.; Kermouni, A.; Houssiau, F.; Uyttenhove,
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5690-5694, 1992.

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and is expressed from the Y. Hum. Molec. Genet. 6: 1-8, 1997.

*FIELD* CN
Paul J. Converse - updated: 4/12/2011
Paul J. Converse - updated: 12/1/2010
Paul J. Converse - updated: 11/10/2005
Paul J. Converse - updated: 3/28/2001
Victor A. McKusick - updated: 3/15/2001
Jennifer P. Macke - updated: 5/27/1997
Victor A. McKusick - updated: 2/12/1997
Alan F. Scott - updated: 11/3/1995

*FIELD* CD
Victor A. McKusick: 1/30/1996

*FIELD* ED
mgross: 05/06/2011
mgross: 5/6/2011
terry: 4/12/2011
mgross: 12/2/2010
terry: 12/1/2010
mgross: 11/10/2005
mgross: 4/2/2001
mgross: 3/30/2001
terry: 3/28/2001
mcapotos: 3/26/2001
mcapotos: 3/23/2001
terry: 3/15/2001
dkim: 7/2/1998
alopez: 7/18/1997
terry: 2/12/1997
terry: 2/6/1997
terry: 4/17/1996
mark: 1/31/1996
joanna: 1/30/1996

RBCC Red Blood Cell Collection

Full text data of IL9R