The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of... See more...

Aliases for IL9R Gene

Aliases for IL9R Gene

  • Interleukin 9 Receptor 2 3 5
  • Interleukin-9 Receptor 3 4
  • IL-9 Receptor 3 4
  • CD129 2 3
  • IL-9R 3 4
  • CD129 Antigen 4
  • IL9R 5

External Ids for IL9R Gene

Previous GeneCards Identifiers for IL9R Gene

  • GC0XP149216
  • GC0XP151533
  • GC0XP152600
  • GC0XP153659
  • GC0YP057668
  • GC0XP154790
  • GC0XP155227
  • GC0XP143710

Summaries for IL9R Gene

Entrez Gene Summary for IL9R Gene

  • The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for IL9R Gene

IL9R (Interleukin 9 Receptor) is a Protein Coding gene. Diseases associated with IL9R include Bronchitis and Asthma. Among its related pathways are Akt Signaling and Cytokine Signaling in Immune system. Gene Ontology (GO) annotations related to this gene include interleukin-9 receptor activity and interleukin-9 binding. An important paralog of this gene is IL2RB.

UniProtKB/Swiss-Prot Summary for IL9R Gene

Gene Wiki entry for IL9R Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IL9R Gene

Genomics for IL9R Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IL9R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ155997 Enhancer 0.7 Ensembl 250.7 +0.1 70 2.6 NCOR1 TAL1 CBFB RELA TAF1 BHLHE40 FOXM1 HDAC2 EGR1 NRF1 IL9R HSALNG0140917-001
GH0XJ155999 Enhancer 0.7 Ensembl 0.7 +3.5 3518 2.9 MYC NCOR1 ZNF592 SMAD5 TAL1 RELA PRDM10 ETV1 POLR2A TCF12 ENSG00000270726 IL9R HSALNG0140917-001
GH0XJ156009 Enhancer 0.9 Ensembl 0.4 +11.8 11769 0.8 PLRG1 FOXA1 ZNF639 ZNF148 ARNT NONO HES1 ZNF521 CTBP1 NKRF WASH6P TMLHE-AS1 HSALNG0140918-001 ENSG00000270726 WASIR1 IL9R
GH0XJ156016 Promoter 0.7 EPDnew Ensembl 0.4 +19.0 18970 0.8 WASIR1 HSALNG0140918-001 ENSG00000270726 IL9R
GH0XJ155880 Promoter 1.8 EPDnew Ensembl CraniofacialAtlas 0.1 -116.1 -116130 2.2 BCLAF1 SP1 ZNF207 MYC IKZF1 ZNF600 SIX5 JUND ZNF580 ZNF592 VAMP7 WASH6P piR-31162-550 IL9R
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IL9R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IL9R

Top Transcription factor binding sites by QIAGEN in the IL9R gene promoter:
  • p53
  • STAT3

Genomic Locations for IL9R Gene

Latest Assembly
chrX:155,997,631-156,013,017
(GRCh38/hg38)
Size:
15,387 bases
Orientation:
Plus strand

Previous Assembly
chrX:155,227,361-155,240,482
(GRCh37/hg19 by Entrez Gene)
Size:
13,122 bases
Orientation:
Plus strand

chrX:155,227,246-155,240,482
(GRCh37/hg19 by Ensembl)
Size:
13,237 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chrY:57,184,151-57,199,537 (+)

Genomic View for IL9R Gene

Genes around IL9R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL9R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL9R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL9R Gene

Proteins for IL9R Gene

  • Protein details for IL9R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01113-IL9R_HUMAN
    Recommended name:
    Interleukin-9 receptor
    Protein Accession:
    Q01113
    Secondary Accessions:
    • B9ZVT0
    • Q14634
    • Q8WWU1
    • Q96TF0

    Protein attributes for IL9R Gene

    Size:
    521 amino acids
    Molecular mass:
    57147 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB30844.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 2 (PAR2) of X and Y chromosomes.

    Alternative splice isoforms for IL9R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL9R Gene

Post-translational modifications for IL9R Gene

  • Glycosylation at Asn117 and Asn156
  • Ubiquitination at Lys94 and Lys187
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IL9R Gene

Domains & Families for IL9R Gene

Gene Families for IL9R Gene

Protein Domains for IL9R Gene

InterPro:
Blocks:
  • Short hematopoietin receptor, family 1

Suggested Antigen Peptide Sequences for IL9R Gene

GenScript: Design optimal peptide antigens:
  • Interleukin-9 receptor (IL9R_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01113

UniProtKB/Swiss-Prot:

IL9R_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
Domain:
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
Family:
  • Belongs to the type I cytokine receptor family. Type 4 subfamily.
genes like me logo Genes that share domains with IL9R: view

Function for IL9R Gene

Molecular function for IL9R Gene

UniProtKB/Swiss-Prot Function:
This is a receptor for interleukin-9.
GENATLAS Biochemistry:
interleukin 9 receptor,X-linked,escaping X inactivation,subtelomeric long arm pseudoautosomal region (PARXQ),with several alternatively spliced forms

Phenotypes From GWAS Catalog for IL9R Gene

Gene Ontology (GO) - Molecular Function for IL9R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA --
GO:0004919 interleukin-9 receptor activity TAS 1376929
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with IL9R: view
genes like me logo Genes that share phenotypes with IL9R: view

Animal Models for IL9R Gene

MGI Knock Outs for IL9R:
  • Il9r Il9r<tm1Jcrd>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL9R

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for IL9R Gene

Localization for IL9R Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL9R Gene

Cell membrane. Single-pass type I membrane protein. Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IL9R gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for IL9R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space TAS 1376929
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1376929
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IL9R: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL9R Gene

Pathways & Interactions for IL9R Gene

PathCards logo

SuperPathways for IL9R Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
.51
.47
.43
2 TGF-Beta Pathway
.60
.60
.57
.51
3 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
.42
.36
4 Akt Signaling
.60
.60
.55
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with IL9R: view

Pathways by source for IL9R Gene

1 GeneGo (Thomson Reuters) pathway for IL9R Gene
  • Immune response IL-9 signaling pathway
13 Qiagen pathways for IL9R Gene
  • Akt Signaling
  • Antioxidant Action of Vitamin-C
  • Glucocorticoid Receptor Signaling
  • IL-9 Pathway
  • JAK-STAT Pathway

SIGNOR curated interactions for IL9R Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IL9R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 1376929
GO:0038113 interleukin-9-mediated signaling pathway TAS --
GO:0042127 regulation of cell proliferation TAS 1376929
genes like me logo Genes that share ontologies with IL9R: view

Drugs & Compounds for IL9R Gene

(1) Additional Compounds for IL9R Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IL9R: view

Transcripts for IL9R Gene

mRNA/cDNA for IL9R Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IL9R

Alternative Splicing Database (ASD) splice patterns (SP) for IL9R Gene

No ASD Table

Relevant External Links for IL9R Gene

GeneLoc Exon Structure for
IL9R

Expression for IL9R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IL9R Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IL9R

SOURCE GeneReport for Unigene cluster for IL9R Gene:

Hs.406228
genes like me logo Genes that share expression patterns with IL9R: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IL9R Gene

Orthologs for IL9R Gene

This gene was present in the common ancestor of chordates.

Orthologs for IL9R Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia IL9R 29 30
  • 78.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Il9r 29 16 30
  • 74.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IL9R 29 30
  • 74.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Il9r 29
  • 72.41 (n)
Chimpanzee
(Pan troglodytes)
Mammalia IL9R 30
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IL9R 30
  • 40 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IL9R 30
  • 31 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IL9R 29 30
  • 51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IL9R 30
  • 30 (a)
OneToOne
Species where no ortholog for IL9R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for IL9R Gene

ENSEMBL:
Gene Tree for IL9R (if available)
TreeFam:
Gene Tree for IL9R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IL9R: view image
Alliance of Genome Resources:
Additional Orthologs for IL9R

Paralogs for IL9R Gene

Paralogs for IL9R Gene

genes like me logo Genes that share paralogs with IL9R: view

Variants for IL9R Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IL9R Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs142104921 Benign: not provided 156,009,834(+) G/A
NM_002186.3(IL9R):c.991G>A (p.Gly331Arg)
MISSENSE_VARIANT,SYNONYMOUS
rs147385831 Benign: not provided 156,009,937(+) G/A
NM_002186.3(IL9R):c.1094G>A (p.Arg365His)
MISSENSE_VARIANT,THREE_PRIME_UTR
rs148050525 Benign: not provided 156,004,559(+) C/T
NM_002186.3(IL9R):c.573C>T (p.Ala191=)
SYNONYMOUS
rs3093496 Benign: not provided 156,003,570(+) G/A
NM_002186.3(IL9R):c.254+10G>A
INTRON
rs149119910 -- p.Tyr288Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IL9R Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IL9R Gene

Variant ID Type Subtype PubMed ID
esv22690 CNV loss 19812545
nsv1110654 CNV duplication 24896259
nsv1125165 CNV duplication 24896259
nsv1150813 CNV duplication 26484159

Variation tolerance for IL9R Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.91; 74.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IL9R Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL9R
Leiden Open Variation Database (LOVD)
IL9R

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL9R Gene

Disorders for IL9R Gene

MalaCards: The human disease database

(4) MalaCards diseases for IL9R Gene - From: COP and GCD

Disorder Aliases PubMed IDs
bronchitis
  • acute bronchitis
asthma
  • asthma, susceptibility to
trichinosis
  • trichinella spiralis infection
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards
Search IL9R in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IL9R

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IL9R: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL9R Gene

Publications for IL9R Gene

  1. 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. (PMID: 8666384) Kermouni A … Higgs DR (Genomics 1995) 2 3 4 22
  2. The IL9R region contribution in asthma is supported by genetic association in an isolated population. (PMID: 11039580) Kauppi P … Kere J (European journal of human genetics : EJHG 2000) 3 22 40
  3. Expression cloning of the murine and human interleukin 9 receptor cDNAs. (PMID: 1376929) Renauld JC … Van Snick J (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4
  4. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PMID: 20503287) Schuurhof A … Janssen R (Pediatric pulmonology 2010) 3 40
  5. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 40

Products for IL9R Gene

Sources for IL9R Gene