Gene Gene information from NCBI Gene database.
Entrez ID 3581
Gene name Interleukin 9 receptor
Gene symbol IL9R
Synonyms (NCBI Gene)
CD129IL-9R
Chromosome X|Y
Chromosome location Xq28 and Yq12
Summary 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 gamm
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IEA
GO:0004919 Function Interleukin-9 receptor activity IBA
GO:0004919 Function Interleukin-9 receptor activity IDA 8193355
GO:0004919 Function Interleukin-9 receptor activity TAS 1376929
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300007 6030 ENSG00000124334
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01113
Protein name Interleukin-9 receptor (IL-9 receptor) (IL-9R) (CD antigen CD129)
Protein function Plays an important role in the immune response against parasites by acting as a receptor of IL9.
PDB 7OX5
Family and domains
Sequence
MGLGRCIWEGWTLESEALRRDMGTWLLACICICTCVCLGVSVTGEGQGPRSRTFTCLTNN
ILRIDCHWSAPELGQGSSPWLLFTSNQAPGGTHKCILRGSECTVVLPPEAVLVPSDNFTI
TFHHCMSGREQVSLVDPEYLPRRHVKLDPPSDLQSNISSGHCILTWSISPALEPMTTLLS
YELAFKKQEEAWEQAQHRDHIVGVTWLILEAFELDPGFIHEARLRVQMATLEDDVVEEER
YTGQWSEWSQPVCFQAPQRQGPLIPPWGWPGNTLVAVSIFLLLTGPTYLLFKLSPRVKRI
FYQNVPSPAMFFQPLYSVHNGNFQTWMGAHGAGVLLSQDCAGTPQGALEPCVQEATALLT
CGPARPWKSVALEEEQEGPGTRLPGNLSSEDVLPAGCTEWRVQTLAYLPQEDWAPTSLTR
PAPPDSEGSRSSSSSSSSNNNNYCALGCYGGWHLSALPGNTQSSGPIPALACGLSCDHQG
LETQQGVAWVLAGHCQRPGLHEDLQGMLLPSVLSKARSWTF
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Hematopoietic cell lineage
  Interleukin-9 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN INJURIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 31996468 Inhibit
★☆☆☆☆
Found in Text Mining only
Alzheimer disease, familial, type 3 Alzheimer disease BEFREE 21371865, 22413008
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 27543964 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 30114630
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 10629460, 10871433, 11039580, 11160343, 21371865, 9782093
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 11160343, 9782093 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 29567622
★☆☆☆☆
Found in Text Mining only
Bronchial Hyperreactivity Bronchial Hyperreactivity BEFREE 11160343, 15007348, 9782093
★☆☆☆☆
Found in Text Mining only
Bronchitis Chronic Bronchitis Pubtator 15875066 Associate
★☆☆☆☆
Found in Text Mining only
Bronchitis, Chronic Gastric Cancer BEFREE 10629460
★☆☆☆☆
Found in Text Mining only