Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3561
Gene name Gene Name - the full gene name approved by the HGNC.
Interleukin 2 receptor subunit gamma
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IL2RG
Synonyms (NCBI Gene) Gene synonyms aliases
CD132, CIDX, IL-2RG, IMD4, P64, SCIDX, SCIDX1
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs111033618 G>A Pathogenic Coding sequence variant, missense variant
rs111033619 A>T Pathogenic Coding sequence variant, stop gained
rs111033620 C>T Pathogenic Coding sequence variant, missense variant
rs111033621 A>T Pathogenic Coding sequence variant, missense variant
rs111033622 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT2015430 hsa-miR-4494 CLIP-seq
MIRT2015431 hsa-miR-4499 CLIP-seq
MIRT2015430 hsa-miR-4494 CLIP-seq
MIRT2015431 hsa-miR-4499 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
RXRA Activation 12149223
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0004896 Function Cytokine receptor activity IBA 21873635
GO:0004911 Function Interleukin-2 receptor activity TAS 8266076
GO:0004913 Function Interleukin-4 receptor activity TAS 8266078
GO:0004917 Function Interleukin-7 receptor activity TAS 8266077
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
308380 6010 ENSG00000147168
Protein
UniProt ID P31785
Protein name Cytokine receptor common subunit gamma (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD antigen CD132)
Protein function Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).
PDB 2B5I , 2ERJ , 3BPL , 3QAZ , 3QB7 , 4GS7 , 5M5E , 6OEL , 7S2R , 8ENT , 8EPA , 9JQT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09240 IL6Ra-bind 59 151 Interleukin-6 receptor alpha chain, binding Domain
Sequence
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEV
QCFVFNVEYMNCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKK
EIHLYQTFVVQLQDPREPRRQATQMLKLQNL
VIPWAPENLTLHKLSESQLELNWNNRFLN
HCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEW
SHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLV
TEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAP
PCYTLKPET
Sequence length 369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Endocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Measles
Human T-cell leukemia virus 1 infection
Pathways in cancer
Inflammatory bowel disease
Primary immunodeficiency
  Interleukin-7 signaling
RAF/MAP kinase cascade
Interleukin-4 and Interleukin-13 signaling
Interleukin-15 signaling
Interleukin-9 signaling
Interleukin-2 signaling
Interleukin-21 signaling
Interleukin receptor SHC signaling
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agammaglobulinemia Agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392
View all (17 more)
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Lymphoma Lymphoma rs11540652, rs1592119138, rs1592123162, rs1599367044
Unknown
Disease term Disease name Evidence References Source
Otitis media Otitis Media ClinVar
Omenn Syndrome Omenn syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 32509861
Adrenoleukodystrophy Associate 32072341
Agammaglobulinemia Associate 33959125
Arthritis Reactive Associate 32072341
Arthritis Rheumatoid Associate 17257224
Arthritis Rheumatoid Stimulate 24397353
Autoimmune Diseases Associate 24406074, 31110501
Bone Diseases Metabolic Associate 25565391
Breast Neoplasms Associate 29685151
Carcinoma Adenoid Cystic Associate 22382400