• Gene id: 3561

Gene Summary

• Gene Symbol: IL2RG   Gene   UCSC   Ensembl
• Aliases: CD132, CIDX, IL-2RG, IMD4, P64, SCIDX, SCIDX1
• Gene name: interleukin 2 receptor subunit gamma
• Alternate names: cytokine receptor common subunit gamma, CD132 antigen, IL-2 receptor subunit gamma, IL-2R subunit gamma, common cytokine receptor gamma chain, gammaC, interleukin 2 receptor, gamma, nonfunctional common cytokine receptor gamma chain,
• Gene location: Xq13.1 (71111576: 71107403)     Exons: 8     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 120215

Protein Summary

• Protein general information: P31785  
  • 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)
  • Length: 369  
  • Mass: 42287
• Sequence:

  MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWN
  SSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQN
  LVIPWAPENLTLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRS
  RFNPLCGSAQHWSEWSHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLV
  TEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET

• Structural information:
  • Protein Domains: (156..25-)
    (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR003961  IPR036116  IPR003531  IPR013783  IPR015321  
  • Prosite: PS50853 PS01355
  • CDD: cd00063
  • PDB: 1ILL 1ILM 1ILN 1ITE 2B5I 2ERJ 3BPL 3QAZ 3QB7 4GS7 5M5E 6OEL
  • PDBsum: 1ILL 1ILM 1ILN 1ITE 2B5I 2ERJ 3BPL 3QAZ 3QB7 4GS7 5M5E 6OEL
  • DIP: 173
  • STRING: ENSP00000363318
• Other Databases: GeneCards:  IL2RG  Malacards:  IL2RG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004896	cytokine receptor activity	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0019976	interleukin-2 binding	IBA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0019955	cytokine binding	IBA	molecular function
GO:0043235	receptor complex	IBA	cellular component
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035723	interleukin-15-mediated signaling pathway	TAS	biological process
GO:0005768	endosome	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0038110	interleukin-2-mediated signaling pathway	TAS	biological process
GO:0038111	interleukin-7-mediated signaling pathway	TAS	biological process
GO:0038113	interleukin-9-mediated signaling pathway	TAS	biological process
GO:0038114	interleukin-21-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0035771	interleukin-4-mediated signaling pathway	IEA	biological process
GO:0042010	interleukin-15 receptor activity	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0035723	interleukin-15-mediated signaling pathway	IMP	biological process
GO:0004917	interleukin-7 receptor activity	TAS	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0004913	interleukin-4 receptor activity	TAS	contributes to
GO:0004911	interleukin-2 receptor activity	TAS	contributes to
GO:0050766	positive regulation of phagocytosis	IMP	biological process
GO:0019976	interleukin-2 binding	ISS	molecular function
GO:0009897	external side of plasma membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04144	Endocytosis
hsa04060	Cytokine-cytokine receptor interaction
hsa05166	Human T-cell leukemia virus 1 infection
hsa04630	JAK-STAT signaling pathway
hsa05162	Measles
hsa04061	Viral protein interaction with cytokine and cytokine receptor
hsa04659	Th17 cell differentiation
hsa04658	Th1 and Th2 cell differentiation
hsa05321	Inflammatory bowel disease
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
Combined immunodeficiency	KEGG:H00093
T-B+Severe combined immunodeficiency	KEGG:H00091
Combined immunodeficiency	KEGG:H00093
T-B+Severe combined immunodeficiency	KEGG:H00091
severe combined immunodeficiency	PMID:7557965
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881