IL2RG
entrez
3561
canonical
uniprot
P31785
canonical
ensembl
ENSG00000147168
resolver
ensp
ENSP00000363318
resolver
ensp
ENSP00000421262
resolver
enst
ENST00000482750
resolver
genesymbol
IL2RG
resolver
hgnc
HGNC:6010
resolver
uniprot
H0Y8J6
resolver
uniprot
Q5FC12
resolver
uniprot_entry
H0Y8J6_HUMAN
resolver
uniprot_entry
IL2RG_HUMAN
resolver
uniprot_sec
Q5FC12
resolver
amino_acid_sequence
MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFVFNVEYMNCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTFVVQLQDPREPRRQATQMLKLQNLVIPWAPENLTLHKLSESQLELNWNNRFLNHCLEHLVQYRTDWDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEWSHPIHWGSNTSKENPFLFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAESLQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET
uniprot
proteins
disease_involvement
DISEASE: Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:10794430, ECO:0000269|PubMed:28747913, ECO:0000269|PubMed:7557965, ECO:0000269|PubMed:7668284, ECO:0000269|PubMed:7860773, ECO:0000269|PubMed:7937790, ECO:0000269|PubMed:8027558, ECO:0000269|PubMed:8088810, ECO:0000269|PubMed:8299698, ECO:0000269|PubMed:8401490, ECO:0000269|PubMed:8605324, ECO:0000269|PubMed:8900089, ECO:0000269|PubMed:9049783, ECO:0000269|PubMed:9058718, ECO:0000269|PubMed:9150740}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: X-linked combined immunodeficiency (XCID) [MIM:312863]: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID. {ECO:0000269|PubMed:7883965, ECO:0000269|PubMed:9399950}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:15123770}.
uniprot
proteins
mass_dalton
42287
uniprot
proteins
protein_family
Type 5 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
10794430
uniprot
proteins
pubmed
12200137
uniprot
proteins
pubmed
15123770
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16293754
uniprot
proteins
pubmed
1631559
uniprot
proteins
pubmed
16477002
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
28747913
uniprot
proteins
pubmed
7529123
uniprot
proteins
pubmed
7557965
uniprot
proteins
pubmed
7668284
uniprot
proteins
pubmed
7860773
uniprot
proteins
pubmed
7883965
uniprot
proteins
pubmed
7937790
uniprot
proteins
pubmed
8027558
uniprot
proteins
pubmed
8088810
uniprot
proteins
pubmed
8266076
uniprot
proteins
pubmed
8266077
uniprot
proteins
pubmed
8266078
uniprot
proteins
pubmed
8299698
uniprot
proteins
pubmed
8401490
uniprot
proteins
pubmed
8514792
uniprot
proteins
pubmed
8605324
uniprot
proteins
pubmed
8648694
uniprot
proteins
pubmed
8900089
uniprot
proteins
pubmed
9049783
uniprot
proteins
pubmed
9058718
uniprot
proteins
pubmed
9150740
uniprot
proteins
pubmed
9399950
uniprot
proteins
sequence_length
369
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15123770}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000269|PubMed:15123770}.
uniprot
proteins
transmembrane_region
TRANSMEM 263..283; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins