IL2RG gene

GPTKB entity

Statements (52)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alsoKnownAs gptkb:common_gamma_chain
gptkb:CD132
gptkbp:associatedWith gptkb:X-linked_severe_combined_immunodeficiency
X-linked combined immunodeficiency
gptkbp:clinicalTrialPhase genetic testing for SCID
gptkbp:discoveredBy Sugamura et al.
gptkbp:encodes interleukin-2 receptor gamma chain
gptkbp:Entrez_Gene_ID 3561
ENSG00000147168
gptkbp:expressedIn hematopoietic cells
gptkbp:firstDescribed 1993
gptkbp:fullName gptkb:interleukin_2_receptor_subunit_gamma
gptkbp:function component of several interleukin receptors
essential for lymphocyte development
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 6010
https://www.w3.org/2000/01/rdf-schema#label IL2RG gene
gptkbp:inheritance X-linked recessive
gptkbp:interactsWith gptkb:JAK3
gptkb:IL2RB
IL2RA
IL7R
IL4R
IL15RA
IL9R
gptkbp:involvedIn immune response
T cell development
B cell development
NK cell development
gptkbp:length 8 exons
369 amino acids
gptkbp:locatedOnChromosome X
gptkbp:location Xq13.1
gptkbp:mutationAssociatedWith gptkb:X-linked_severe_combined_immunodeficiency
nonsense
missense
frameshift
splice site
gptkbp:OMIM 308380
gptkbp:orthologInMouse gptkb:Il2rg
gptkbp:proteinFamily fibronectin type III domain
cytokine receptor common gamma chain domain
gptkbp:RefSeq NM_000206
gptkbp:symbol gptkb:IL2RG
gptkbp:therapeuticApproach gene therapy
hematopoietic stem cell transplantation
gptkbp:UniProtID P31785
gptkbp:bfsParent gptkb:common_gamma_chain
gptkb:interleukin-2_receptor
gptkb:X-linked_SCID
gptkbp:bfsLayer 7