|
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
|
|
gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:interactsWith
|
gptkb:JAK3
gptkb:IL2RB
IL2RA
IL7R
IL4R
IL15RA
IL9R
|
|
gptkbp:involvedIn
|
gptkb: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
|
gptkb: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
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IL2RG gene
|