|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:common_gamma_chain
gptkb:CD132
|
|
gptkbp:associatedWith
|
gptkb:Omenn_syndrome
gptkb:T-B+NK-_SCID
gptkb:X-linked_severe_combined_immunodeficiency_(SCID)
|
|
gptkbp:component
|
gptkb:interleukin-2_receptor
gptkb:interleukin-15_receptor
gptkb:interleukin-21_receptor
gptkb:interleukin-4_receptor
gptkb:interleukin-7_receptor
gptkb:interleukin-9_receptor
|
|
gptkbp:discoveredBy
|
multiple research groups in the 1990s
|
|
gptkbp:encodes
|
gptkb:interleukin-2_receptor_subunit_gamma_protein
|
|
gptkbp:Entrez_Gene_ID
|
3561
ENSG00000147168
|
|
gptkbp:expressedIn
|
immune cells
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
gptkb:interleukin_2_receptor_subunit_gamma
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6010
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IL2RG
|
|
gptkbp:involvedIn
|
immune system development
cytokine receptor activity
|
|
gptkbp:locatedOnChromosome
|
X
|
|
gptkbp:location
|
Xq13.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:X-linked_SCID
|
|
gptkbp:mutationInheritance
|
X-linked recessive
|
|
gptkbp:OMIM
|
308380
|
|
gptkbp:orthologInMouse
|
gptkb:Il2rg
|
|
gptkbp:product
|
gptkb:CD132
|
|
gptkbp:requires
|
lymphocyte development
|
|
gptkbp:target
|
gene therapy for SCID
|
|
gptkbp:UniProtID
|
P31785
|
|
gptkbp:bfsParent
|
gptkb:immunodeficiency
|
|
gptkbp:bfsLayer
|
6
|