|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:NR3C4
gptkb:AIS
SBMA
DHTR
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:androgen_insensitivity_syndrome
gptkb:spinal_and_bulbar_muscular_atrophy
gptkb:Kennedy's_disease
prostate cancer
|
|
gptkbp:biologicalProcess
|
cell proliferation
apoptosis regulation
muscle development
DNA binding
transcription factor activity
hair follicle development
steroid hormone receptor activity
male sexual differentiation
|
|
gptkbp:cellularComponent
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Kennedy's disease
genetic testing for androgen insensitivity syndrome
|
|
gptkbp:discoveredBy
|
geneticists studying androgen insensitivity
|
|
gptkbp:encodes
|
gptkb:androgen_receptor
|
|
gptkbp:Entrez_Gene_ID
|
367
ENSG00000169083
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:prostate
gptkb:testis
brain
liver
|
|
gptkbp:fullName
|
androgen receptor gene
|
|
gptkbp:function
|
nuclear hormone receptor for androgens
|
|
gptkbp:HGNC_ID
|
HGNC:644
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
AR gene
|
|
gptkbp:length
|
8 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq12
X
|
|
gptkbp:mutationAssociatedWith
|
can cause androgen insensitivity syndrome
can cause spinal and bulbar muscular atrophy
|
|
gptkbp:OMIM
|
313700
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Ar
|
|
gptkbp:pathway
|
androgen signaling pathway
prostate cancer pathway
steroid hormone mediated signaling pathway
|
|
gptkbp:product
|
gptkb:androgen_receptor
|
|
gptkbp:proteinFamily
|
nuclear receptor subfamily 3 group C member 4
|
|
gptkbp:regulates
|
hair growth
male sexual development
prostate growth
spermatogenesis
muscle mass
androgen response element
|
|
gptkbp:symbol
|
AR
|
|
gptkbp:UniProtID
|
P10275
|
|
gptkbp:bfsParent
|
gptkb:Androgen_receptor
gptkb:Dihydrotestosterone_receptor
gptkb:androgen_receptor
gptkb:Kennedy's_disease
|
|
gptkbp:bfsLayer
|
7
|