Statements (58)
| Predicate | Object |
|---|---|
| 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
|
| 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
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
AR gene
|