|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:AR_gene
|
|
gptkbp:associatedWith
|
gptkb:androgen_insensitivity_syndrome
gptkb:spinal_and_bulbar_muscular_atrophy
prostate cancer
|
|
gptkbp:CAGRepeatExpansionAssociatedWith
|
gptkb:spinal_and_bulbar_muscular_atrophy
|
|
gptkbp:contains
|
CAG trinucleotide repeat
|
|
gptkbp:discoveredBy
|
geneticists studying androgen insensitivity
|
|
gptkbp:encodes
|
androgen receptor protein
|
|
gptkbp:Entrez_Gene_ID
|
367
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:prostate
brain
testes
|
|
gptkbp:firstDescribed
|
1980s
|
|
gptkbp:function
|
transcription factor
nuclear receptor
|
|
gptkbp:HGNC_ID
|
HGNC:644
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Androgen Receptor gene
|
|
gptkbp:involvedIn
|
androgen signaling pathway
|
|
gptkbp:length
|
~90 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xq11-12
gptkb:X_chromosome
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Kennedy's_disease
nonsense
missense
frameshift
CAG repeat expansion
androgen insensitivity
|
|
gptkbp:numberOfExons
|
8
|
|
gptkbp:OMIM
|
313700
|
|
gptkbp:orthologInMouse
|
gptkb:Ar
|
|
gptkbp:proteinFamily
|
DNA-binding domain
N-terminal domain
ligand-binding domain
hinge region
|
|
gptkbp:regulates
|
gptkb:Animalia
fertility
hair growth
muscle growth
bone density
male sexual development
secondary sexual characteristics
expression of androgen-responsive genes
|
|
gptkbp:target
|
gptkb:dihydrotestosterone
testosterone
antiandrogen drugs
|
|
gptkbp:UniProtID
|
P10275
|
|
gptkbp:bfsParent
|
gptkb:ADNR
|
|
gptkbp:bfsLayer
|
8
|