help  | about  | cite  | software

Gene : AR Homo sapiens

Name  ? androgen receptor Cytological Location  Xq12
Brief Description  androgen receptor
description  The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
  • synonyms:
  • SBMA,
  • dihydrotestosterone receptor,
  • KD,
  • DHTR,
  • AIS,
  • SBMA,
  • DHTR,
  • HUMARA,
  • spinal and bulbar muscular atrophy,
  • uc004dwu.3,
  • M20132,
  • SMAX1,
  • NR3C4,
  • NR3C4,
  • AR8,
  • AR,
  • testicular feminization,
  • HUMARA,
  • HYSP1,
  • NM_000044,
  • TFM,
  • AIS,
  • HGNC:644,
  • OTTHUMG00000021740,
  • Kennedy disease,
  • SMAX1
  • identifiers:
  • 367,
  • ENSG00000169083,
  • AR

Genome feature

Region: gene ? Length: 185997  
Location: X:67544623-67730619 Cyto location: Xq12


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

5 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

20 Data Sets

12 Homologues

1 Located Features

90 Rna Seq Results