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]

Tumor type associations:

  • Breast
  • Cervical
  • Colorectal
  • Endometrial
  • Esophageal
  • Gastric
  • Melanoma
  • Pancreatic
  • Prostate
  • Enables transcription cis-regulatory region binding plasma membrane
  • Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding
  • Enables DNA-binding transcription factor activity, RNA polymerase II-specific
  • Enables RNA polymerase II general transcription initiation factor binding
  • Enables transcription coactivator binding
  • Located in chromatin
  • Located in nucleus
  • Located in nucleoplasm
  • Located in cytoplasm
  • Located in cytosol
  • Involved in negative regulation of transcription by RNA polymerase II
  • Involved in in utero embryonic development
  • Involved in regulation of systemic arterial blood pressure
  • Involved in epithelial cell morphogenesis
  • Regulation of transcription, DNA-templated
  • Androgen insensitivity
  • Androgen insensitivity, partial, with or without breast cancer
  • Hypospadias 1, X-linked
  • Spinal and bulbar muscular atrophy of Kennedy
  • Prostate cancer, susceptibility

AR localizations – Subcellular Localization Database

Boghog – Created myself using PyMol based on PDB crystallographic structure 2AM9.

Gene Location