AR Gene (Androgen Receptor): Function, Mutations, and Disease Associations | Biomedical Resource

The AR gene encodes the androgen receptor, a ligand-activated nuclear transcription factor that mediates the effects of androgens (testosterone and dihydrotestosterone) in target tissues. It plays a critical role in male sexual differentiation, development, and maintenance of male reproductive tissues, as well as in non-reproductive tissues like muscle, bone, and brain. Mutations and dysregulation of AR are associated with various conditions, including androgen insensitivity syndrome, spinal bulbar muscular atrophy (Kennedy disease), and prostate cancer.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Androgen receptor signaling pathway

• Prostate cancer pathway

• Nuclear receptor transcription pathway

• Signaling by nuclear receptors

• Regulation of gene expression by steroid hormones

The androgen receptor (AR) is a 110 kDa nuclear receptor composed of an N-terminal regulatory domain, a DNA-binding domain (DBD), a hinge region, and a ligand-binding domain (LBD). Upon binding androgens, AR translocates to the nucleus, homodimerizes, and binds to androgen response elements (AREs) in target gene promoters, recruiting coactivators to modulate transcription. AR also has non-genomic actions, activating kinase signaling cascades. Post-translational modifications (phosphorylation, acetylation, ubiquitination) regulate its stability and activity. In prostate cancer, AR signaling is a key driver, and therapies targeting AR are central to treatment.