AlphaFold predicted structure
AR · P10275
Mean pLDDT
57.3/ 100
Low
920 residues
Confidence breakdown
- Very high(≥ 90)27%
- Confident(70–90)11%
- Low(50–70)4%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
AR
Chr Xq12androgen receptor
- Aliases:
- AIS, NR3C4, SMAX1, HUMARA
- MANE:
- ENST00000374690.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesDifferences in sex development
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesAdult onset neurodegenerative disorder
OtherAmyotrophic lateral sclerosis/motor neuron disease
OtherEctodermal dysplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFamilial breast cancer
Familial Meniere Disease
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Disease associations (Open Targets)
androgen insensitivity syndrome
0.84partial androgen insensitivity syndrome
0.82prostate cancer
0.80Kennedy disease
0.74prostate carcinoma
0.74neoplasm
0.68hypogonadism
0.68prostate adenocarcinoma
0.67Familial prostate cancer
0.62hypogonadotropic hypogonadism
0.62
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Androgen receptor
Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues (PubMed:19022849). Transcription factor activity is modulated by bound coactivator and corepressor proteins like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3
Diseases associated with AR
Curated MONDO disease pages that list AR among their top associated genes.