AR Chromosome X
Androgen receptor
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What This Gene Does
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]
Gene Info
Gene Group
Nuclear receptor subfamily 3 group C
Locus Type
gene with protein product
Location
Xq12
Ensembl
ENSG00000169083
Associated Conditions (37)
Androgen resistance syndrome
Kennedy disease
Prostate cancer
somatic
Partial androgen insensitivity syndrome
Male infertility
Prostate cancer susceptibility
Non-obstructive azoospermia
Ovarian cancer
Inborn genetic diseases
Castleman-Kojima disease
AR-related disorder
Hypospadias 1
X-linked
Posterior hypospadias
Familial prostate cancer
Neoplasm
hereditary
X-linked 3
Male infertility with azoospermia or oligozoospermia due to single gene mutation
+17 more conditions
Key Variants
RS1057521122
Conflicting classifications of pathogenicity
Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome
Health Risk
RS1064793480
Conflicting classifications of pathogenicity
Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome
Health Risk
RS1206863775
Conflicting classifications of pathogenicity
Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome
Health Risk
RS137852571
Conflicting classifications of pathogenicity
Prostate cancer, somatic, Androgen resistance syndrome
Health Risk
RS137852591
Conflicting classifications of pathogenicity
Partial androgen insensitivity syndrome, Kennedy disease, Androgen resistance syndrome
Health Risk
RS137852593
Conflicting classifications of pathogenicity
Prostate cancer susceptibility, Prostate cancer, Androgen resistance syndrome
Health Risk
RS142280455
Conflicting classifications of pathogenicity
Non-obstructive azoospermia, Prostate cancer, Androgen resistance syndrome
Health Risk
RS1452728096
Conflicting classifications of pathogenicity
Ovarian cancer, Ovarian cancer
Health Risk
RS146618994
Conflicting classifications of pathogenicity
Androgen resistance syndrome, Kennedy disease, Inborn genetic diseases
Health Risk
RS148972137
Conflicting classifications of pathogenicity
Kennedy disease, Androgen resistance syndrome, Male infertility
Health Risk
RS1800053
Conflicting classifications of pathogenicity
Partial androgen insensitivity syndrome, Castleman-Kojima disease, Kennedy disease
Health Risk
RS200185441
Conflicting classifications of pathogenicity
Androgen resistance syndrome, Kennedy disease, Partial androgen insensitivity syndrome
Health Risk
All Variants (313)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1602143677 | Health Risk | Pathogenic | — |
| RS1602144034 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS1602144278 | Health Risk | Pathogenic | — |
| RS1602144428 | Health Risk | Pathogenic | — |
| RS1602144930 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS1602220874 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS1602272308 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS1602272697 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS1602278831 | Health Risk | Pathogenic | Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome |
| RS1602279488 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS1929657778 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS1929660142 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS1929664860 | Health Risk | Pathogenic | — |
| RS1929683441 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS1929749440 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS1929773822 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS1929774367 | Health Risk | Pathogenic | Pure gonadal dysgenesis 46, XY, Pure gonadal dysgenesis 46 |
| RS2075964906 | Health Risk | Pathogenic | — |
| RS2076094436 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2076118553 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Androgen resistance syndrome |
| RS2076137289 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147313671 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147314874 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147317782 | Health Risk | Pathogenic | — |
| RS2147318231 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS2147318663 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS2147322621 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147322941 | Health Risk | Pathogenic | AR-related disorder, Androgen resistance syndrome, AR-related disorder |
| RS2147323184 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS2147436378 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS2147436590 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS2147497386 | Health Risk | Pathogenic | Partial androgen insensitivity syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147497993 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS2147524430 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147524850 | Health Risk | Pathogenic | Male infertility, Male infertility |
| RS2147525286 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147530793 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS2147530924 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome, Kennedy disease |
| RS2147530929 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS2147535484 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147535489 | Health Risk | Pathogenic | Androgen resistance syndrome, Kennedy disease, Androgen resistance syndrome |
| RS2147535891 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS2147537798 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS2147537806 | Health Risk | Pathogenic | Male infertility, Non-obstructive azoospermia, Male infertility |
| RS2147537840 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Androgen resistance syndrome |
| RS2147537887 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS2147537918 | Health Risk | Pathogenic | Kennedy disease, Androgen resistance syndrome, Kennedy disease |
| RS2147538127 | Health Risk | Pathogenic | See cases, See cases |
| RS2147538369 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |
| RS2147540378 | Health Risk | Pathogenic | Androgen resistance syndrome, Androgen resistance syndrome |