| GENE NAME | AR |
| CHROMOSOME | X |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000169083 |
| UNIPROT ACCESSION NUMBER | P10275 |
| GO MOLECULAR FUNCTION | ['zinc ion binding', 'transcription cis-regulatory region binding', 'nuclear receptor activity', 'steroid binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding', 'DNA-binding transcription factor activity', 'POU domain binding', 'androgen binding', 'transcription coactivator binding', 'chromatin binding', 'ATPase binding', 'beta-catenin binding', 'RNA polymerase II general transcription initiation factor binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'enzyme binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'signaling receptor binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04114; hsa05200; hsa05215; R-HSA-162582; R-HSA-194315; R-HSA-195258; R-HSA-212436; R-HSA-2262752; R-HSA-2990846; R-HSA-3108232; R-HSA-3371497; R-HSA-383280; R-HSA-392499; R-HSA-4090294; R-HSA-5625740; R-HSA-5625886; R-HSA-5688426; R-HSA-5689880; R-HSA-597592; R-HSA-73857; R-HSA-74160; R-HSA-8878166; R-HSA-8940973; R-HSA-8941326; R-HSA-8953897 |
| 16 combinations linked to AR | OLI329; OLI299; OLI998; OLI1002; OLI1003; OLI1006; OLI999; OLI1000; OLI1005; OLI1564; OLI997; OLI996; OLI1570; OLI1001; OLI1004; OLI1545 |
| 15 variants linked to AR | AR:c.1995delTGAAGGCTATGAATGTCinsCAGAA, p.666delGluGlyTyrGluCysGlninsArgLys; Copy Number Variant deletion on chromosome X of the exon2 8 in the gene AR; AR:c.341C>A, p.Ala114Asp; AR:c.2636T>G, p.Phe879Cys; AR:c.1768G>C, p.Gly590Arg; AR:c.884T>C, p.Leu295Pro; AR:c.2667C>T, p.Ser889=; AR:c.2521C>T, p.Arg841Cys; AR:c.1175C>G, p.Pro392Arg; AR:c.528C>A, p.Ser176Arg; AR:c.2612C>T, p.Ala871Val; AR:c.2227A>G, p.Met743Val; AR:c.2521C>G, p.Arg841Gly; AR:c.1768G>T, p.Gly590Trp; AR:c.1833T>A, p.Asn611Lys |
| 5 diseases linked to AR | Amyotrophic lateral sclerosis; 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development; Androgen insensitivity syndrome; Non-syndromic posterior hypospadias |