ATOH8
atonal bHLH transcription factor 8
Summary
Enables DNA-binding transcription factor activity and E-box binding activity. Involved in several processes, including positive regulation of SMAD protein signal transduction; positive regulation of endothelial cell differentiation; and regulation of gene expression. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760149255 | 2:85,981,332 | T/C | — | uncertain significance |
| rs1400121719 | 2:85,981,415 | C/G | — | uncertain significance |
| rs369633118 | 2:85,981,458 | C/G | — | uncertain significance |
| rs775970009 | 2:85,981,501 | G/T | — | uncertain significance |
| rs1396628855 | 2:85,981,529 | C/A | — | uncertain significance |
| rs753615804 | 2:85,981,565 | C/T | — | uncertain significance |
| rs778752997 | 2:85,981,574 | G/A | — | uncertain significance |
| rs1319651843 | 2:85,981,575 | G/T | — | uncertain significance |
| rs747123720 | 2:85,981,577 | G/C | — | uncertain significance |
| rs746113017 | 2:85,981,592 | G/A | — | likely benign |
| rs770122243 | 2:85,981,598 | C/T | — | uncertain significance |
| rs910479844 | 2:85,981,613 | G/A | — | uncertain significance |
| rs771443467 | 2:85,981,619 | G/C | — | uncertain significance |
| rs1211242265 | 2:85,981,643 | T/C | — | uncertain significance |
| rs959307736 | 2:85,981,650 | C/T | — | uncertain significance |
| rs1377326288 | 2:85,981,676 | C/T | — | uncertain significance |
| rs977923115 | 2:85,981,685 | C/T | — | uncertain significance |
| rs1017340165 | 2:85,981,704 | C/T | — | uncertain significance |
| rs781183419 | 2:85,981,734 | A/C | — | uncertain significance |
| rs368693659 | 2:85,981,818 | C/G | — | uncertain significance |
| rs761891696 | 2:85,981,853 | C/T | — | uncertain significance |
| rs2466851971 | 2:85,982,034 | C/A | — | uncertain significance |
| rs2466852103 | 2:85,982,063 | G/C | — | uncertain significance |
| rs561316614 | 2:85,985,055 | C/T | — | — |
| rs142344847 | 2:85,991,144 | T/A | — | uncertain significance |
| rs140426323 | 2:85,991,145 | C/G | — | uncertain significance |
| rs762308440 | 2:85,991,165 | A/G | — | uncertain significance |
| rs200636678 | 2:85,991,268 | G/T | — | uncertain significance |
| rs777773100 | 2:85,991,301 | G/A | — | uncertain significance |
| rs4832012 | 2:86,000,500 | G/A | — | — |
| rs35976024 | 2:86,003,971 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.