KLF12
KLF transcription factor 12
Summary
Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs753676273 | 13:74,289,588 | C/T | — | uncertain significance |
| rs199620438 | 13:74,289,610 | A/G | — | uncertain significance |
| rs750839981 | 13:74,289,619 | G/A | — | uncertain significance |
| rs191851063 | 13:74,373,237 | G/A | intron variant | — |
| rs2502642942 | 13:74,387,350 | T/A | — | uncertain significance |
| rs201686630 | 13:74,387,355 | T/C | — | uncertain significance |
| rs1462483269 | 13:74,387,407 | C/T | — | uncertain significance |
| rs74095758 | 13:74,388,061 | C/T | intron variant | — |
| rs574711622 | 13:74,392,345 | C/T | — | — |
| rs535553088 | 13:74,420,137 | G/C | — | uncertain significance |
| rs538182823 | 13:74,420,210 | C/T | — | uncertain significance |
| rs755535662 | 13:74,420,216 | A/T | — | uncertain significance |
| rs768991101 | 13:74,420,263 | G/A | — | uncertain significance |
| rs142451819 | 13:74,420,270 | G/A | — | uncertain significance |
| rs777942888 | 13:74,420,278 | G/A | — | uncertain significance |
| rs1173461029 | 13:74,420,444 | C/T | — | uncertain significance |
| rs9318225 | 13:74,491,265 | T/C | intron variant | — |
| rs1887346 | 13:74,493,002 | G/T | — | — |
| rs17061696 | 13:74,511,991 | G/A | — | — |
| rs765752275 | 13:74,518,121 | T/G | — | uncertain significance |
| rs1480963536 | 13:74,518,152 | C/A | — | uncertain significance |
| rs765691786 | 13:74,518,188 | T/C | — | uncertain significance |
| rs9573330 | 13:74,518,210 | G/A | splice region variant | — |
| rs1886512 | 13:74,520,186 | T/A | regulatory region variant | — |
| rs78396746 | 13:74,595,280 | A/G | intron variant | — |
| rs1324913 | 13:74,635,588 | G/A | — | — |
| rs9565072 | 13:74,639,799 | T/A | — | — |
| rs4477573 | 13:74,678,341 | A/T | — | — |
| rs9565076 | 13:74,681,260 | T/C | intron variant | — |
| rs1360978 | 13:74,699,684 | T/A | — | — |
| rs1336670 | 13:74,700,045 | G/C | — | — |
| rs4255673 | 13:74,701,030 | G/C | intron variant | — |
| rs12430284 | 13:74,712,716 | G/A | upstream gene variant | — |
| rs8000245 | 13:74,730,392 | C/T | intergenic variant | — |
| rs7320064 | 13:74,730,980 | G/A | intergenic variant | — |
| rs12429889 | 13:74,742,322 | T/C | intergenic variant | — |
| rs562347866 | 13:74,761,512 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.