Entrez Gene ID | 11278 |
---|---|
Official Gene Symbol | KLF12 (GeneCards) |
Full name | Kruppel like factor 12 |
Location | 13q22.1 |
Other ids | Vega : OTTHUMG00000017078 MIM : 607531 HGNC : HGNC:6346 Ensembl : ENSG00000118922 |
Other names | AP2REP, AP-2rep, HSPC122 |
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] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
17404 | 11278 | KLF12 | 13 | 74284053 | 74284053 | Asymptomatic | HiSeq X Ten |
17727 | 11278 | KLF12 | 13 | 74844332 | 74844332 | Asymptomatic | HiSeq X Ten |
17876 | 11278 | KLF12 | 13 | 74513048 | 74513048 | Cockayne syndrome | HiSeq X Ten |
17929 | 11278 | KLF12 | 13 | 74775996 | 74775996 | Xeroderma Pigmentosum | HiSeq X Ten |
23754 | 11278 | KLF12 | 13 | 74835688 | 74835688 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
27651 | 11278 | KLF12 | 13 | 74893103 | 74893103 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
27740 | 11278 | KLF12 | 13 | 74323194 | 74323194 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
27756 | 11278 | KLF12 | 13 | 74669144 | 74669144 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |