Entrez Gene ID | 117154 |
---|---|
Official Gene Symbol | DACH2 (GeneCards) |
Full name | dachshund family transcription factor 2 |
Location | Xq21.2 |
Other ids | Vega : OTTHUMG00000021944 MIM : 300608 HGNC : HGNC:16814 Ensembl : ENSG00000126733 |
Other names | None |
Summary | This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] |
Found 15 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
22035 | 117154 | DACH2 | X | 86053469 | 86053469 | Asymptomatic | HiSeq X Ten |
22111 | 117154 | DACH2 | X | 85489159 | 85489159 | Asymptomatic | HiSeq X Ten |
22120 | 117154 | DACH2 | X | 85913096 | 85913096 | Asymptomatic | HiSeq X Ten |
22294 | 117154 | DACH2 | X | 86088740 | 86088740 | Cockayne syndrome | HiSeq X Ten |
22311 | 117154 | DACH2 | X | 85953601 | 85953601 | Cockayne syndrome | HiSeq X Ten |
22332 | 117154 | DACH2 | X | 85786445 | 85786445 | Xeroderma Pigmentosum | HiSeq X Ten |
22333 | 117154 | DACH2 | X | 85957311 | 85957311 | Xeroderma Pigmentosum | HiSeq X Ten |
22375 | 117154 | DACH2 | X | 85811584 | 85811584 | Xeroderma Pigmentosum | HiSeq X Ten |
22376 | 117154 | DACH2 | X | 86245230 | 86245230 | Xeroderma Pigmentosum | HiSeq X Ten |
22389 | 117154 | DACH2 | X | 86621344 | 86621344 | Xeroderma Pigmentosum | HiSeq X Ten |
22405 | 117154 | DACH2 | X | 86346619 | 86346619 | Xeroderma Pigmentosum | HiSeq X Ten |
24141 | 117154 | DACH2 | X | 86571404 | 86571404 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28762 | 117154 | DACH2 | X | 85447371 | 85447371 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28814 | 117154 | DACH2 | X | 85853161 | 85853161 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28975 | 117154 | DACH2 | X | 86473443 | 86473443 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |