| Entrez Gene ID | 80258 |
|---|---|
| Official Gene Symbol | EFHC2 (GeneCards) |
| Full name | EF-hand domain containing 2 |
| Location | Xp11.3 |
| Other ids | Vega : OTTHUMG00000021393 MIM : 300817 HGNC : HGNC:26233 Ensembl : ENSG00000183690 |
| Other names | MRX74, dJ1158H2.1 |
| Summary | This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22055 | 80258 | EFHC2 | X | 44318839 | 44318839 | Asymptomatic | HiSeq X Ten |
| 22118 | 80258 | EFHC2 | X | 44338783 | 44338783 | Asymptomatic | HiSeq X Ten |
| 22138 | 80258 | EFHC2 | X | 44329566 | 44329566 | Asymptomatic | HiSeq X Ten |
| 22290 | 80258 | EFHC2 | X | 44278854 | 44278854 | Cockayne syndrome | HiSeq X Ten |
| 22319 | 80258 | EFHC2 | X | 44374290 | 44374290 | Cockayne syndrome | HiSeq X Ten |
| 24236 | 80258 | EFHC2 | X | 44274308 | 44274308 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28802 | 80258 | EFHC2 | X | 44331849 | 44331849 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |