| Entrez Gene ID | 8618 |
|---|---|
| Official Gene Symbol | CADPS (GeneCards) |
| Full name | calcium dependent secretion activator |
| Location | 3p14.2 |
| Other ids | Vega : OTTHUMG00000158651 MIM : 604667 HGNC : HGNC:1426 Ensembl : ENSG00000163618 |
| Other names | CAPS, CAPS1, CADPS1, UNC-31 |
| Summary | This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008] |
Found 12 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 4703 | 8618 | CADPS | 3 | 62715668 | 62715668 | Asymptomatic | HiSeq 2000 |
| 4755 | 8618 | CADPS | 3 | 62398790 | 62398790 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 4767 | 8618 | CADPS | 3 | 62525474 | 62525474 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 5451 | 8618 | CADPS | 3 | 62701666 | 62701666 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 5452 | 8618 | CADPS | 3 | 62712944 | 62712944 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 5538 | 8618 | CADPS | 3 | 62681672 | 62681672 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 5553 | 8618 | CADPS | 3 | 62842437 | 62842437 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 5566 | 8618 | CADPS | 3 | 62648419 | 62648419 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 5756 | 8618 | CADPS | 3 | 63005992 | 63005992 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 5842 | 8618 | CADPS | 3 | 62552713 | 62552713 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 25140 | 8618 | CADPS | 3 | 62952852 | 62952852 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25299 | 8618 | CADPS | 3 | 62875307 | 62875307 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |