DOC2A
double C2 domain alpha
Summary
There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs756118173 | 16:30,017,527 | C/T | — | uncertain significance |
| rs202062683 | 16:30,017,536 | G/C | — | benign |
| rs34246709 | 16:30,017,583 | G/A | — | benign |
| rs1413992319 | 16:30,017,607 | T/C | — | uncertain significance |
| rs745345298 | 16:30,017,614 | G/A | — | uncertain significance |
| rs141323522 | 16:30,017,620 | C/T | — | uncertain significance |
| rs141745734 | 16:30,017,942 | T/G | — | uncertain significance |
| rs201869632 | 16:30,017,985 | C/T | — | uncertain significance |
| rs200195038 | 16:30,018,190 | C/T | — | uncertain significance |
| rs758127824 | 16:30,018,191 | G/A | — | uncertain significance |
| rs1303061951 | 16:30,018,205 | C/G | — | uncertain significance |
| rs780797462 | 16:30,018,250 | C/T | — | uncertain significance |
| rs80308730 | 16:30,018,273 | C/T | — | benign |
| rs1238850129 | 16:30,018,374 | C/T | — | uncertain significance |
| rs761882236 | 16:30,018,404 | G/A | — | uncertain significance |
| rs367572265 | 16:30,018,613 | C/T | — | uncertain significance |
| rs2543411335 | 16:30,020,333 | T/C | — | uncertain significance |
| rs200874282 | 16:30,020,355 | G/T | — | uncertain significance |
| rs769699664 | 16:30,020,422 | T/C | — | uncertain significance |
| rs933220946 | 16:30,020,843 | C/G | — | uncertain significance |
| rs775662234 | 16:30,020,845 | T/A | — | uncertain significance |
| rs754124502 | 16:30,020,876 | C/T | — | uncertain significance |
| rs2543413700 | 16:30,021,393 | C/G | — | uncertain significance |
| rs199677332 | 16:30,021,396 | C/T | — | uncertain significance |
| rs1140239 | 16:30,021,402 | C/T | — | benign |
| rs201903058 | 16:30,021,408 | C/T | — | uncertain significance |
| rs200955492 | 16:30,021,413 | C/T | — | uncertain significance |
| rs547661048 | 16:30,021,522 | G/C | — | uncertain significance |
| rs1199858945 | 16:30,021,534 | G/A | — | uncertain significance |
| rs12325400 | 16:30,023,786 | C/G | upstream gene variant | — |
| rs56869323 | 16:30,025,509 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.