| Entrez Gene ID | 27445 |
|---|---|
| Official Gene Symbol | PCLO (GeneCards) |
| Full name | piccolo presynaptic cytomatrix protein |
| Location | 7q21.11 |
| Other ids | Vega : OTTHUMG00000154853 MIM : 604918 HGNC : HGNC:13406 Ensembl : ENSG00000186472 |
| Other names | ACZ, PCH3 |
| Summary | The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
Found 8 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 824 | 27445 | PCLO | 7 | 82764309 | 82764309 | Human Skin Fibroblasts | HiSeq 2500 |
| 10729 | 27445 | PCLO | 7 | 82499016 | 82499016 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 10824 | 27445 | PCLO | 7 | 82473800 | 82473800 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 11110 | 27445 | PCLO | 7 | 82693172 | 82693172 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 11144 | 27445 | PCLO | 7 | 82781986 | 82781986 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 11172 | 27445 | PCLO | 7 | 82661843 | 82661843 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 11232 | 27445 | PCLO | 7 | 82611586 | 82611586 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 11290 | 27445 | PCLO | 7 | 82695159 | 82695159 | Asymptomatic | HiSeq 2500 HiSeq X Ten |