Entrez Gene ID | 5137 |
---|---|
Official Gene Symbol | PDE1C (GeneCards) |
Full name | phosphodiesterase 1C |
Location | 7p14.3 |
Other ids | Vega : OTTHUMG00000023836 MIM : 602987 HGNC : HGNC:8776 Ensembl : ENSG00000154678 |
Other names | Hcam3, hCam-3, cam-PDE1C |
Summary | This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016] |
Found 11 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
10384 | 5137 | PDE1C | 7 | 31854231 | 31854231 | Asymptomatic | HiSeq X Ten |
10541 | 5137 | PDE1C | 7 | 32150829 | 32150829 | Asymptomatic | HiSeq X Ten |
10789 | 5137 | PDE1C | 7 | 32128858 | 32128858 | Asymptomatic | HiSeq X Ten |
10808 | 5137 | PDE1C | 7 | 31844110 | 31844110 | Asymptomatic | HiSeq X Ten |
10892 | 5137 | PDE1C | 7 | 31960749 | 31960749 | Asymptomatic | HiSeq X Ten |
10953 | 5137 | PDE1C | 7 | 32105166 | 32105166 | Asymptomatic | HiSeq X Ten |
11167 | 5137 | PDE1C | 7 | 32009638 | 32009638 | Asymptomatic | HiSeq X Ten |
11322 | 5137 | PDE1C | 7 | 31877240 | 31877240 | Asymptomatic | HiSeq X Ten |
11392 | 5137 | PDE1C | 7 | 32066033 | 32066033 | Cockayne syndrome | HiSeq X Ten |
11443 | 5137 | PDE1C | 7 | 32042899 | 32042899 | Cockayne syndrome | HiSeq X Ten |
29801 | 5137 | PDE1C | 7 | 31855578 | 31855578 | Autism Spectrum Disorders | HiSeq X Ten NextSeq500 |