| Entrez Gene ID | 5153 |
|---|---|
| Official Gene Symbol | PDE1B (GeneCards) |
| Full name | phosphodiesterase 1B |
| Location | 12q13.2 |
| Other ids | Vega : OTTHUMG00000169844 MIM : 171891 HGNC : HGNC:8775 Ensembl : ENSG00000123360 |
| Other names | PDE1B1, PDES1B, HEL-S-79p |
| Summary | The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 935 | 5153 | PDE1B | 12 | 54969841 | 54969841 | Human Skin Fibroblasts | HiSeq 2500 |
| 16139 | 5153 | PDE1B | 12 | 54955183 | 54955183 | Asymptomatic | HiSeq 2500 HiSeq 2000 |
| 16945 | 5153 | PDE1B | 12 | 54951562 | 54951562 | Cockayne syndrome | HiSeq 2500 HiSeq 2000 HiSeq X Ten |