| Entrez Gene ID | 56479 |
|---|---|
| Official Gene Symbol | KCNQ5 (GeneCards) |
| Full name | potassium voltage-gated channel subfamily Q member 5 |
| Location | 6q13 |
| Other ids | Vega : OTTHUMG00000015020 MIM : 607357 HGNC : HGNC:6299 Ensembl : ENSG00000185760 |
| Other names | Kv7.5, MRD46 |
| Summary | This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 8903 | 56479 | KCNQ5 | 6 | 73481703 | 73481703 | Asymptomatic | HiSeq X Ten |
| 9077 | 56479 | KCNQ5 | 6 | 73641012 | 73641012 | Asymptomatic | HiSeq X Ten |
| 9589 | 56479 | KCNQ5 | 6 | 73510384 | 73510384 | Asymptomatic | HiSeq X Ten |
| 9803 | 56479 | KCNQ5 | 6 | 73746897 | 73746897 | Asymptomatic | HiSeq X Ten |
| 9944 | 56479 | KCNQ5 | 6 | 73577054 | 73577054 | Asymptomatic | HiSeq X Ten |
| 9999 | 56479 | KCNQ5 | 6 | 73641318 | 73641318 | Asymptomatic | HiSeq X Ten |
| 10131 | 56479 | KCNQ5 | 6 | 73652413 | 73652413 | Cockayne syndrome | HiSeq X Ten |