| UniProt Protein Function: | Kv7.3: Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Defects in KCNQ3 are the cause of benign familial neonatal seizures type 2 (BFNS2). A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily. Protein type: Membrane protein, integral; Membrane protein, multi-pass; Channel, potassium Chromosomal Location of Human Ortholog: 8q24 Cellular Component: plasma membrane Molecular Function: delayed rectifier potassium channel activity; potassium channel activity; voltage-gated potassium channel activity Biological Process: potassium ion transport; synaptic transmission Disease: Seizures, Benign Familial Neonatal, 2 |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014] |
| UniProt Code: | O43525 |
| NCBI GenInfo Identifier: | 5921785 |
| NCBI Gene ID: | 3786 |
| NCBI Accession: | O43525.2 |
| UniProt Secondary Accession: | O43525,A2VCT8, B4DJY4, E7EQ89 |
| UniProt Related Accession: | O43525 |
| Molecular Weight: | 93,599 Da |
| NCBI Full Name: | Potassium voltage-gated channel subfamily KQT member 3 |
| NCBI Synonym Full Names: | potassium voltage-gated channel subfamily Q member 3 |
| NCBI Official Symbol: | KCNQ3 |
| NCBI Official Synonym Symbols: | EBN2; BFNC2; KV7.3 |
| NCBI Protein Information: | potassium voltage-gated channel subfamily KQT member 3 |
| UniProt Protein Name: | Potassium voltage-gated channel subfamily KQT member 3 |
| UniProt Synonym Protein Names: | KQT-like 3; Potassium channel subunit alpha KvLQT3; Voltage-gated potassium channel subunit Kv7.3 |
| Protein Family: | Potassium voltage-gated channel subfamily |
| UniProt Gene Name: | KCNQ3 |
| UniProt Entry Name: | KCNQ3_HUMAN |
