KCNQ2 - potassium voltage-gated channel subfamily Q member 2 Gene
Also Known as EBN; BFNC; DEE7; EBN1; ENB1; HNSPC; KV7.2; KCNA11
Species: Homo sapiens
About KCNQ2
This gene has 47 transcripts (splice variants), 1 gene allele, 250 orthologues, 31 paralogues and is associated with 10 phenotypes. Biased expression in brain (RPKM 15.5), adrenal (RPKM 2.3) and 1 other tissue.
Summary
The M channel is a slowly activating and deactivating Potassium Channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KCNQ2 Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001382235.1 | NP_001369164.1 | potassium voltage-gated channel subfamily KQT member 2 isoform f |
| NM_004518.6 | NP_004509.2 | potassium voltage-gated channel subfamily KQT member 2 isoform c |
| NM_172106.3 | NP_742104.1 | potassium voltage-gated channel subfamily KQT member 2 isoform b |
| NM_172107.4 | NP_742105.1 | potassium voltage-gated channel subfamily KQT member 2 isoform a |
| NM_172108.5 | NP_742106.1 | potassium voltage-gated channel subfamily KQT member 2 isoform d |
| NM_172109.3 | NP_742107.1 | potassium voltage-gated channel subfamily KQT member 2 isoform e |
| Molecular Function GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| enables ankyrin binding |
IPI
IPI: Inferred from physical interaction
|
16525039 | GOA |
| enables calmodulin binding |
IDA
IDA: Inferred from direct assay
|
27564677 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
27564677 | GOA |
| enables voltage-gated monoatomic cation channel activity |
IDA
IDA: Inferred from direct assay
|
28793216 | GOA |
| enables voltage-gated potassium channel activity |
IDA
IDA: Inferred from direct assay
|
9836639 | GOA |
| Biological Process GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| involved in potassium ion transmembrane transport |
IDA
IDA: Inferred from direct assay
|
9836639 | GOA |
| Cellular Component GO Annotation | Evidence | Referencias | Source |
|---|---|---|---|
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
9836639 | GOA |
| part of voltage-gated potassium channel complex |
IDA
IDA: Inferred from direct assay
|
9836639 | GOA |
KCNQ2 Protein Structure
Ion_trans: Ion transport protein (128 - 311)
KCNQ_channel: KCNQ voltage-gated potassium channel (464 - 663)
KCNQC3-Ank-G_bd: Ankyrin-G binding motif of KCNQ2-3 (767 - 869)
- 0
- 200
- 400
- 600
- 800
- 872 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
potassium voltage-gated channel subfamily KQT member 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Developmental And Epileptic Encephalopathy 7 |
|
|
| Seizures, Benign Familial Neonatal, 1 |
|
|
| Kcnq2-Related Disorders |
|
|
| Developmental And Epileptic Encephalopathy 1 |
|
|
| Kcnq3-Related Disorders |
|
|
| Seizures, Benign Familial Neonatal, 2 |
|
|
| Developmental And Epileptic Encephalopathy |
|
|
| Seizures, Benign Familial Infantile, 3 |
|
|
| Benign Familial Neonatal Epilepsy |
|
|
| West Syndrome |
|
|
| Benign Familial Infantile Epilepsy |
|
|
| Developmental And Epileptic Encephalopathy 14 |
|
|
| Ohtahara Syndrome |
|
|
| Early Infantile Epileptic Encephalopathy |
|
|
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
| Benign Neonatal Seizures |
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Epicanthus |
|
|
| Epilepsy, Idiopathic Generalized |
|
|
| Epilepsy |
|
|
| Status Epilepticus |
|
|
| Neuroblastoma |
|
|
| Infancy Electroclinical Syndrome |
|
|
| Epilepsy, Pyridoxine-Dependent |
|
|
| Childhood Electroclinical Syndrome |
|
|
| Landau-Kleffner Syndrome |
|
|
| Long Qt Syndrome |
|
|
| Combined Oxidative Phosphorylation Deficiency 13 |
|
|
| Episodic Ataxia, Type 1 |
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
|
| Partial Motor Epilepsy |
|
|
| Developmental And Epileptic Encephalopathy 21 |
|
|
| Lennox-Gastaut Syndrome |
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
|
| Dravet Syndrome |
|
|
| Episodic Ataxia |
|
|
| Schuurs-Hoeijmakers Syndrome |
|
|
| Early Onset Absence Epilepsy |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Congenital Disorder Of Glycosylation, Type Iim |
|
|
| Combined Oxidative Phosphorylation Deficiency 1 |
|
|
| Photosensitive Epilepsy |
|
|
| Adolescence-Adult Electroclinical Syndrome |
|
|
| Focal Epilepsy |
|
|
| Developmental And Epileptic Encephalopathy 9 |
|
|
| Epilepsy With Generalized Tonic-Clonic Seizures |
|
|
| Epilepsy, Myoclonic Juvenile |
|
|
| Childhood Absence Epilepsy |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Episodic Kinesigenic Dyskinesia 1 |
|
|
| Long Qt Syndrome 1 |
|
|
| Erythromelalgia |
|
|
| Glycine Encephalopathy |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Familial Atrial Fibrillation |
|
|
| Brugada Syndrome |
|
|
| Nervous System Disease |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | KCNQ2 | RGD | RGD:621504 |
| Macaca mulatta | KCNQ2 | VGNC | VGNC:74005 |
| Mus musculus | KCNQ2 | MGD | MGI:1309503 |
| Bos taurus | KCNQ2 | VGNC | VGNC:30487 |
| Canis familiaris | KCNQ2 | VGNC | VGNC:42288 |
| Felis catus | KCNQ2 | VGNC | VGNC:67929 |
| Others | KCNQ2 | NCBI |