LP64762-5
KCNQ2 gene
Active
Description
The KCNQ2 gene (potassium channel, voltage gated KQT-like subfamily Q, member 2) [HGNC Gene ID:6296] is located on chromosome 20q13.3. 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] [NCBI Gene ID:3785] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- KCNQ2 gene
- Part Display Name
- KCNQ2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-08-09
- Construct for LOINC Short Name
- KCNQ2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | KCNQ2 基因 Synonyms: BFNC; |
| et-EE | Estonian (Estonia) | KCNQ2 geen |
| es-ES | Spanish (Spain) | Gen KCNQ2 |
| it-IT | Italian (Italy) | KCNQ2, gene Synonyms: Gene KCNQ2 |
| tr-TR | Turkish (Turkey) | KCNQ2 geni |
| ru-RU | Russian (Russian Federation) | KCNQ2 ген |
| nl-NL | Dutch (Netherlands) | KCNQ2-gen Synonyms: KCNQ2 gen |
| fr-FR | French (France) | KCNQ2 gène |
| pl-PL | Polish (Poland) | KCNQ2 gen Synonyms: Gen KCNQ2 |
| el-GR | Greek (Greece) | Γονίδιο KCNQ2 Synonyms: Γονίδιο KCNQ2 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://