Homo sapiens Gene: KCNQ3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-35895.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | KCNQ3 | ||||||||||||||||||||||
Gene Name | potassium voltage-gated channel, KQT-like subfamily, member 3 | ||||||||||||||||||||||
Synonyms | BFNC2; EBN2; KV7.3 | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000184156 | ||||||||||||||||||||||
Encoded Proteins |
potassium voltage-gated channel, KQT-like subfamily, member 3
potassium voltage-gated channel, KQT-like subfamily, member 3
potassium voltage-gated channel, KQT-like subfamily, member 3
potassium voltage-gated channel, KQT-like subfamily, member 3
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
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 one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, 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 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Two variants encoding distinct isoforms have been found. [provided by RefSeq, Mar 2011] 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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 8:132120859-132480953 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q24.22 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Voltage gated Potassium channels pathway
Interaction between L1 and Ankyrins pathway
L1CAM interactions pathway
Developmental Biology pathway
Neuronal System pathway
Axon guidance pathway
Potassium Channels pathway
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KEGG | |||||||||||||||||||||||
INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | E7ET42 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 3786 | ||||||||||||||||||||||
UniGene | Hs.374023 | ||||||||||||||||||||||
RefSeq | NM_001204824 NM_004519 XM_005250913 XM_006716554 XM_006716555 | ||||||||||||||||||||||
HUGO | HGNC:6297 | ||||||||||||||||||||||
OMIM | 602232 | ||||||||||||||||||||||
CCDS | CCDS34943 CCDS56554 | ||||||||||||||||||||||
HPRD | 09077 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC018540 AC123776 AC131042 AC136373 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 3786 | ||||||||||||||||||||||