Homo sapiens Gene: KCNQ3
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
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:132120859-132480953
Strand Reverse strand
Band q24.22
Transcripts
ENST00000388996 ENSP00000373648
ENST00000521134 ENSP00000429799
ENST00000519445 ENSP00000428790
ENST00000519589
ENST00000621976 ENSP00000482510
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.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
Biological Process
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007268 synaptic transmission
GO:0007411 axon guidance
GO:0034765 regulation of ion transmembrane transport
GO:0055085 transmembrane transport
GO:0060081 membrane hyperpolarization
GO:0071805 potassium ion transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0033268 node of Ranvier
GO:0043194 axon initial segment
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
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
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