Version 5.4
Homo sapiens Gene: KCNQ2
Summary
InnateDB Gene IDBG-86058.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNQ2
Gene Name potassium voltage-gated channel, KQT-like subfamily, member 2
Synonyms BFNC; BFNS1; EBN; EBN1; EIEE7; ENB1; HNSPC; KCNA11; KV7.2; KVEBN1
Species Homo sapiens
Ensembl Gene ENSG00000075043
Encoded Proteins
IDBP-86064
potassium voltage-gated channel, KQT-like subfamily, member 2
IDBP-86068
potassium voltage-gated channel, KQT-like subfamily, member 2
IDBP-86070
potassium voltage-gated channel, KQT-like subfamily, member 2
IDBP-86074
potassium voltage-gated channel, KQT-like subfamily, member 2
IDBP-86076
potassium voltage-gated channel, KQT-like subfamily, member 2
IDBP-86082
potassium voltage-gated channel, KQT-like subfamily, member 2
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 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:63406039-63472638
Strand Reverse strand
Band q13.33
Transcripts
ENST00000360480 ENSP00000353668
ENST00000359125 ENSP00000352035
ENST00000357249 ENSP00000349789
ENST00000370224 ENSP00000359244
ENST00000344462 ENSP00000339611
ENST00000370221
ENST00000344425 ENSP00000345523
ENST00000482957
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [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
GO:0030506 ankyrin binding
Biological Process
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007268 synaptic transmission
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0019226 transmission of nerve impulse
GO:0034765 regulation of ion transmembrane transport
GO:0055085 transmembrane transport
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
ENSMUSG00000016346
View Gene Order
ENSBTAG00000003030
Not yet available
Pathways
NETPATH
REACTOME
REACT_75770
Voltage gated Potassium channels pathway
REACT_22266
Interaction between L1 and Ankyrins pathway
REACT_22205
L1CAM interactions pathway
REACT_111045
Developmental Biology pathway
REACT_13685
Neuronal System pathway
REACT_18266
Axon guidance pathway
REACT_75908
Potassium Channels pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.161851 Hs.740010
RefSeq NM_004518 NM_172106 NM_172107 NM_172108 NM_172109
HUGO
OMIM
CCDS CCDS13518 CCDS13519 CCDS13520 CCDS13521 CCDS46629
HPRD 03757
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca