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
potassium voltage-gated channel, KQT-like subfamily, member 2
potassium voltage-gated channel, KQT-like subfamily, member 2
potassium voltage-gated channel, KQT-like subfamily, member 2
potassium voltage-gated channel, KQT-like subfamily, member 2
potassium voltage-gated channel, KQT-like subfamily, member 2
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Developmental Biology pathway
Interaction between L1 and Ankyrins pathway
Neuronal System pathway
Axon guidance pathway
Voltage gated Potassium channels pathway
Potassium Channels pathway
L1CAM interactions pathway
KEGG
INOH
PID BIOCARTA
Ion channels and their functional role in vascular endothelium [Biocarta view]
PID NCI
Cross-References
SwissProt O43526
TrEMBL
UniProt Splice Variant
Entrez Gene 3785
UniGene Hs.161851 Hs.740010
RefSeq NM_172106 NM_004518 NM_172107 NM_172108 NM_172109
HUGO HGNC:6296
OMIM 602235
CCDS CCDS13519 CCDS13518 CCDS13520 CCDS13521 CCDS46629
HPRD 03757
IMGT
EMBL AF033348 AF074247 AF110020 AL121827 AL121829 AL353658 BC000699 D82346 Y15065
GenPept AAB97315 AAC25921 AAD16988 AAH00699 BAA11557 CAA75348 CAH72958 CAH72959 CAI95054 CAI95740 CAI95744
RNA Seq Atlas 3785