Gene: KCNQ3 (potassium voltage-gated channel subfamily Q member 3) Homo sapiens
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Symbol: KCNQ3
Name: potassium voltage-gated channel subfamily Q member 3
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BFNC2; DKFZp686C0248; EBN2; FLJ37386; FLJ38392; KQT-like 3; KV7.3; OTTHUMP00000174705; OTTHUMP00000227140; OTTHUMP00000227141; potassium channel subunit alpha KvLQT3; potassium channel, voltage gated KQT-like subfamily Q, member 3; potassium channel, voltage-gated, subfamily Q, member 3; potassium voltage-gated channel subfamily KQT member 3; potassium voltage-gated channel, KQT-like subfamily, member 3; voltage-gated potassium channel subunit Kv7.3
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388132,120,858 - 132,480,757 (-)NCBIGRCh38hg38GRCh38
GRCh378133,133,105 - 133,493,004 (-)NCBIGRCh37hg19GRCh37
Build 368133,210,438 - 133,562,186 (-)NCBINCBI36hg18NCBI36
Build 348133,210,437 - 133,562,186NCBI
Celera8129,316,946 - 129,668,720 (-)NCBI
Cytogenetic Map8q24.22NCBImapview
HuRef8128,450,644 - 128,810,822 (-)NCBI
CHM1_18133,173,913 - 133,533,807 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on KCNQ3
NCBI Gene
Ensembl Gene
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HGNC Report
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RGD Object Information
RGD ID: 735595
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2017-03-14
Status: ACTIVE