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KCNQ3 potassium voltage-gated channel subfamily Q member 3 [ Homo sapiens (human) ]

Gene ID: 3786, updated on 3-May-2020

Summary

Official Symbol
KCNQ3provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily Q member 3provided by HGNC
Primary source
HGNC:HGNC:6297
See related
Ensembl:ENSG00000184156 MIM:602232
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EBN2; BFNC2; KV7.3
Summary
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]
Expression
Biased expression in brain (RPKM 5.1) and adrenal (RPKM 0.4) See more
Orthologs

Genomic context

See KCNQ3 in Genome Data Viewer
Location:
8q24.22
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (132120858..132481095, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133133105..133493004, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene otoconin 90 Neighboring gene HERV-H LTR-associating 1 Neighboring gene uncharacterized LOC107986977 Neighboring gene VISTA enhancer hs2563 Neighboring gene uncharacterized LOC105375765 Neighboring gene Helicobacter pylori responsive 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Benign familial neonatal seizures 2
MedGen: C1852581 OMIM: 121201 GeneReviews: KCNQ3-Related Disorders
Compare labs

NHGRI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37386, FLJ38392, DKFZp686C0248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon initial segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cell surface IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
node of Ranvier ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily KQT member 3
Names
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, KQT-like subfamily, member 3
voltage-gated potassium channel subunit Kv7.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008854.2 RefSeqGene

    Range
    4663..364897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204824.1NP_001191753.1  potassium voltage-gated channel subfamily KQT member 3 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC131042, AF033347, AK296293, BX538233
    Consensus CDS
    CCDS56554.1
    UniProtKB/Swiss-Prot
    O43525
    Related
    ENSP00000429799.1, ENST00000521134.6
    Conserved Domains (4) summary
    pfam00520
    Location:19243
    Ion_trans; Ion transport protein
    pfam03520
    Location:332536
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:149233
    Ion_trans_2; Ion channel
    pfam11956
    Location:660746
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  2. NM_004519.4NP_004510.1  potassium voltage-gated channel subfamily KQT member 3 isoform 1

    See identical proteins and their annotated locations for NP_004510.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). The 5' extent of this variant is inferred based on orthologous alignments.
    Source sequence(s)
    AC018540, AC131042, AF033347, AV728013, BX538233
    Consensus CDS
    CCDS34943.1
    UniProtKB/Swiss-Prot
    O43525
    Related
    ENSP00000373648.3, ENST00000388996.10
    Conserved Domains (4) summary
    pfam00520
    Location:139363
    Ion_trans; Ion transport protein
    pfam03520
    Location:452656
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:269353
    Ion_trans_2; Ion channel
    pfam11956
    Location:780866
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    132120858..132481095 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517026.2XP_011515328.1  potassium voltage-gated channel subfamily KQT member 3 isoform X2

    Conserved Domains (4) summary
    pfam00520
    Location:19243
    Ion_trans; Ion transport protein
    pfam03520
    Location:332536
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:149233
    Ion_trans_2; Ion channel
    pfam11956
    Location:660746
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  2. XM_017013400.1XP_016868889.1  potassium voltage-gated channel subfamily KQT member 3 isoform X1

    Related
    ENSP00000491940.1, ENST00000638588.1
  3. XM_006716555.3XP_006716618.1  potassium voltage-gated channel subfamily KQT member 3 isoform X3

    Conserved Domains (4) summary
    pfam00520
    Location:1127
    Ion_trans; Ion transport protein
    pfam03520
    Location:216420
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam07885
    Location:33117
    Ion_trans_2; Ion channel
    pfam11956
    Location:544630
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
  4. XM_005250914.3XP_005250971.1  potassium voltage-gated channel subfamily KQT member 3 isoform X4

    Conserved Domains (2) summary
    pfam03520
    Location:37241
    KCNQ_channel; KCNQ voltage-gated potassium channel
    pfam11956
    Location:365451
    KCNQC3-Ank-G_bd; Ankyrin-G binding motif of KCNQ2-3
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