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

Gene ID: 3786, updated on 4-Jan-2025

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; AllianceGenome:HGNC:6297
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
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Genomic context

See KCNQ3 in Genome Data Viewer
Location:
8q24.22
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132120861..132481095, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133243767..133604173, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133133108..133493342, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:133036851-133038050 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:133057119-133057670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:133066195-133066695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:133070122-133070699 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:133070700-133071276 Neighboring gene otoconin 90 Neighboring gene Sharpr-MPRA regulatory region 9765 Neighboring gene Sharpr-MPRA regulatory region 9796 Neighboring gene HHLA1 neighbor of OC90 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133141080-133141580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133141581-133142081 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:133358485-133359684 Neighboring gene NANOG hESC enhancer GRCh37_chr8:133405895-133406396 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:133406347-133406528 Neighboring gene VISTA enhancer hs2563 Neighboring gene uncharacterized LOC105375765 Neighboring gene uncharacterized LOC124902028

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ37386, FLJ38392, DKFZp686C0248

Gene Ontology Provided by GOA

Items 1 - 25 of 27
Process Evidence Code Pubs
involved_in action potential initiation  
involved_in apoptosome assembly  
involved_in cellular response to calcium ion  
involved_in cellular response to xenobiotic stimulus  
involved_in chemical synaptic transmission PubMed 
involved_in endocytosis  
involved_in excitatory chemical synaptic transmission  
involved_in exocytosis  
involved_in gene expression  
involved_in inhibitory chemical synaptic transmission  
involved_in membrane hyperpolarization  
involved_in mitochondrial depolarization  
involved_in nerve development  
involved_in neuron apoptotic process  
involved_in neuron remodeling  
involved_in neuronal action potential  
involved_in potassium ion transmembrane transport  
involved_in potassium ion transmembrane transport PubMed 
involved_in protein import into nucleus  
involved_in protein targeting  
involved_in psychomotor behavior  
involved_in regulation of action potential firing threshold  
involved_in regulation of synaptic plasticity  
involved_in response to auditory stimulus  
involved_in response to organic cyclic compound  
involved_in sensory perception of sound  
involved_in substantia propria of cornea development  
Items 1 - 25 of 27
Component Evidence Code Pubs
located_in axon initial segment PubMed 
located_in cell surface  
located_in mitochondrion  
located_in node of Ranvier PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in synapse  
part_of voltage-gated potassium channel complex  
part_of voltage-gated potassium channel complex 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)

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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_001204824.2NP_001191753.1  potassium voltage-gated channel subfamily KQT member 3 isoform 2

    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/TrEMBL
    A0A1W2PQ71
    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
    A2VCT8, B4DJY4, E7EQ89, 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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    132120861..132481095 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421769.1XP_047277725.1  potassium voltage-gated channel subfamily KQT member 3 isoform X3

    UniProtKB/TrEMBL
    E7ET42
    Related
    ENSP00000428790.1, ENST00000519445.5
  2. XM_011517026.3XP_011515328.1  potassium voltage-gated channel subfamily KQT member 3 isoform X2

    UniProtKB/TrEMBL
    A0A1W2PQ71
    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
  3. XM_017013400.2XP_016868889.1  potassium voltage-gated channel subfamily KQT member 3 isoform X1

    UniProtKB/TrEMBL
    A0A1W2PQ71
    Related
    ENSP00000491940.1, ENST00000638588.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    133243767..133604173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360446.1XP_054216421.1  potassium voltage-gated channel subfamily KQT member 3 isoform X3

    UniProtKB/TrEMBL
    E7ET42
  2. XM_054360445.1XP_054216420.1  potassium voltage-gated channel subfamily KQT member 3 isoform X2

    UniProtKB/TrEMBL
    A0A1W2PQ71
  3. XM_054360444.1XP_054216419.1  potassium voltage-gated channel subfamily KQT member 3 isoform X1

    UniProtKB/TrEMBL
    A0A1W2PQ71
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