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

Gene ID: 3786, updated on 10-Dec-2024

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: 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
Seizures, benign familial neonatal, 2
MedGen: C1852581 OMIM: 121201 GeneReviews: KCNQ3-Related Disorders
not available

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ37386, FLJ38392, DKFZp686C0248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calmodulin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables voltage-gated monoatomic cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables voltage-gated potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in action potential initiation IEA
Inferred from Electronic Annotation
more info
 
involved_in apoptosome assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in excitatory chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
involved_in exocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in inhibitory chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
involved_in membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
involved_in nerve development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron remodeling IEA
Inferred from Electronic Annotation
more info
 
involved_in neuronal action potential IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
involved_in protein targeting IEA
Inferred from Electronic Annotation
more info
 
involved_in psychomotor behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of action potential firing threshold IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
involved_in response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in substantia propria of cornea development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in axon initial segment ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in node of Ranvier ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
part_of voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of 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)

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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