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

    Gene ID: 3786, updated on 3-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCNQ3 in Genome Data Viewer
    Location:
    8q24.22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132120861..132481095, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133243767..133604173, complement)
    105.20220307 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
    Compare labs

    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 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)

    NEW Try the new Transcript table

    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_2023_10

    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

    3. XM_054360444.1XP_054216419.1  potassium voltage-gated channel subfamily KQT member 3 isoform X1