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    KCND3 potassium channel, voltage gated Shal related subfamily D, member 3 [ Homo sapiens (human) ]

    Gene ID: 3752, updated on 27-Jun-2015
    Official Symbol
    KCND3provided by HGNC
    Official Full Name
    potassium channel, voltage gated Shal related subfamily D, member 3provided by HGNC
    Primary source
    HGNC:HGNC:6239
    See related
    Ensembl:ENSG00000171385; HPRD:16104; MIM:605411; Vega:OTTHUMG00000011989
    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
    KV4.3; SCA19; SCA22; BRGDA9; KCND3L; KCND3S; KSHIVB
    Summary
    Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    See KCND3 in Epigenomics, MapViewer
    Location:
    1p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (111775822..111989576, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (112318444..112532147, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 212, member B Neighboring gene FAM212B antisense RNA 1 Neighboring gene uncharacterized LOC101928718 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 Neighboring gene uncharacterized LOC105378905 Neighboring gene KCND3 intronic transcript 1 Neighboring gene KCND3 antisense RNA 1 Neighboring gene uncharacterized LOC643355 Neighboring gene uncharacterized LOC105378906

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Brugada syndrome 9
    MedGen: CN231147 OMIM: 616399 GeneReviews: Not available
    not available
    Spinocerebellar ataxia 19
    MedGen: C1846367 OMIM: 607346 GeneReviews: Hereditary Ataxia Overview
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    NHGRI GWAS Catalog

    Description
    A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
    NHGRI GWA Catalog
    A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.
    NHGRI GWA Catalog
    Genetic determinants of P wave duration and PR segment.
    NHGRI GWA Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC142035, MGC142037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to A-type (transient outward) potassium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT delayed rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion export IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated potassium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    potassium voltage-gated channel subfamily D member 3
    Names
    potassium voltage-gated channel subfamily D member 3
    potassium ionic channel Kv4.3
    potassium voltage-gated channel long
    potassium voltage-gated channel, Shal-related subfamily, member 3
    sha1-related potassium channel Kv4.3
    voltage-gated K+ channel
    voltage-gated potassium channel subunit Kv4.3

    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_032011.2 RefSeqGene

      Range
      5001..218324
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_445

    mRNA and Protein(s)

    1. NM_004980.4NP_004971.2  potassium voltage-gated channel subfamily D member 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004971.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as the long splice variant, encodes the longer isoform (1).
      Source sequence(s)
      AF048713, AF120491, AF205857, BC113477
      Consensus CDS
      CCDS843.1
      UniProtKB/Swiss-Prot
      Q9UK17
      Related
      ENSP00000319591, OTTHUMP00000013771, ENST00000315987, OTTHUMT00000033144
      Conserved Domains (6) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228402
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam07885
      Location:328403
      Ion_trans_2; Ion channel
      pfam11879
      Location:442564
      DUF3399; Domain of unknown function (DUF3399)
      pfam15279
      Location:519655
      SOBP; Sine oculis-binding protein
    2. NM_172198.2NP_751948.1  potassium voltage-gated channel subfamily D member 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_751948.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as the shorter splice variant, lacks an in-frame exon in the 3' coding region, as compared to variant 1. It thus encodes an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AF120491, BC113475
      Consensus CDS
      CCDS844.1
      UniProtKB/TrEMBL
      A0A024R0C6
      UniProtKB/Swiss-Prot
      Q9UK17
      Related
      ENSP00000306923, ENST00000302127
      Conserved Domains (6) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228402
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam07885
      Location:328403
      Ion_trans_2; Ion channel
      pfam11879
      Location:442545
      DUF3399; Domain of unknown function (DUF3399)
      pfam15279
      Location:500636
      SOBP; Sine oculis-binding protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      111775822..111989576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710630.2XP_006710693.1  

      See identical proteins and their annotated locations for XP_006710693.1

      UniProtKB/TrEMBL
      A0A024R0C6
      UniProtKB/Swiss-Prot
      Q9UK17
      Conserved Domains (6) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228402
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam07885
      Location:328403
      Ion_trans_2; Ion channel
      pfam11879
      Location:442545
      DUF3399; Domain of unknown function (DUF3399)
      pfam15279
      Location:500636
      SOBP; Sine oculis-binding protein
    2. XM_005270851.3XP_005270908.1  

      See identical proteins and their annotated locations for XP_005270908.1

      UniProtKB/Swiss-Prot
      Q9UK17
      Conserved Domains (6) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228402
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam07885
      Location:328403
      Ion_trans_2; Ion channel
      pfam11879
      Location:442564
      DUF3399; Domain of unknown function (DUF3399)
      pfam15279
      Location:519655
      SOBP; Sine oculis-binding protein
    3. XM_006710629.2XP_006710692.1  

      See identical proteins and their annotated locations for XP_006710692.1

      UniProtKB/Swiss-Prot
      Q9UK17
      Conserved Domains (6) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228402
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam07885
      Location:328403
      Ion_trans_2; Ion channel
      pfam11879
      Location:442564
      DUF3399; Domain of unknown function (DUF3399)
      pfam15279
      Location:519655
      SOBP; Sine oculis-binding protein
    4. XM_006710631.2XP_006710694.1  

      Conserved Domains (5) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228402
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam07885
      Location:328403
      Ion_trans_2; Ion channel
      pfam11879
      Location:442487
      DUF3399; Domain of unknown function (DUF3399)
    5. XM_011541427.1XP_011539729.1  

      See identical proteins and their annotated locations for XP_011539729.1

      Conserved Domains (3) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
    6. XM_006710632.2XP_006710695.1  

      Conserved Domains (3) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228375
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
    7. XM_011541428.1XP_011539730.1  

      See identical proteins and their annotated locations for XP_011539730.1

      Conserved Domains (3) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
    8. XM_011541426.1XP_011539728.1  

      Conserved Domains (3) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
    9. XM_011541425.1XP_011539727.1  

      Conserved Domains (3) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam00520
      Location:228369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      112433439..112646758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)