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

    Gene ID: 3752, updated on 17-Jun-2019

    Summary

    Official Symbol
    KCND3provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily D member 3provided by HGNC
    Primary source
    HGNC:HGNC:6239
    See related
    Ensembl:ENSG00000171385 MIM:605411
    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]
    Expression
    Broad expression in brain (RPKM 4.9), prostate (RPKM 2.7) and 17 other tissues See more
    Orthologs

    Genomic context

    See KCND3 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (111770662..111989577, 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 uncharacterized LOC101928718 Neighboring gene inka box actin regulator 2 Neighboring gene INKA2 antisense RNA 1 Neighboring gene DEAD-box helicase 20 Neighboring gene KCND3 intronic transcript 1 Neighboring gene KCND3 antisense RNA 1 Neighboring gene uncharacterized LOC105378906 Neighboring gene long intergenic non-protein coding RNA 1750

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Brugada syndrome 9
    MedGen: C4225340 OMIM: 616399 GeneReviews: Brugada Syndrome
    Compare labs
    Spinocerebellar ataxia 19
    MedGen: C1846367 OMIM: 607346 GeneReviews: Hereditary Ataxia Overview
    Compare labs

    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

    Pathways from BioSystems

    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Phase 1 - inactivation of fast Na+ channels, organism-specific biosystem (from REACTOME)
      Phase 1 - inactivation of fast Na+ channels, organism-specific biosystemPhase 1 of the cardiac action potential is the inactivation of the fast Na+ channels. The transient net outward current causing the small downward deflection (the "notch" of the action potetial) is d...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
      Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC142035, MGC142037

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cardiac conduction TAS
    Traceable Author Statement
    more info
     
    membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane repolarization during cardiac muscle cell action potential TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane repolarization during ventricular cardiac muscle cell action potential IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion export across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    potassium ion export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    potassium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    sarcolemma 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 D member 3
    Names
    potassium channel, voltage gated Shal related 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

    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_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
      ENSP00000319591.2, ENST00000315987.6
      Conserved Domains (4) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels, N-terminal
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    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/Swiss-Prot
      Q9UK17
      UniProtKB/TrEMBL
      A0A024R0C6
      Related
      ENSP00000306923.3, ENST00000302127.4
      Conserved Domains (4) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels, N-terminal
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11879
      Location:442544
      DUF3399; Domain of unknown function (DUF3399)

    RefSeqs of Annotated Genomes: Homo sapiens 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_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      111770662..111989577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710630.3XP_006710693.1  potassium voltage-gated channel subfamily D member 3 isoform X2

      See identical proteins and their annotated locations for XP_006710693.1

      UniProtKB/Swiss-Prot
      Q9UK17
      UniProtKB/TrEMBL
      A0A024R0C6
      Related
      ENSP00000358711.1, ENST00000369697.5
      Conserved Domains (4) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels, N-terminal
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11879
      Location:442544
      DUF3399; Domain of unknown function (DUF3399)
    2. XM_005270851.4XP_005270908.1  potassium voltage-gated channel subfamily D member 3 isoform X1

      See identical proteins and their annotated locations for XP_005270908.1

      UniProtKB/Swiss-Prot
      Q9UK17
      Conserved Domains (4) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels, N-terminal
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    3. XM_017001244.2XP_016856733.1  potassium voltage-gated channel subfamily D member 3 isoform X1

      UniProtKB/Swiss-Prot
      Q9UK17
      Conserved Domains (4) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels, N-terminal
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    4. XM_006710629.4XP_006710692.1  potassium voltage-gated channel subfamily D member 3 isoform X1

      See identical proteins and their annotated locations for XP_006710692.1

      UniProtKB/Swiss-Prot
      Q9UK17
      Conserved Domains (4) summary
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels, N-terminal
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    5. XM_006710631.3XP_006710694.1  potassium voltage-gated channel subfamily D member 3 isoform X3

      Conserved Domains (6) summary
      smart00225
      Location:42139
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00520
      Location:217412
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam07885
      Location:328408
      Ion_trans_2; Ion channel
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
      pfam11879
      Location:442487
      DUF3399; Domain of unknown function (DUF3399)
    6. XM_011541427.3XP_011539729.1  potassium voltage-gated channel subfamily D member 3 isoform X7

      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, N-terminal
      pfam00520
      Location:186369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
    7. XM_006710632.3XP_006710695.1  potassium voltage-gated channel subfamily D member 3 isoform X6

      Conserved Domains (4) summary
      smart00225
      Location:42139
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00520
      Location:217369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
    8. XM_011541428.2XP_011539730.1  potassium voltage-gated channel subfamily D member 3 isoform X8

      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, N-terminal
      pfam00520
      Location:186369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
    9. XM_011541426.2XP_011539728.1  potassium voltage-gated channel subfamily D member 3 isoform X5

      Conserved Domains (4) summary
      smart00225
      Location:42139
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00520
      Location:217369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
    10. XM_011541425.3XP_011539727.1  potassium voltage-gated channel subfamily D member 3 isoform X4

      Conserved Domains (4) summary
      smart00225
      Location:42139
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00520
      Location:217369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
    11. XM_017001245.2XP_016856734.1  potassium voltage-gated channel subfamily D member 3 isoform X4

      Conserved Domains (4) summary
      smart00225
      Location:42139
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00520
      Location:217369
      Ion_trans; Ion transport protein
      pfam02214
      Location:42131
      BTB_2; BTB/POZ domain
      pfam11601
      Location:328
      Shal-type; Shal-type voltage-gated potassium channels
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