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

    Gene ID: 3752, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:6239
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KCND3 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111770662..111989668, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111785561..112004582, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (112313284..112532290, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1508 Neighboring gene inka box actin regulator 2 Neighboring gene INKA2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112298273-112299157 Neighboring gene DEAD-box helicase 20 Neighboring gene uncharacterized LOC124904312 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:112397726-112398319 Neighboring gene MPRA-validated peak363 silencer Neighboring gene KCND3 intronic transcript 1 Neighboring gene MPRA-validated peak364 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:112441183-112441402 Neighboring gene KCND3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:112480069-112480569 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 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
    Brugada syndrome 9
    MedGen: C4225340 OMIM: 616399 GeneReviews: Brugada Syndrome
    not available
    Hereditary ataxia
    MedGen: C0004138 GeneReviews: Hereditary Ataxia Overview
    not available
    Spinocerebellar ataxia type 19/22
    MedGen: C1846367 OMIM: 607346 GeneReviews: Hereditary Ataxia Overview
    not available

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC142035, MGC142037

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chemical synaptic transmission NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in membrane repolarization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane repolarization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in membrane repolarization during cardiac muscle cell action potential TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in membrane repolarization during ventricular cardiac muscle cell action potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in potassium ion export across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion export across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in potassium ion export across plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein tetramerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of heart contraction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of heart rate by cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular cardiac muscle cell membrane repolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    part_of Kv4.3-KChIP1 channel complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in postsynaptic membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcolemma 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
    A-type voltage-gated potassium channel KCND3
    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)

    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_032011.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001378969.1NP_001365898.1  A-type voltage-gated potassium channel KCND3 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL049557, AL450997, AL512665
      Consensus CDS
      CCDS843.1
      UniProtKB/Swiss-Prot
      O60576, O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16, Q9UK17
      UniProtKB/TrEMBL
      B7ZKV0
      Related
      ENSP00000306923.4, ENST00000302127.5
      Conserved Domains (3) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    2. NM_001378970.1NP_001365899.1  A-type voltage-gated potassium channel KCND3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL049557, AL450997, AL512665
      Consensus CDS
      CCDS844.1
      UniProtKB/TrEMBL
      B7ZKV0
      Related
      ENSP00000358711.1, ENST00000369697.5
      Conserved Domains (3) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam11879
      Location:442544
      DUF3399; Domain of unknown function (DUF3399)
    3. NM_004980.5NP_004971.2  A-type voltage-gated potassium channel KCND3 isoform 1

      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)
      AL049557, AL450997, AL512665
      Consensus CDS
      CCDS843.1
      UniProtKB/Swiss-Prot
      O60576, O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16, Q9UK17
      UniProtKB/TrEMBL
      B7ZKV0
      Related
      ENSP00000319591.2, ENST00000315987.6
      Conserved Domains (3) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    4. NM_172198.3NP_751948.1  A-type voltage-gated potassium channel KCND3 isoform 2

      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)
      AL049557, AL450997, AL512665
      Consensus CDS
      CCDS844.1
      UniProtKB/TrEMBL
      B7ZKV0
      Conserved Domains (3) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam11879
      Location:442544
      DUF3399; Domain of unknown function (DUF3399)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      111770662..111989668 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006710629.5XP_006710692.1  A-type voltage-gated potassium channel KCND3 isoform X1

      See identical proteins and their annotated locations for XP_006710692.1

      UniProtKB/Swiss-Prot
      O60576, O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16, Q9UK17
      UniProtKB/TrEMBL
      B7ZKV0
      Conserved Domains (3) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    2. XM_017001244.3XP_016856733.1  A-type voltage-gated potassium channel KCND3 isoform X1

      UniProtKB/Swiss-Prot
      O60576, O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16, Q9UK17
      UniProtKB/TrEMBL
      B7ZKV0
      Conserved Domains (3) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186412
      Ion_trans; Ion transport protein
      pfam11879
      Location:442563
      DUF3399; Domain of unknown function (DUF3399)
    3. XM_011541427.4XP_011539729.1  A-type voltage-gated potassium channel KCND3 isoform X5

      See identical proteins and their annotated locations for XP_011539729.1

      Conserved Domains (2) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186369
      Ion_trans; Ion transport protein
    4. XM_006710632.4XP_006710695.1  A-type voltage-gated potassium channel KCND3 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
    5. XM_011541428.3XP_011539730.1  A-type voltage-gated potassium channel KCND3 isoform X6

      See identical proteins and their annotated locations for XP_011539730.1

      Conserved Domains (2) summary
      cd18419
      Location:6143
      BTB_POZ_KCND3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily D member 3 (KCND3)
      pfam00520
      Location:186369
      Ion_trans; Ion transport protein
    6. XM_011541426.3XP_011539728.1  A-type voltage-gated potassium channel KCND3 isoform X3

      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
    7. XM_011541425.4XP_011539727.1  A-type voltage-gated potassium channel KCND3 isoform X2

      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_017001245.3XP_016856734.1  A-type voltage-gated potassium channel KCND3 isoform X2

      Related
      ENST00000703643.1
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      111785561..112004582 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336461.1XP_054192436.1  A-type voltage-gated potassium channel KCND3 isoform X1

      UniProtKB/Swiss-Prot
      O60576, O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16, Q9UK17
    2. XM_054336462.1XP_054192437.1  A-type voltage-gated potassium channel KCND3 isoform X1

      UniProtKB/Swiss-Prot
      O60576, O60577, Q14D71, Q5T0M0, Q9UH85, Q9UH86, Q9UK16, Q9UK17
    3. XM_054336467.1XP_054192442.1  A-type voltage-gated potassium channel KCND3 isoform X5

    4. XM_054336466.1XP_054192441.1  A-type voltage-gated potassium channel KCND3 isoform X4

    5. XM_054336468.1XP_054192443.1  A-type voltage-gated potassium channel KCND3 isoform X6

    6. XM_054336465.1XP_054192440.1  A-type voltage-gated potassium channel KCND3 isoform X3

    7. XM_054336463.1XP_054192438.1  A-type voltage-gated potassium channel KCND3 isoform X2

    8. XM_054336464.1XP_054192439.1  A-type voltage-gated potassium channel KCND3 isoform X2