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

Gene ID: 3752, updated on 17-Dec-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
109.20191205 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 Functions

What'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 PubChem

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 Updated Annotation Release 109.20191205

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 (2) summary
    pfam00520
    Location:182369
    Ion_trans; Ion transport protein
    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)
  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 (2) summary
    pfam00520
    Location:182369
    Ion_trans; Ion transport protein
    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)
  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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