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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
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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