KCND3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
KCND3
Protein KCND3 PDB 1s1g.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KCND3, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22, BRGDA9, potassium voltage-gated channel subfamily D member 3
External IDs MGI: 1928743 HomoloGene: 21036 GeneCards: 3752
Genetically Related Diseases
Disease Name References
Smallpox.
RNA expression pattern
PBB GE KCND3 211301 at tn.png

PBB GE KCND3 211827 s at tn.png

PBB GE KCND3 215014 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004980
NM_172198

NM_001039347
NM_019931

RefSeq (protein)

NP_004971.2
NP_751948.1

NP_001034436.1
NP_064315.1

Location (UCSC) Chr 1: 111.77 – 111.99 Mb Chr 3: 105.45 – 105.67 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Potassium voltage-gated channel subfamily D member 3 also known as Kv4.3 is a protein that in humans is encoded by the KCND3 gene.[4][5][6] It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.[7]

Function[edit]

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).

Kv4.3 is 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.[6]

Clinical significance[edit]

Gain of function is believed to cause Brugada Syndrome although only indirectly shown by mutations in the beta subunit KCNE3 which causes gain of function of Kv4.3.

See also[edit]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_8736&geneId=80946". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Postma AV, Bezzina CR, de Vries JF, Wilde AA, Moorman AF, Mannens MM (Aug 2000). "Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3". Hum Genet. 106 (6): 614–9. doi:10.1007/s004390050033. PMID 10942109. 
  5. ^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. 
  6. ^ a b "Entrez Gene: KCND3 potassium voltage-gated channel, Shal-related subfamily, member 3". 
  7. ^ Oudit GY, Kassiri Z, Sah R, Ramirez RJ, Zobel C, Backx PH (May 2001). "The molecular physiology of the cardiac transient outward potassium current (I(to)) in normal and diseased myocardium". J. Mol. Cell. Cardiol. 33 (5): 851–72. doi:10.1006/jmcc.2001.1376. PMID 11343410. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.