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Protein-coding gene in humans

KCND3

KCND3
All data from the card 18
Aliases
KCND3, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22, BRGDA9, potassium voltage-gated channel subfamily D member 3
External IDs
OMIM: 605411; MGI: 1928743; GeneCards: KCND3
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 1 (human)
Band
1p13.2
End
111,989,668 bp
Chr.
Chromosome 3 (mouse)
Band
3|3 F2.2
End
105,581,318 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
3752
Ensembl
ENSG00000171385
UniProt
Q9UK17
RefSeq (mRNA)
NM_004980NM_172198NM_001378969NM_001378970
RefSeq (protein)
NP_004971NP_751948NP_001365898NP_001365899
Location (UCSC)
Chr 1: 111.77 – 111.99 Mb

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. It contributes to the cardiac transient outward potassium current (Ito1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

Function

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.

Clinical significance

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.

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Text from Wikipedia, CC BY-SA 4.0 · Source article