Gene: KCND3

Alternate names for this Gene: BRGDA9|KCND3L|KCND3S|KSHIVB|KV4.3|SCA19|SCA22

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.2

Description of this Gene: potassium voltage-gated channel subfamily D member 3

Type of Gene: protein-coding

rs12044963 in KCND3 gene and Atrial Fibrillation PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 28416822 2017 Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs150401343 in KCND3 gene and BRUGADA SYNDROME 9 PMID 22457051 2012 Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.

PMID 21349352 2011 Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.

rs12033257 in KCND3 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.

rs12044963 in KCND3 gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs75013985 in KCND3 gene and Electrocardiogram: P-R interval PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

rs2798334 in KCND3 gene and P wave duration (observable entity) PMID 24850809 2014 Genetic determinants of P wave duration and PR segment.

rs2788612 in KCND3 gene and Prostate carcinoma PMID 24785509 2014 A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.

rs397515476 in KCND3 gene and Spinocerebellar ataxia 19 PMID 28895081 2018 Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 23280837 2012 Mutations in KCND3 cause spinocerebellar ataxia type 22.

PMID 23280838 2012 Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

rs2365669 in KCND3 gene and White Blood Cell Count procedure PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.