KCND3 potassium voltage-gated channel subfamily D member 3
Gene ID: 3752, updated on 12-Sep-2024Gene type: protein coding
Also known as: KV4.3; SCA19; SCA22; BRGDA9; KCND3L; KCND3S; KSHIVB
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- Go to complete Gene record for KCND3
- Go to Variation Viewer for KCND3 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity. GeneReviews: Not available | |
| A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern. GeneReviews: Not available | |
| Brugada syndrome 9 | See labs |
| Genetic determinants of P wave duration and PR segment. GeneReviews: Not available | |
| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Hereditary ataxia MedGen: C0004138GeneReviews: Hereditary Ataxia Overview | See labs |
| Spinocerebellar ataxia type 19/22 | See labs |
Genomic context
- Location:
- 1p13.2
- Sequence:
- Chromosome: 1; NC_000001.11 (111770662..111989668, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCND3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCND3 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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