KCND3

Chr 1

potassium voltage-gated channel subfamily D member 3

Also known as: BRGDA9, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22

NCBI Gene: 3752ENSG00000171385UniProt: Q9UK17

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia 19
UniProtBrugada syndrome 9

Clinical highlights

Gene-disease validity (ClinGen)
Brugada syndrome 1 · ADDisputedevidence questions this relationship
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
20
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.28
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
📖
GeneReview available — KCND3
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.28LOEUF
pLI 0.990
Z-score 4.01
OE 0.09 (0.04–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
3.85Z-score
OE missense 0.48 (0.43–0.54)
209 obs / 435.3 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.09 (0.04–0.28)
0≤0.351.4
Missense OE?0.48 (0.43–0.54)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 2 / 22.6Missense obs/exp: 209 / 435.3Syn Z: 0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCND3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients