KCNC3

Chr 19AD

potassium voltage-gated channel subfamily C member 3

Also known as: KSHIIID, KV3.3, SCA13

NCBI Gene: 3748ENSG00000131398UniProt: Q14003OMIM: 176264

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spinocerebellar ataxia 13MIM #605259
AD

Clinical highlights

Gene-disease validity (ClinGen)
spinocerebellar ataxia type 13 · ADDefinitivesufficient evidence for diagnostic panels
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.
1
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — KCNC3
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.206
Z-score 2.72
OE 0.26 (0.13–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.04Z-score
OE missense 0.57 (0.51–0.64)
224 obs / 393.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.26 (0.13–0.59)
0≤0.351.4
Missense OE?0.57 (0.51–0.64)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 4 / 15.6Missense obs/exp: 224 / 393.8Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCNC3 · protein map & ClinVar variants

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

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