TRPC3

Chr 4

transient receptor potential cation channel subfamily C member 3

Also known as: SCA41, TRP3

NCBI Gene: 7222ENSG00000138741UniProt: Q13507

The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia 41
1
Active trials
56
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.70LOEUF
pLI 0.000
Z-score 3.01
OE 0.47 (0.33–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
3.84Z-score
OE missense 0.52 (0.47–0.58)
267 obs / 511.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.47 (0.33–0.70)
0≤0.351.4
Missense OE?0.52 (0.47–0.58)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 18 / 38.0Missense obs/exp: 267 / 511.6Syn Z: 1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRPC3 · 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