TRPM3

Chr 9

transient receptor potential cation channel subfamily M member 3

Also known as: CTRCT50, GON-2, LTRPC3, MLSN2, NEDFSS

NCBI Gene: 80036ENSG00000083067UniProt: Q9HCF6

The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures
UniProtCataract 50 with or without glaucoma

Clinical highlights

Gene-disease validity (ClinGen)
syndromic complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
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
70
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.45
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — TRPM3
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
Missense constrained — critical functional residues
LoF Constraint?
0.45LOEUF
pLI 0.000
Z-score 5.64
OE 0.33 (0.24–0.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.18Z-score
OE missense 0.72 (0.67–0.76)
716 obs / 998.5 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.33 (0.24–0.45)
0≤0.351.4
Missense OE?0.72 (0.67–0.76)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 27 / 82.2Missense obs/exp: 716 / 998.5Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRPM3 · 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