TRPM8

Chr 2

transient receptor potential cation channel subfamily M member 8

Also known as: LTRPC6, LTrpC-6, TRPP8, trp-p8

NCBI Gene: 79054ENSG00000144481UniProt: Q7Z2W7

Predicted to enable ligand-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport; positive regulation of cold-induced thermogenesis; and thermoception. Predicted to act upstream of or within calcium ion transport; intracellular calcium ion homeostasis; and response to cold. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
2
Active trials
188
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.04
LOEUF
GOF
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.04LOEUF
pLI 0.000
Z-score 1.29
OE 0.82 (0.65–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.48Z-score
OE missense 0.95 (0.89–1.01)
600 obs / 633.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.65–1.04)
0≤0.351.4
Missense OE?0.95 (0.89–1.01)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 50 / 60.9Missense obs/exp: 600 / 633.7Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRPM8 · 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