TRPM8

Chr 2

transient receptor potential cation channel subfamily M member 8

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

NCBI Gene: 79054 ENSG00000144481 UniProt: Q7Z2W7 OMIM: 606678

TRPM8 encodes a calcium-permeable ion channel that detects cold temperatures below 23-28°C and is activated by cooling compounds like menthol, playing a central role in environmental temperature sensing and basal tear secretion. Mutations cause autosomal dominant or recessive disorders affecting temperature sensation and potentially other sensory functions. The gene shows low constraint against loss-of-function variants, suggesting complete loss may be tolerated in some contexts.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable ligand-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within several processes, including intracellular calcium ion homeostasis; response to cold; and thermoception. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

188

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted