TRPM1

Chr 15

transient receptor potential cation channel subfamily M member 1

Also known as: CSNB1C, LTRPC1, MLSN1

NCBI Gene: 4308ENSG00000134160UniProt: Q7Z4N2

This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNight blindness, congenital stationary, 1C

Clinical highlights

Gene-disease validity (ClinGen)
TRPM1-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
44
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TRPM1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
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?
1.07LOEUF
pLI 0.000
Z-score 1.03
OE 0.88 (0.72–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.13Z-score
OE missense 1.01 (0.96–1.07)
914 obs / 903.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.72–1.07)
0≤0.351.4
Missense OE?1.01 (0.96–1.07)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 70 / 80.0Missense obs/exp: 914 / 903.0Syn Z: -0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRPM1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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