TMC7

Chr 16

transmembrane channel like 7

NCBI Gene: 79905ENSG00000170537UniProt: Q7Z402

Predicted to enable ion channel inhibitor activity and mechanosensitive monoatomic ion channel activity. Predicted to be involved in sensory perception of mechanical stimulus. Predicted to be located in plasma membrane. Predicted to be active in neuronal cell body. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.000
Z-score 2.40
OE 0.57 (0.41–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.26Z-score
OE missense 0.83 (0.76–0.90)
342 obs / 414.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.57 (0.41–0.82)
0≤0.351.4
Missense OE?0.83 (0.76–0.90)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 21 / 36.7Missense obs/exp: 342 / 414.0Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMC7 · 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