TMEM117

Chr 12

transmembrane protein 117

NCBI Gene: 84216ENSG00000139173UniProt: Q9H0C3

Involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
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?
0.83LOEUF
pLI 0.000
Z-score 2.21
OE 0.52 (0.34–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.56Z-score
OE missense 0.74 (0.66–0.83)
208 obs / 281.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.34–0.83)
0≤0.351.4
Missense OE?0.74 (0.66–0.83)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 13 / 24.9Missense obs/exp: 208 / 281.7Syn Z: -0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM117 · 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