TMEM64

Chr 8

transmembrane protein 64

NCBI Gene: 169200ENSG00000180694UniProt: Q6YI46

Predicted to be involved in several processes, including negative regulation of canonical Wnt signaling pathway; negative regulation of osteoblast differentiation; and positive regulation of cell differentiation. Predicted to act upstream of or within regulation of ATP-dependent activity. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.61
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?
0.61LOEUF
pLI 0.490
Z-score 2.39
OE 0.19 (0.08–0.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.62Z-score
OE missense 0.87 (0.76–0.99)
153 obs / 176.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.08–0.61)
0≤0.351.4
Missense OE?0.87 (0.76–0.99)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 2 / 10.3Missense obs/exp: 153 / 176.2Syn Z: 0.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM64 · 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