TMEM217

Chr 6

transmembrane protein 217

Also known as: C6orf128, dJ355M6.2

NCBI Gene: 221468ENSG00000172738UniProt: Q8N7C4

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
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?
1.50LOEUF
pLI 0.000
Z-score 0.52
OE 0.81 (0.46–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.80Z-score
OE missense 0.80 (0.68–0.94)
101 obs / 126.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.81 (0.46–1.50)
0≤0.351.4
Missense OE?0.80 (0.68–0.94)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 7 / 8.6Missense obs/exp: 101 / 126.4Syn Z: -0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM217 · 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