TMEM17

Chr 2

transmembrane protein 17

NCBI Gene: 200728ENSG00000186889UniProt: Q86X19

Involved in non-motile cilium assembly. Predicted to be located in ciliary membrane. Predicted to be part of MKS complex. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.26
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?
1.26LOEUF
pLI 0.009
Z-score 1.11
OE 0.55 (0.27–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.41Z-score
OE missense 0.89 (0.75–1.05)
93 obs / 104.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.27–1.26)
0≤0.351.4
Missense OE?0.89 (0.75–1.05)
0≤0.61.4
Synonymous OE?1.36
0≤1.21.6
LoF obs/exp: 4 / 7.2Missense obs/exp: 93 / 104.8Syn Z: -1.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM17 · 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