TMED7

Chr 5

transmembrane p24 trafficking protein 7

Also known as: CGI-109, Tag, p24g3, p24gamma3, p27

NCBI Gene: 51014ENSG00000134970UniProt: Q9Y3B3OMIM: 619990

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating 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
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.480
Z-score 2.37
OE 0.20 (0.08–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.50Z-score
OE missense 0.60 (0.49–0.74)
67 obs / 111.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.08–0.62)
0≤0.351.4
Missense OE?0.60 (0.49–0.74)
0≤0.61.4
Synonymous OE?1.19
0≤1.21.6
LoF obs/exp: 2 / 10.2Missense obs/exp: 67 / 111.5Syn Z: -0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMED7 · 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