CTAGE8

Chr 7

CTAGE family member 8

NCBI Gene: 100142659ENSG00000289604UniProt: P0CG41

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; protein secretion; and vesicle cargo loading. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

60
ClinVar variants
49
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CTAGE8
📋
ClinVar Variants
49 Pathogenic / Likely Pathogenic· 6 VUS of 60 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

60 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic47
Likely Pathogenic2
VUS6
Likely Benign4
Benign1
47
Pathogenic
2
Likely Pathogenic
6
VUS
4
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————47
Likely Pathogenic
————2
VUS
————6
Likely Benign
————4
Benign
————1
Total—60

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CTAGE8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for CTAGE8

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