ENTREP3

Chr 1

endosomal transmembrane epsin interactor 3

Also known as: C1orf2, COTE1, FAM189B

NCBI Gene: 10712ENSG00000160767UniProt: P81408OMIM: 619447

This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.000
Z-score 2.56
OE 0.47 (0.31–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.68Z-score
OE missense 0.90 (0.82–0.99)
339 obs / 376.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.31–0.75)
0≤0.351.4
Missense OE?0.90 (0.82–0.99)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 13 / 27.5Missense obs/exp: 339 / 376.3Syn Z: 0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ENTREP3 · 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