REEP3

Chr 10

receptor accessory protein 3

ENSG00000165476UniProt: Q6NUK4OMIM: 609348

Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes

OMIMResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.70
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.015
Z-score 2.45
OE 0.36 (0.19–0.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.08Z-score
OE missense 0.73 (0.62–0.87)
94 obs / 128.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.19–0.70)
0≤0.351.4
Missense OE?0.73 (0.62–0.87)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 6 / 16.8Missense obs/exp: 94 / 128.6Syn Z: 0.73

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

REEP3 · 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