REEP5

Chr 5

receptor accessory protein 5

Also known as: C5orf18, D5S346, DP1, POB16, TB2, YOP1, Yip2e

NCBI Gene: 7905ENSG00000129625UniProt: Q00765OMIM: 125265

Predicted to be involved in endoplasmic reticulum membrane organization and regulation of intracellular transport. Located in endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.001
Z-score 1.00
OE 0.65 (0.35–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.08Z-score
OE missense 0.98 (0.83–1.16)
100 obs / 102.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.35–1.27)
0≤0.351.4
Missense OE?0.98 (0.83–1.16)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 6 / 9.3Missense obs/exp: 100 / 102.2Syn Z: -0.82

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

REEP5 · 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