RIMBP3

Chr 22

RIMS binding protein 3

Also known as: RIM-BP3, RIM-BP3.1, RIM-BP3.A, RIMBP3.1, RIMBP3A

NCBI Gene: 85376ENSG00000275793UniProt: Q9UFD9

Predicted to enable benzodiazepine receptor binding activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.46
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.46LOEUF
pLI 0.000
Z-score 0.28
OE 0.92 (0.60–1.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.02Z-score
OE missense 0.83 (0.74–0.92)
225 obs / 272.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.92 (0.60–1.46)
0≤0.351.4
Missense OE?0.83 (0.74–0.92)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 13 / 14.1Missense obs/exp: 225 / 272.5Syn Z: 1.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RIMBP3 · 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