RNF115

Chr 1

ring finger protein 115

Also known as: BCA2, RABRING7, ZFP364, ZNF364

NCBI Gene: 27246ENSG00000265491UniProt: Q9Y4L5OMIM: 619535

Enables ubiquitin protein ligase activity. Involved in negative regulation of signal transduction; protein ubiquitination; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Is active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.81
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.81LOEUF
pLI 0.002
Z-score 2.13
OE 0.43 (0.24–0.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.47Z-score
OE missense 0.90 (0.79–1.03)
150 obs / 167.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.24–0.81)
0≤0.351.4
Missense OE?0.90 (0.79–1.03)
0≤0.61.4
Synonymous OE?0.69
0≤1.21.6
LoF obs/exp: 7 / 16.3Missense obs/exp: 150 / 167.0Syn Z: 1.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF115 · 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