RNF5

Chr 6

ring finger protein 5

Also known as: RING5, RMA1

NCBI Gene: 6048ENSG00000204308UniProt: Q99942

The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
21
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.33
LOEUF
DN
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?
1.33LOEUF
pLI 0.000
Z-score 0.80
OE 0.74 (0.43–1.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.79Z-score
OE missense 0.78 (0.65–0.94)
82 obs / 104.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.43–1.33)
0≤0.351.4
Missense OE?0.78 (0.65–0.94)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 8 / 10.8Missense obs/exp: 82 / 104.8Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF5 · 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