RNF207

Chr 1

ring finger protein 207

Also known as: C1orf188

NCBI Gene: 388591ENSG00000158286UniProt: Q6ZRF8

Enables Hsp70 protein binding activity and transmembrane transporter binding activity. Involved in positive regulation of gene expression. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
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?
0.95LOEUF
pLI 0.000
Z-score 1.77
OE 0.67 (0.48–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.45Z-score
OE missense 0.93 (0.86–1.02)
353 obs / 377.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.67 (0.48–0.95)
0≤0.351.4
Missense OE?0.93 (0.86–1.02)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 23 / 34.2Missense obs/exp: 353 / 377.9Syn Z: 0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF207 · 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