PRAMEF2

Chr 1

PRAME family member 2

Also known as: DJ845O24.3

NCBI Gene: 65122ENSG00000120952UniProt: O60811

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.81
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?
1.81LOEUF
pLI 0.000
Z-score -0.64
OE 1.21 (0.78–1.81)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.95Z-score
OE missense 1.74 (1.60–1.89)
392 obs / 225.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.21 (0.78–1.81)
0≤0.351.4
Missense OE?1.74 (1.60–1.89)
0≤0.61.4
Synonymous OE?1.57
0≤1.21.6
LoF obs/exp: 13 / 10.7Missense obs/exp: 392 / 225.3Syn Z: -4.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRAMEF2 · 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