PRAMEF5

Chr 1

PRAME family member 5

Also known as: PRAMEF23, PRAMEF5L

NCBI Gene: 343068 ENSG00000270601 UniProt: Q5TYX0

The protein is predicted to function as a ubiquitin ligase-substrate adaptor in the Cul2-RING complex, facilitating proteasome-mediated protein degradation in the cytoplasm. No definitive disease associations have been established for PRAMEF5 mutations in the clinical literature. The inheritance pattern for any potential PRAMEF5-related disorders has not been determined.

ResearchSummary from RefSeq

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…

DNmechanism

Clinical Summary— PRAMEF5

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ClinVar Variants

30 VUS of 42 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.76top 25%

GOF

0.5465th %ile

LOF

0.2092th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

VUS30

Likely Benign12

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	30	0	30
Likely Benign	11	1	12
Benign	0	0	0
Total	41	1	42

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

25 pathogenic / likely-pathogenic (of 32) ClinVar copy-number / structural variants overlap PRAMEF5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →