SNURF
Chr 15SNRPN upstream open reading frame
SNURF encodes an E3 ubiquitin-protein ligase that targets polysumoylated proteins for proteasomal degradation and regulates chromosome alignment, spindle assembly, and cellular responses to stress. Loss of SNURF expression due to paternal deletions or imprinting defects in the chromosome 15q11-q13 region causes Prader-Willi syndrome, characterized by neonatal hypotonia, feeding difficulties, and later-onset hyperphagia and obesity. The gene shows paternal-only expression due to genomic imprinting, so only paternal genetic alterations result in disease.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is gain-of-function.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNURF · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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Links to major genomics databases and tools