SNURF

Chr 15

ring finger protein 4

Also known as: RES4-26, SLX5, SNURF

NCBI Gene: 6047ENSG00000273173UniProt: P78317

The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. A pseudogene of this gene is found on chromosome 1.[provided by RefSeq, Jul 2010]

394
ClinVar variants
309
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SNURF
📋
ClinVar Variants
309 Pathogenic / Likely Pathogenic· 66 VUS of 394 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

394 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic298
Likely Pathogenic11
VUS66
Likely Benign13
Benign5
298
Pathogenic
11
Likely Pathogenic
66
VUS
13
Likely Benign
5
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
297
0
298
Likely Pathogenic
0
0
11
0
11
VUS
3
51
12
0
66
Likely Benign
0
0
4
9
13
Benign
0
0
1
4
5
Total45132513393

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

View 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.

OMIM — Genotype-Phenotype Relationships

3 OMIM entries

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Pellikaan K et al.·Genes (Basel)
2021Review
Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.
Anderlid BM et al.·Am J Med Genet A
2014Review
Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.
Koufaris C et al.·J Genet
2016Case report
Genetic abnormalities in Prader-Willi syndrome and lessons from mouse models.
Nicholls RD et al.·Acta Paediatr Suppl
1999Review
RASSF1A disrupts the NOTCH signaling axis via SNURF/RNF4-mediated ubiquitination of HES1.
Papaspyropoulos A et al.·EMBO Rep
2022
Prader-Willi syndrome: reflections on seminal studies and future therapies.
Chung MS et al.·Open Biol
2020Review
The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.
Runte M et al.·Hum Mol Genet
2001
A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.
Cao Y et al.·Eur J Med Genet
2017Case report
RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing.
Chen PF et al.·Sci Rep
2016
Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.
Butler MG·Int J Mol Sci
2026Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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