RNF17

Chr 13

ring finger protein 17

ENSG00000132972UniProt: Q9BXT8OMIM: 605793

RNF17 encodes a RING finger domain-containing protein that regulates MYC transcriptional activity and can sequester Mad transcriptional repressors to the cytoplasm. The gene is extremely intolerant to loss-of-function variants (pLI >0.99, LOEUF 0.089), but no definitive human disease associations have been established in the current literature.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.09
Clinical Summary— RNF17
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.09LOEUF
pLI 1.000
Z-score 8.37
OE 0.03 (0.01–0.09)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
1.77Z-score
OE missense 0.83 (0.78–0.88)
679 obs / 822.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.03 (0.01–0.09)
0≤0.351.4
Missense OE0.83 (0.78–0.88)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 3 / 87.5Missense obs/exp: 679 / 822.0Syn Z: 0.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF17 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Two RNA binding proteins, ADAD2 and RNF17, interact to form a heterogeneous population of novel meiotic germ cell granules with developmentally dependent organelle association.
Chukrallah LG et al.·PLoS Genet
2023Open Access
ADAD2 interacts with RNF17 in P-bodies to repress the Ping-pong cycle in pachytene piRNA biogenesis.
Xiong M et al.·J Cell Biol
2023Open Access
An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168.
Guo Y et al.·J Biol Chem
2017
RNF17 blocks promiscuous activity of PIWI proteins in mouse testes.
Wasik KA et al.·Genes Dev
2015Open AccessFunctional
RNF17, a component of the mammalian germ cell nuage, is essential for spermiogenesis.
Pan J et al.·Development
2005
Top 5 resultsSearch Europe PMC ↗

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