RNF17

Chr 13

ring finger protein 17

Also known as: Mmip-2, SPATA23, TDRD4

NCBI Gene: 56163ENSG00000132972UniProt: Q9BXT8

This gene is similar to a mouse gene that encodes a testis-specific protein containing a RING finger domain. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, May 2010]

0
Active trials
46
Pathogenic / LP
322
ClinVar variants
2
Pubs (1 yr)
1.8
Missense Z
0.09
LOEUF· LoF intolerant
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.
📋
ClinVar Variants
46 Pathogenic / Likely Pathogenic· 178 VUS of 322 total submissions

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

322 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic37
Likely Pathogenic9
VUS178
Likely Benign50
Benign33
Conflicting15
37
Pathogenic
9
Likely Pathogenic
178
VUS
50
Likely Benign
33
Benign
15
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
3
28
0
37
Likely Pathogenic
4
1
4
0
9
VUS
0
143
35
0
178
Likely Benign
0
11
20
19
50
Benign
0
5
26
2
33
Conflicting
—15
Total1016311321322

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

View in ClinVar →

RNF17 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Fertility Relevance Probability Analysis Shortlists Genetic Markers for Male Fertility Impairment.
Greither T et al.·Cytogenet Genome Res
2020
Urothelial cancer gene regulatory networks inferred from large-scale RNAseq, Bead and Oligo gene expression data.
de Matos Simoes R et al.·BMC Syst Biol
2015
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
Population-specific, recent positive directional selection suggests adaptation of human male reproductive genes to different environmental conditions.
Schaschl H et al.·BMC Evol Biol
2020
Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia.
Li Z et al.·Sci Rep
2015Cohort
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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