RNF170

Chr 8ADAR

ring finger protein 170

Also known as: ADSA, SNAX1, SPG85

NCBI Gene: 81790ENSG00000120925OMIM: 614649

This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

OMIMResearchGenerating clinical summary…
GOFmechanismAD/ARLOEUF 0.522 OMIM phenotypes
Clinical Summary— RNF170
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.51) — some intolerance to loss-of-function variants.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.511
Z-score 2.86
OE 0.20 (0.09–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.42Z-score
OE missense 0.66 (0.56–0.79)
93 obs / 140.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.09–0.52)
0≤0.351.4
Missense OE?0.66 (0.56–0.79)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 3 / 14.9Missense obs/exp: 93 / 140.3Syn Z: 0.81

This gene — mechanism propensity

DN
0.6162th %ile
GOF
0.6149th %ile
LOF
0.3067th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOF1 literature citation

Literature Evidence

GOFCoinjection of the mutant and wildtype mRNAs resulted in an intermediate number of disturbed embryos, suggesting a toxic gain of function.1

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

References

  1. 1.PMID 17190954 ↗

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF170 · 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.

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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