RNF170
Chr 8ADARring finger protein 170
Also known as: ADSA, SNAX1, SPG85
The protein is an E3 ubiquitin ligase located in the endoplasmic reticulum membrane that mediates ubiquitination and degradation of inositol 1,4,5-trisphosphate receptors via the ER-associated protein degradation pathway. Mutations cause autosomal dominant sensory ataxia and autosomal recessive spastic paraplegia, affecting the nervous system with sensory and motor dysfunction. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), and exhibits both dominant and recessive inheritance patterns depending on the specific condition.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
126 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 1 | 47 | 0 | 51 |
Likely Pathogenic | 0 | 1 | 3 | 0 | 4 |
VUS | 0 | 34 | 14 | 1 | 49 |
Likely Benign | 0 | 3 | 1 | 2 | 6 |
Benign | 0 | 1 | 3 | 1 | 5 |
Conflicting | — | 4 | |||
| Total | 3 | 40 | 68 | 4 | 119 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in 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.
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.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools