RNF170 Chromosome 8
Ring finger protein 170
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What This Gene Does
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]
Gene Info
Gene Group
"Ring finger proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8p11.21
Ensembl
ENSG00000120925
Associated Conditions (6)
Autosomal dominant sensory ataxia 1
Spastic paraplegia 85
autosomal recessive
Spastic paraplegia
Inborn genetic diseases
Neurodevelopmental disorder
Key Variants
RS1183403793
Conflicting classifications of pathogenicity
Autosomal dominant sensory ataxia 1, Spastic paraplegia 85, autosomal recessive
Health Risk
RS1803244738
Conflicting classifications of pathogenicity
Autosomal dominant sensory ataxia 1, Autosomal dominant sensory ataxia 1
Health Risk
RS587780441
Conflicting classifications of pathogenicity
Autosomal dominant sensory ataxia 1, Autosomal dominant sensory ataxia 1
Health Risk
RS756602672
Conflicting classifications of pathogenicity
Autosomal dominant sensory ataxia 1, Spastic paraplegia 85, autosomal recessive
Health Risk
RS1159600703
Likely pathogenic
Spastic paraplegia 85, autosomal recessive, Spastic paraplegia
Health Risk
RS2128934252
Likely pathogenic
Spastic paraplegia 85, autosomal recessive, Inborn genetic diseases
Health Risk
RS2128922898
Pathogenic
Spastic paraplegia 85, autosomal recessive, Spastic paraplegia 85
Health Risk
RS2128929811
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS397514478
Pathogenic
Autosomal dominant sensory ataxia 1, Spastic paraplegia 85, autosomal recessive
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1183403793 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant sensory ataxia 1, Spastic paraplegia 85, autosomal recessive |
| RS1803244738 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant sensory ataxia 1, Autosomal dominant sensory ataxia 1 |
| RS587780441 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant sensory ataxia 1, Autosomal dominant sensory ataxia 1 |
| RS756602672 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant sensory ataxia 1, Spastic paraplegia 85, autosomal recessive |
| RS1159600703 | Health Risk | Likely pathogenic | Spastic paraplegia 85, autosomal recessive, Spastic paraplegia |
| RS2128934252 | Health Risk | Likely pathogenic | Spastic paraplegia 85, autosomal recessive, Inborn genetic diseases |
| RS2128922898 | Health Risk | Pathogenic | Spastic paraplegia 85, autosomal recessive, Spastic paraplegia 85 |
| RS2128929811 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS397514478 | Health Risk | Pathogenic | Autosomal dominant sensory ataxia 1, Spastic paraplegia 85, autosomal recessive |