Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 81790
MIM: 614649
HGNC: 25358
Ensembl: ENSG00000120925
Variants:
dbSNP: 81790
ClinVar: 81790
TCGA: ENSG00000120925
COSMIC: RNF170
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34469621 | 2022 | RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement. | 1 |
| 34469621 | 2022 | RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement. | 1 |
| 33165979 | 2021 | RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation. | 2 |
| 33165979 | 2021 | RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation. | 2 |
| 31636353 | 2019 | Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. | 22 |
| 31636353 | 2019 | Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. | 22 |
| 25882839 | 2015 | A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling. | 16 |
| 25882839 | 2015 | A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling. | 16 |
| 21115467 | 2011 | A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. | 19 |
| 21610068 | 2011 | RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation. | 57 |
| 21115467 | 2011 | A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. | 19 |
| 21610068 | 2011 | RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation. | 57 |
Citation
Dessen P
RNF170 (ring finger protein 170)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54584/rnf170-(ring-finger-protein-170)
