Gene Gene information from NCBI Gene database.
Entrez ID 81790
Gene name Ring finger protein 170
Gene symbol RNF170
Synonyms (NCBI Gene)
ADSASNAX1SPG85
Chromosome 8
Chromosome location 8p11.21
Summary 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
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs397514478 G>A Pathogenic Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs587780441 T>C Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
497
miRTarBase ID miRNA Experiments Reference
MIRT021592 hsa-miR-142-3p Microarray 17612493
MIRT023233 hsa-miR-122-5p Microarray 17612493
MIRT040795 hsa-miR-18a-3p CLASH 23622248
MIRT666530 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT666529 hsa-miR-1306-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0007628 Process Adult walking behavior IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614649 25358 ENSG00000120925
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96K19
Protein name E3 ubiquitin-protein ligase RNF170 (EC 2.3.2.27) (Putative LAG1-interacting protein) (RING finger protein 170) (RING-type E3 ubiquitin transferase RNF170)
Protein function E3 ubiquitin-protein ligase that plays an essential role in stimulus-induced inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) ubiquitination and degradation via the endoplasmic reticulum-associated degradation (ERAD) pathway. Also involved i
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00097 zf-C3HC4 87 129 Zinc finger, C3HC4 type (RING finger) Domain
PF06803 DUF1232 202 239 Protein of unknown function (DUF1232) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the spinal cord. {ECO:0000269|PubMed:21115467}.
Sequence
MAKYQGEVQSLKLDDDSVIEGVSDQVLVAVVVSFALIATLVYALFRNVHQNIHPENQELV
RVLREQLQTEQDAPAATRQQFYTDMYCPICLHQASFPVETNCGHLFCGACIIAYWRYGSW
LGAISCPIC
RQTVTLLLTVFGEDDQSQDVLRLHQDINDYNRRFSGQPRSIMERIMDLPTL
LRHAFREMFSVGGLFWMFRIRIILCLMGAFFYLISPLDFVPEALFGILGFLDDFFVIFLL
LIYISIMYREVITQRLTR
Sequence length 258
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant sensory ataxia 1 Pathogenic rs397514478 RCV000024296
Neurodevelopmental disorder Pathogenic rs2128929811 RCV001780019
Spastic paraplegia Likely pathogenic rs1159600703 RCV001849523
Spastic paraplegia 85, autosomal recessive Likely pathogenic; Pathogenic rs1159600703, rs2128922898, rs2128934252, rs397514478 RCV001806233
RCV001804215
RCV002255107
RCV003226168
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RNF170-related disorder Uncertain significance; Likely benign rs1476458814, rs148611952 RCV003402284
RCV003939054
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 34469621
Ataxia Sensory Autosomal Dominant Associate 34469621
Metabolic Syndrome Associate 37138862
Neurodegenerative Diseases Associate 31874412
Osteoarthritis Associate 37138862
Pallidopyramidal syndrome Associate 34469621
Spastic Paraplegia Hereditary Associate 31874412, 34469621