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.
2
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.
21
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant sensory ataxia 1 Pathogenic rs397514478 RCV000024296
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder Pathogenic rs2128929811 RCV001780019
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia Likely pathogenic rs1159600703 RCV001849523
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 85, autosomal recessive Likely pathogenic; Pathogenic rs1159600703, rs2128922898, rs2128934252, rs397514478 RCV001806233
RCV001804215
RCV002255107
RCV003226168
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT CTD, HPO
CTD, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA, SENSORY, AUTOSOMAL DOMINANT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 85 Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Ataxia Associate 34469621
★☆☆☆☆
Found in Text Mining only
Ataxia Sensory Autosomal Dominant Associate 34469621
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome Associate 37138862
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 31874412
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Associate 37138862
★☆☆☆☆
Found in Text Mining only
Pallidopyramidal syndrome Associate 34469621
★☆☆☆☆
Found in Text Mining only
Spastic Paraplegia Hereditary Associate 31874412, 34469621
★☆☆☆☆
Found in Text Mining only