Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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81790
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Ring finger protein 170 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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RNF170 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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ADSA, SNAX1, SPG85 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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SNAX1, SPG85 |
Chromosome
Chromosome number
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8 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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8p11.21 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Ataxia |
ATAXIA, SENSORY, AUTOSOMAL DOMINANT |
rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986, rs1563130387, rs797045109, rs797045217, rs578189699, rs797046025, rs797046024, rs797046026, rs764847439, rs780451185, rs863224929, rs771578775, rs755933881, rs199874519, rs1085307053, rs886042265, rs201908721, rs747150601, rs1057519343, rs752130338, rs748118737, rs781518112, rs140246430, rs1554553667, rs1554573328, rs1554676394, rs1554753528, rs1203553546, rs1554829141, rs974677376, rs763325410, rs1554721227, rs1554226673, rs1554768245, rs1553280621, rs755531859, rs765966679, rs1554247806, rs750544827, rs768958602, rs1563941569, rs1564136499, rs1269308421, rs767584322, rs751637699, rs759460806, rs1271428051, rs752224921, rs1572040505, rs767406263, rs1590463470, rs771955377, rs1659738028 View all (52 more) |
21115467 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Spastic Paraplegia |
spastic paraplegia 85, autosomal recessive |
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|
GenCC |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Ataxia |
Associate
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34469621 |
Ataxia Sensory Autosomal Dominant |
Associate
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34469621 |
Metabolic Syndrome |
Associate
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37138862 |
Neurodegenerative Diseases |
Associate
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31874412 |
Osteoarthritis |
Associate
|
37138862 |
Pallidopyramidal syndrome |
Associate
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34469621 |
Spastic Paraplegia Hereditary |
Associate
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31874412, 34469621 |
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