TOR2A (torsin family 2 member A)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 27433 |
| Gene name | Torsin family 2 member A |
| Gene symbol | TOR2A |
| Synonyms (NCBI Gene) |
TORP1
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| Chromosome | 9 |
| Chromosome location | 9q34.11 |
| Summary | This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which co |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8N2E6 | ||||||||||
| Protein name | Prosalusin (Torsin family 2 member A) (Torsin-2A) [Cleaved into: Salusin-alpha; Salusin-beta] | ||||||||||
| Protein function | Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides. | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Isoform 4 is ubiquitously expressed, with high level in vascular endothelial cells and vascular smooth muscle cells. {ECO:0000269|PubMed:12910263}. | ||||||||||
| Sequence |
MAAATRGCRPWGSLLGLLGLVSAAAAAWDLASLRCTLGAFCECDFRPDLPGLECDLAQHL |
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| Sequence length | 242 | ||||||||||
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q5JU69 | ||||||||||
| Protein name | Torsin-2A (Torsin family 2 member A) (Torsin-related protein 1) | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues. {ECO:0000269|PubMed:12910263}. | ||||||||||
| Sequence |
MAAATRGCRPWGSLLGLLGLVSAAAAAWDLASLRCTLGAFCECDFRPDLPGLECDLAQHL |
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| Sequence length | 321 | ||||||||||
| Interactions | View interactions | ||||||||||
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Related Genes
Genes most often co-reported with TOR2A across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to TOR2A (see Related Genes above), that are NOT already directly curated for TOR2A itself -- a lead worth checking, not a confirmed association.
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