TOR1B (torsin family 1 member B)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 27348 |
| Gene name | Torsin family 1 member B |
| Gene symbol | TOR1B |
| Synonyms (NCBI Gene) |
DQ1
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| Chromosome | 9 |
| Chromosome location | 9q34.11 |
| Summary | The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Fina |
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miRNA
miRNA information provided by mirtarbase database.
407
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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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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O14657 | ||||||||||
| Protein name | Torsin-1B (Torsin ATPase-1B) (EC 3.6.4.-) (Torsin family 1 member B) | ||||||||||
| Protein function | May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. Plays a role in non-neural cells nuclear envelope and endoplasmic reticulum integrity. May have a redundant function with TOR1A in non-neura | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed with low levels in brain. {ECO:0000269|PubMed:15147511}. | ||||||||||
| Sequence |
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| Sequence length | 336 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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