TOR1AIP2 Gene Summary [Human]
One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]
Details
| Type | Protein Coding |
| Official Symbol | TOR1AIP2 |
| Official Name | torsin 1A interacting protein 2 [Source:HGNC Symbol;Acc:HGNC:24055] |
| Ensembl ID | ENSG00000169905 |
| Bio databases IDs | |
| Aliases | torsin 1A interacting protein 2 |
| Synonyms | 1110020D10Rik, A130072J07, IFRG15, LOC163590, LULL1, NET9, torsin 1A interacting protein 2, torsin A interacting protein 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TOR1AIP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATPase stimulator
- Mucin-like
- ATPase binding
- Lamina-associated polypeptide 1, AAA+ activator domain
- protein binding
- Lamina-associated polypeptide 1, N-terminal
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum mitochondria contact site
- Endoplasmic Reticulum
- nuclear envelope
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TOR1AIP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane organization
- positive regulation of ATPase activity
- endoplasmic reticulum organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nuclear membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- ATPase activator activity
- ATPase binding