Aliases for TOR1AIP2 Gene
External Ids for TOR1AIP2 Gene
Previous GeneCards Identifiers for TOR1AIP2 Gene
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]
GeneCards Summary for TOR1AIP2 Gene
TOR1AIP2 (Torsin 1A Interacting Protein 2) is a Protein Coding gene. Diseases associated with TOR1AIP2 include Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures and Dystonia 1, Torsion, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include ATPase binding and ATPase activator activity. An important paralog of this gene is TOR1AIP1.
UniProtKB/Swiss-Prot Summary for TOR1AIP2 Gene
Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity.