TOR1AIP2, Official Symbol TOR1AIP2provided by HGNC Official Full Name torsin 1A interacting protein 2provided by HGNC Primary source HGNC:HGNC:24055 See related Ensembl:ENSG00000169905 MIM:614513; AllianceGenome:HGNC:24055 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NET9; LULL1; IFRG15 Summary 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] Expression Ubiquitous expression in liver (RPKM 4.5), small intestine (RPKM 3.8) and 25 other tissues See more Orthologs mouse all