Human Gene TOR1AIP2 (ENST00000482587.5) Description and Page Index
Description: Homo sapiens torsin 1A interacting protein 2 (TOR1AIP2), transcript variant 1, mRNA. (from RefSeq NM_022347) RefSeq Summary (NM_022347): 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]. Gencode Transcript: ENST00000482587.5 Gencode Gene: ENSG00000169905.12 Transcript (Including UTRs) Position: hg38 chr1:179,859,030-179,877,799 Size: 18,770 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr1:179,864,781-179,865,176 Size: 396 Coding Exon Count: 1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q9H496
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.