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 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:179,859,030-179,877,799)mRNA (may differ from genome)Protein (131 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKB

-  MalaCards Disease Associations
  MalaCards Gene Search: TOR1AIP2
Diseases sorted by gene-association score: dystonia (4), neuromuscular disease (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.64 RPKM in Liver
Total median expression: 117.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -275.30920-0.299 Picture PostScript Text
3' UTR -1850.405751-0.322 Picture PostScript Text

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
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding


-  Descriptions from all associated GenBank mRNAs
  BC094724 - Homo sapiens torsin A interacting protein 2, mRNA (cDNA clone IMAGE:30344474), with apparent retained intron.
AF464140 - Homo sapiens hypothetical protein mRNA, complete cds.
AK021454 - Homo sapiens cDNA FLJ11392 fis, clone HEMBA1000575.
JD264543 - Sequence 245567 from Patent EP1572962.
JD308135 - Sequence 289159 from Patent EP1572962.
JD308134 - Sequence 289158 from Patent EP1572962.
JD321738 - Sequence 302762 from Patent EP1572962.
DQ570242 - Homo sapiens piRNA piR-30354, complete sequence.
JD521085 - Sequence 502109 from Patent EP1572962.
AK289793 - Homo sapiens cDNA FLJ77012 complete cds, highly similar to Homo sapiens interferon responsive gene 15 (IFRG15), mRNA.
BC065285 - Homo sapiens cDNA clone IMAGE:6016511, **** WARNING: chimeric clone ****.
AJ299406 - Homo sapiens mRNA for IFRG15 protein.
BC096704 - Homo sapiens interferon responsive gene 15, mRNA (cDNA clone MGC:120075 IMAGE:40021613), complete cds.
BC098170 - Homo sapiens interferon responsive gene 15, mRNA (cDNA clone MGC:120076 IMAGE:40021614), complete cds.
BC098309 - Homo sapiens interferon responsive gene 15, mRNA (cDNA clone MGC:120077 IMAGE:40021617), complete cds.
BC098348 - Homo sapiens interferon responsive gene 15, mRNA (cDNA clone MGC:120074 IMAGE:40021612), complete cds.
KJ895733 - Synthetic construct Homo sapiens clone ccsbBroadEn_05127 TOR1AIP2 gene, encodes complete protein.
BC032790 - Homo sapiens interferon responsive gene 15, mRNA (cDNA clone IMAGE:3451211), partial cds.
BC024226 - Homo sapiens, clone IMAGE:3682579, mRNA.
AK057623 - Homo sapiens cDNA FLJ33061 fis, clone TRACH2000024.
JD107498 - Sequence 88522 from Patent EP1572962.
JD344810 - Sequence 325834 from Patent EP1572962.
JD556252 - Sequence 537276 from Patent EP1572962.
JD196170 - Sequence 177194 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: hCG_1759493, IFRG15, NM_022347, Q9H496, Q9H496_HUMAN, uc001gnn.1, uc001gnn.2, uc001gnn.3, uc001gnn.4
UCSC ID: uc001gnn.4
RefSeq Accession: NM_022347
Protein: Q9H496 CCDS: CCDS53439.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.