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Gene: TOR1AIP2 (torsin 1A interacting protein 2) Homo sapiens
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Symbol: TOR1AIP2
Name: torsin 1A interacting protein 2
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ77012; IFRG15; interferon alpha responsive protein; interferon responsive gene 15; LULL1; lumenal domain like LAP1; lumenal domain-like LAP1; MGC120074; MGC120075; MGC120076; MGC120077; MGC126581; MGC138430; NET9; RP11-12M5.5; torsin A interacting protein 2; torsin-1A-interacting protein 2
Orthologs:
Mus musculus (house mouse) : Tor1aip2 (torsin A interacting protein 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tor1aip2 (torsin 1A interacting protein 2)  Alliance
Canis lupus familiaris (dog) : LOC106557472 (torsin-1A-interacting protein 2-like)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC106144612 (torsin-1A-interacting protein 2)
Sus scrofa (pig) : TOR1AIP2 (torsin 1A interacting protein 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381179,839,976 - 179,877,803 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371179,809,102 - 179,847,867 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361178,080,576 - 178,113,557 (-)NCBINCBI36hg18NCBI36
Celera1152,920,678 - 152,954,553 (-)NCBI
Cytogenetic Map1q25.2NCBI
HuRef1151,040,947 - 151,078,786 (-)NCBIHuRef
CHM1_11181,232,909 - 181,270,748 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TOR1AIP2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1604221
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.