After several years of serving the research community, our ActiveDriverDB database will be retired on May 1st 2026. Please make sure to download any data you need and update your links or workflows before that date.

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You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020

TOR1AIP2 (NM_001199260) - torsin 1A interacting protein 2

Torsin-1a-Interacting Protein 2 Isoform B

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of TOR1AIP2 protein. View all 3 isoforms
TOR1AIP2: torsin-1A-interacting protein 2 isoform b
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].

Strand
-
Chromosome
1
Protein
470 residues
All mutations
78
PTM sites
26
CDS
179,815,205 - 179,821,800
Transcription
179,809,101 - 179,846,941
45.74% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 163590
UniProt
Ensembl