TOR1AIP2

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]

Description

Torsin 1A interacting protein 2

Tissue specificity

Low tissue specificity

Subcell location

Endoplasmic reticulum

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (179839967 - 179877803)

Ensembl ID

ENSG00000169905  (ver. 103.38)

Orthologs

Mouse Tor1aip2: ENSMUSG00000050565

UniProt

Q8NFQ8, Q9H496

neXtProt

NX_Q8NFQ8, NX_Q9H496

Human splice variants
Mouse splice variants

Protein structure