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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]
TOR1AIP2 (Torsin 1A Interacting Protein 2) is a Protein Coding gene. Diseases associated with TOR1AIP2 include Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures and Dystonia 1, Torsion, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include ATPase binding and ATPase activator activity. An important paralog of this gene is TOR1AIP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001671 | ATPase activator activity | IDA | 23569223 |
GO:0005515 | protein binding | IPI | 15767459 |
GO:0051117 | ATPase binding | IPI | 23569223 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 24275647 |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007029 | endoplasmic reticulum organization | IMP | 24275647 |
GO:0032781 | positive regulation of ATPase activity | IDA | 23569223 |
GO:0061024 | membrane organization | IBA | 21873635 |
GO:0090435 | protein localization to nuclear envelope | IDA | 19339278 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TOR1AIP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TOR1AIP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TOR1AIP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tor1aip2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tor1aip2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | TOR1AIP2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TOR1AIP2 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | si:dkeyp-82a1.6 31 |
|
ManyToMany | |
zgc:112962 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6390 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs879255612 | Pathogenic: Muscular dystrophy, limb-girdle, type 2y | 179,882,687(-) |
AG/A NM_015602.3(TOR1AIP1):c.186del (p.Glu62fs) |
FRAMESHIFT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv473n100 | CNV | gain | 25217958 |
esv2568232 | CNV | deletion | 19546169 |
nsv519273 | CNV | loss | 19592680 |
nsv528201 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, autosomal recessive, with rigid spine and distal joint contractures |
|
|
dystonia 1, torsion, autosomal dominant |
|
|
dystonia |
|
|
transient tic disorder |
|
|
neuromuscular disease |
|
|