2. Gene
  3. TOR1AIP2 - torsin 1A interacting protein 2 Gene

TOR1AIP2 - torsin 1A interacting protein 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NET9; LULL1; IFRG15

Gene ID: 163590 | Gene type: protein coding

About TOR1AIP2

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,839,976-179,877,803 (from NCBI)

This gene has 6 transcripts (splice variants), 259 orthologues and 1 paralogue. Ubiquitous expression in liver (RPKM 4.5), small intestine (RPKM 3.8) and 25 other tissues.

Summary

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 Products(9)

mRNA Protein Name
NM_001199260.2 NP_001186189.1 torsin-1A-interacting protein 2 isoform b
NM_001349931.2 NP_001336860.1 interferon alpha responsive protein isoform a
NM_001349933.1 NP_001336862.1 interferon alpha responsive protein isoform a
NM_001349934.2 NP_001336863.1 torsin-1A-interacting protein 2 isoform b
NM_001349935.2 NP_001336864.1 torsin-1A-interacting protein 2 isoform b
NM_001349936.2 NP_001336865.1 torsin-1A-interacting protein 2 isoform b
NM_001349937.2 NP_001336866.1 torsin-1A-interacting protein 2 isoform b
NM_022347.5 NP_071742.1 interferon alpha responsive protein isoform a
NM_145034.5 NP_659471.1 torsin-1A-interacting protein 2 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables ATPase activator activity IDA
IDA: Inferred from direct assay
23569223 GOA
enables ATPase binding IPI
IPI: Inferred from physical interaction
23569223 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15767459 GOA
Biological Process GO Annotation Evidence Reference Source
involved in endoplasmic reticulum organization IMP
IMP: Inferred from mutant phenotype
24275647 GOA
involved in positive regulation of ATP-dependent activity IDA
IDA: Inferred from direct assay
23569223 GOA
involved in protein localization to nuclear envelope IDA
IDA: Inferred from direct assay
19339278 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
24275647 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOR1AIP2 Protein Structure

LAP1C

LAP1C: Lamina-associated polypeptide 1C (LAP1C) (15 - 469)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 470 a.a.
Protein Preferred Names Protein Names

torsin-1A-interacting protein 2

interferon alpha responsive protein

15 kDa interferon-responsive protein

TOR1AIP2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
TOR1AIP2 Q9H496 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra
TOR1AIP2 Q9H496 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra
TOR1AIP2 Q9H496 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra
TOR1AIP2 Q9H496 GSN Homo sapiens P06396
Validated Y2H
32814053
Intra
TOR1AIP2 Q9H496 GSN Homo sapiens P06396
Y2H Pooling
32814053
Intra
TOR1AIP2 Q9H496 GSN Homo sapiens P06396
Y2H Array
32814053
Intra
TOR1AIP2 Q9H496 RBPMS Homo sapiens Q93062
Validated Y2H
25416956
Intra
TOR1AIP2 Q9H496 RBPMS Homo sapiens Q93062
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures

Muscular Dystrophy, Limb-Girdle, Type 2y

Lgmd2y

MRRSDC

Muscular Dystrophy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures

Tor1aip1-Related Limb-Girdle Muscular Dystrophy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd Type 2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Tor1aip1-Related Lgmd

Limb-Girdle Muscular Dystrophy 2y
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder
Dystonia 1, Torsion, Autosomal Dominant

Dystonia Musculorum Deformans 1

Dystonia Musculorum Deformans

DYT1

Early-Onset Torsion Dystonia

Eotd

Dystonia-1, Torsion

Torsion Dystonia 1

Autosomal Dominant Torsion Dystonia 1

Dystonia-1

Oppenheim'S Dystonia

Oppenheim-Ziehen Disease

Early Onset Torsion Dystonia

Dystonia 3, Torsion, X-Linked
Movement Disease

Movement Disorders

Movement Disorder
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14905 TOR1AIP2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TOR1AIP2 RGD RGD:735059
Bos taurus TOR1AIP2 VGNC VGNC:36225
Mus musculus TOR1AIP2 MGD MGI:3582695