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TOR1AIP2 - torsin 1A interacting protein 2 Gene

Also Known as NET9; LULL1; IFRG15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 163590

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	References	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	References	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	References	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

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

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	References
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

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 Set	/	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