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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 disea... See more...
Aliases for TOR1AIP2 Gene
Aliases for TOR1AIP2 Gene
External Ids for TOR1AIP2 Gene
Previous GeneCards Identifiers for TOR1AIP2 Gene
- GC01M176546
- GC01M178075
- GC01M179809
- GC01M151044
- GC01M179884
- GC01M180102
- GC01M180961
- GC01M181052
- GC01M181068
- GC01M181282
- GC01M180225
- GC01M180321
- GC01M180421
- GC01M180516
- GC01M180604
- GC01M180702
- GC01M180792
- GC01M180886
- GC01M181421
Summaries for TOR1AIP2 Gene
-
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]
GeneCards Summary for TOR1AIP2 Gene
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.
UniProtKB/Swiss-Prot Summary for TOR1AIP2 Gene
-
Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity.
Additional gene information for TOR1AIP2 Gene
- HGNC (24055)
- NCBI Entrez Gene (163590)
- Ensembl (ENSG00000169905)
- OMIM® (614513)
- UniProtKB/Swiss-Prot (Q9H496)
- UniProtKB/Swiss-Prot (Q8NFQ8)
- Open Targets Platform(ENSG00000169905)
- Search for TOR1AIP2 at DataMed
- Search for TOR1AIP2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOR1AIP2 Gene
Genomics for TOR1AIP2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TOR1AIP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TOR1AIP2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOR1AIP2
- Top Transcription factor binding sites by QIAGEN in the TOR1AIP2 gene promoter:
-
- ARP-1
- ATF
- ATF-2
- GATA-2
- MAZR
- Pax-4a
- Pax-5
- Pax-6
- RORalpha2
- Zic3
Genomic Locations for TOR1AIP2 Gene
Latest Assembly
- chr1:179,839,967-179,877,803
- (GRCh38/hg38)
- Size:
- 37,837 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:179,809,111-179,846,938
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 37,828 bases
- Orientation:
- Minus strand
- chr1:179,809,102-179,846,938
- (GRCh37/hg19 by Ensembl)
- Size:
- 37,837 bases
- Orientation:
- Minus strand
Genomic View for TOR1AIP2 Gene
Genes around TOR1AIP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q25.2 by HGNC
- 1q25.2 by Entrez Gene
- 1q25.2 by Ensembl
TOR1AIP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TOR1AIP2 Gene
Proteins for TOR1AIP2 Gene
-
Protein details for TOR1AIP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H496-IFG15_HUMAN
- Recommended name:
- Torsin-1A-interacting protein 2, isoform IFRG15
- Protein Accession:
- Q9H496
- Q05BU2
Protein attributes for TOR1AIP2 Gene
- Size:
- 131 amino acids
- Molecular mass:
- 15348 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH32790.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform IFRG15]: Dubious isoform.
-
Protein details for TOR1AIP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NFQ8-TOIP2_HUMAN
- Recommended name:
- Torsin-1A-interacting protein 2
- Protein Accession:
- Q8NFQ8
Protein attributes for TOR1AIP2 Gene
- Size:
- 470 amino acids
- Molecular mass:
- 51263 Da
- Quaternary structure:
-
- Interacts with TOR1A and TOR1B (ATP-bound).
Protein Expression for TOR1AIP2 Gene
Post-translational modifications for TOR1AIP2 Gene
Other Protein References for TOR1AIP2 Gene
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for TOR1AIP2
- Novus Biologicals Antibodies for TOR1AIP2
- Invitrogen Antibodies for TOR1AIP2 (AFLGC-TOR1AIP2)
- Sino Biological Antibodies for TOR1AIP2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for TOR1AIP2
- Origene Custom Protein Services for TOR1AIP2
Assay products for research
No data available for DME Specific Peptides for TOR1AIP2 Gene
Domains & Families for TOR1AIP2 Gene
Gene Families for TOR1AIP2 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for TOR1AIP2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TOR1AIP2 Gene
- GenScript: Design optimal peptide antigens:
-
- IFRG15 protein (Q05BU2_HUMAN)
- cDNA FLJ77012, highly similar to Homo sapiens interferon responsive gene 15 (IFRG15), mRNA (Q9H496_HUMAN)
- Lumenal domain-like LAP1 (TOIP2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NFQ8- Family:
-
- Belongs to the TOR1AIP family.
Function for TOR1AIP2 Gene
Molecular function for TOR1AIP2 Gene
- UniProtKB/Swiss-Prot Induction:
- Induced by interferon alpha.
- UniProtKB/Swiss-Prot Function:
- Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity.
Phenotypes From GWAS Catalog for TOR1AIP2 Gene
| 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 |
Phenotypes for TOR1AIP2 Gene
- GenomeRNAi human phenotypes for TOR1AIP2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability ratio
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased IL-8 secretion
- Increased ionizing radiation sensitivity
- Downregulation of Wnt pathway after Wnt3A stimulation
- Weakly decreased NFAT1-GFP nuclear translocation
- Increased G1 length
- Increased G1 length, increased S length, increased G2 length
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TOR1AIP2 - Starting at $85 >
- * TOR1AIP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TOR1AIP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOR1AIP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOR1AIP2
miRNA for TOR1AIP2 Gene
- miRTarBase miRNAs that target TOR1AIP2
-
- mmu-miR-140-5p (MIRT003774)
- mmu-miR-425-5p (MIRT008480)
- mmu-miR-362-5p (MIRT008841)
- mmu-miR-17-5p (MIRT009834)
- mmu-miR-324-3p (MIRT010761)
- mmu-let-7b-5p (MIRT012007)
- mmu-miR-181a-5p (MIRT014043)
- mmu-miR-9-5p (MIRT015120)
- hsa-miR-335-5p (MIRT018849)
- hsa-miR-375 (MIRT020056)
- hsa-miR-21-5p (MIRT031050)
- hsa-miR-455-3p (MIRT037805)
- hsa-miR-125a-5p (MIRT045710)
- hsa-miR-138-2-3p (MIRT182713)
- hsa-miR-3611 (MIRT182757)
- hsa-let-7a-3p (MIRT182779)
- hsa-let-7b-3p (MIRT182780)
- hsa-let-7f-1-3p (MIRT182781)
- hsa-miR-98-3p (MIRT182783)
- hsa-miR-1284 (MIRT182786)
- hsa-miR-7977 (MIRT334328)
- hsa-miR-1273e (MIRT475272)
- hsa-miR-4266 (MIRT475273)
- hsa-miR-582-5p (MIRT475274)
- hsa-miR-101-3p (MIRT475275)
- hsa-miR-7847-3p (MIRT475276)
- hsa-miR-6880-5p (MIRT475277)
- hsa-miR-6851-5p (MIRT475278)
- hsa-miR-3689d (MIRT475279)
- hsa-miR-4722-5p (MIRT475280)
- hsa-miR-6134 (MIRT475281)
- hsa-miR-1827 (MIRT475282)
- hsa-miR-219b-3p (MIRT475283)
- hsa-miR-4779 (MIRT475284)
- hsa-miR-4695-5p (MIRT475285)
- hsa-miR-144-3p (MIRT475286)
- hsa-miR-302f (MIRT475287)
- hsa-miR-2467-3p (MIRT475288)
- hsa-miR-4649-3p (MIRT475289)
- hsa-miR-6125 (MIRT475290)
- hsa-miR-4768-3p (MIRT475291)
- hsa-miR-940 (MIRT475292)
- hsa-miR-6808-5p (MIRT475293)
- hsa-miR-6893-5p (MIRT475294)
- hsa-miR-4520-2-3p (MIRT497472)
- hsa-miR-498 (MIRT497473)
- hsa-miR-4520-3p (MIRT497474)
- hsa-miR-142-3p (MIRT497475)
- hsa-miR-124-5p (MIRT497476)
- hsa-miR-4255 (MIRT497477)
- hsa-miR-4668-5p (MIRT505310)
- hsa-miR-3202 (MIRT505311)
- hsa-miR-4533 (MIRT505312)
- hsa-miR-7515 (MIRT505313)
- hsa-miR-4307 (MIRT505314)
- hsa-miR-5584-5p (MIRT505315)
- hsa-miR-942-3p (MIRT505316)
- hsa-miR-4802-3p (MIRT505317)
- hsa-miR-33a-3p (MIRT505318)
- hsa-miR-199b-3p (MIRT546198)
- hsa-miR-199a-3p (MIRT546199)
- hsa-miR-4536-5p (MIRT546200)
- hsa-miR-3650 (MIRT546201)
- hsa-miR-4451 (MIRT546202)
- hsa-miR-379-5p (MIRT546203)
- hsa-miR-3529-5p (MIRT546204)
- hsa-miR-4650-3p (MIRT546205)
- hsa-miR-4793-3p (MIRT546206)
- hsa-miR-3130-3p (MIRT546207)
- hsa-miR-4666a-3p (MIRT546208)
- hsa-miR-381-3p (MIRT546209)
- hsa-miR-300 (MIRT546210)
- hsa-miR-648 (MIRT546211)
- hsa-miR-5586-3p (MIRT546212)
- mmu-miR-804 (MIRT604588)
- mmu-miR-665-3p (MIRT604589)
- mmu-miR-706 (MIRT604590)
- mmu-miR-5135 (MIRT606592)
- mmu-miR-1195 (MIRT606593)
- mmu-miR-3089-5p (MIRT606594)
- hsa-miR-510-3p (MIRT614703)
- hsa-miR-8087 (MIRT614704)
- hsa-miR-7161-5p (MIRT614705)
- hsa-miR-548u (MIRT614706)
- hsa-miR-203a-3p (MIRT614707)
- hsa-miR-887-5p (MIRT634613)
- hsa-miR-6780a-5p (MIRT634614)
- hsa-miR-6779-5p (MIRT634615)
- hsa-miR-3689c (MIRT634616)
- hsa-miR-3689b-3p (MIRT634617)
- hsa-miR-3689a-3p (MIRT634618)
- hsa-miR-30b-3p (MIRT634619)
- hsa-miR-1273h-5p (MIRT634620)
- hsa-miR-6788-5p (MIRT634621)
- hsa-miR-30c-2-3p (MIRT634622)
- hsa-miR-30c-1-3p (MIRT634623)
- hsa-miR-8085 (MIRT634624)
- hsa-miR-6731-5p (MIRT634625)
- hsa-miR-6878-5p (MIRT634626)
- hsa-miR-24-3p (MIRT634627)
- hsa-miR-4284 (MIRT634628)
- hsa-miR-3065-3p (MIRT634629)
- hsa-miR-6813-3p (MIRT634630)
- hsa-miR-548z (MIRT657221)
- hsa-miR-548h-3p (MIRT657222)
- hsa-miR-548d-3p (MIRT657223)
- hsa-miR-548bb-3p (MIRT657224)
- hsa-miR-548ac (MIRT657225)
- hsa-miR-6885-3p (MIRT667930)
- hsa-miR-6809-3p (MIRT667931)
- hsa-miR-6833-3p (MIRT667932)
- hsa-miR-4768-5p (MIRT667933)
- hsa-miR-4684-5p (MIRT667934)
- hsa-miR-6831-3p (MIRT667935)
- hsa-miR-627-3p (MIRT667936)
- hsa-miR-6513-5p (MIRT677831)
- hsa-miR-3913-5p (MIRT677832)
- hsa-miR-3122 (MIRT677833)
- hsa-miR-450a-1-3p (MIRT677834)
- hsa-miR-6799-5p (MIRT677835)
- hsa-miR-6883-5p (MIRT677836)
- hsa-miR-6785-5p (MIRT677837)
- hsa-miR-4728-5p (MIRT677838)
- hsa-miR-149-3p (MIRT677839)
- hsa-miR-7106-5p (MIRT677840)
- hsa-miR-3926 (MIRT677841)
- hsa-miR-383-3p (MIRT677842)
- hsa-miR-548s (MIRT687902)
- hsa-miR-6827-3p (MIRT687903)
- hsa-miR-340-3p (MIRT687904)
- hsa-miR-6771-3p (MIRT687905)
- hsa-miR-548x-3p (MIRT687906)
- hsa-miR-548j-3p (MIRT687907)
- hsa-miR-548aq-3p (MIRT687908)
- hsa-miR-548am-3p (MIRT687909)
- hsa-miR-548aj-3p (MIRT687910)
- hsa-miR-548ah-3p (MIRT687911)
- hsa-miR-548ae-3p (MIRT687912)
- hsa-miR-1910-3p (MIRT738449)
- hsa-miR-3714 (MIRT742578)
- hsa-miR-605-3p (MIRT751658)
- hsa-miR-6511a-5p (MIRT753174)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOR1AIP2
- Browse OriGene Inhibitory RNA Products For TOR1AIP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1AIP2
Clone products for research
- Applied Biological Materials (abm): Clones for TOR1AIP2 - Starting at $45 >
- * TOR1AIP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG200751
- MG208070
- MG223115
- MG223488
- MG224305
- MR200751
- MR200751L3
- MR200751L4
- MR208070
- MR208070L3
- MR208070L4
- MR223115
- MR223115L3
- MR223115L4
- MR223488
- MR223488L3
- MR223488L4
- MR224305
- MR224305L3
- MR224305L4
- RC210930
- RC210930L1
- RC210930L2
- RC210930L3
- RC210930L4
- RC218684
- RC218684L3
- RC218684L4
- RC234196
- RG210930
- RG218684
- RG234196
- RR214840
- RR214840L3
- RR214840L4
- RR215869
- RR215870
- MR200751L3V
- MR200751L4V
- MR208070L3V
- MR208070L4V
- MR223115L3V
- MR223115L4V
- MR223488L3V
- MR223488L4V
- MR224305L3V
- MR224305L4V
- RC210930L1V
- RC210930L2V
- RC210930L3V
- RC210930L4V
- RC218684L3V
- RC218684L4V
- RR214840L3V
- RR214840L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TOR1AIP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOR1AIP2
Cell Lines for research
-
Horizon Cell Lines for TOR1AIP2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR1AIP2 Gene
Localization for TOR1AIP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TOR1AIP2 Gene
- Endoplasmic reticulum membrane. Single-pass membrane protein. Nucleus membrane.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| extracellular | 0 |
- Endoplasmic reticulum (4)
| 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 | -- |
Pathways & Interactions for TOR1AIP2 Gene
Interacting Proteins for TOR1AIP2 Gene
Selected Interacting proteins:
Q9H496-IFG15_HUMAN
Q8NFQ8-TOIP2_HUMAN
ENSP00000356584
for TOR1AIP2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TOR1AIP2
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for TOR1AIP2 Gene
Transcripts for TOR1AIP2 Gene
mRNA/cDNA for TOR1AIP2 Gene
- 9 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000367612 7905 nts (view in UCSC)
- ENST00000474318 1760 nts (view in UCSC)
- ENST00000482587 7067 nts (view in UCSC)
- ENST00000483123 2687 nts (view in UCSC)
- ENST00000495650 888 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for TOR1AIP2 - Starting at $85 >
- * TOR1AIP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for TOR1AIP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOR1AIP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for TOR1AIP2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TOR1AIP2
- Browse OriGene Inhibitory RNA Products For TOR1AIP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR1AIP2
Clone products for research
- Applied Biological Materials (abm): Clones for TOR1AIP2 - Starting at $45 >
- * TOR1AIP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG200751
- MG208070
- MG223115
- MG223488
- MG224305
- MR200751
- MR200751L3
- MR200751L4
- MR208070
- MR208070L3
- MR208070L4
- MR223115
- MR223115L3
- MR223115L4
- MR223488
- MR223488L3
- MR223488L4
- MR224305
- MR224305L3
- MR224305L4
- RC210930
- RC210930L1
- RC210930L2
- RC210930L3
- RC210930L4
- RC218684
- RC218684L3
- RC218684L4
- RC234196
- RG210930
- RG218684
- RG234196
- RR214840
- RR214840L3
- RR214840L4
- RR215869
- RR215870
- MR200751L3V
- MR200751L4V
- MR208070L3V
- MR208070L4V
- MR223115L3V
- MR223115L4V
- MR223488L3V
- MR223488L4V
- MR224305L3V
- MR224305L4V
- RC210930L1V
- RC210930L2V
- RC210930L3V
- RC210930L4V
- RC218684L3V
- RC218684L4V
- RR214840L3V
- RR214840L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TOR1AIP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TOR1AIP2
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||
| SP5: | - | - |
Relevant External Links for TOR1AIP2 Gene
- GeneLoc Exon Structure for
- TOR1AIP2
Expression for TOR1AIP2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Tooth (Integumentary System)
This gene is overexpressed in Bone (13.4) and Breast (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOR1AIP2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOR1AIP2
SOURCE GeneReport for Unigene cluster for TOR1AIP2 Gene:
Hs.571797Evidence on tissue expression from TISSUES for TOR1AIP2 Gene
- Liver(4.5)
- Nervous system(4.4)
- Kidney(2.2)
Primer products for research
-
OriGene qPCR primer pairs for TOR1AIP2
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOR1AIP2 Gene
Orthologs for TOR1AIP2 Gene
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 |
- Species where no ortholog for TOR1AIP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for TOR1AIP2 Gene
- ENSEMBL:
- Gene Tree for TOR1AIP2 (if available)
- TreeFam:
- Gene Tree for TOR1AIP2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TOR1AIP2: view image
Paralogs for TOR1AIP2 Gene
(1) SIMAP similar genes for TOR1AIP2 Gene using alignment to 2 proteins:
- IFG15_HUMAN
- TOIP2_HUMAN
Pseudogenes.org Pseudogenes for TOR1AIP2 Gene
Variants for TOR1AIP2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOR1AIP2 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv473n100 | CNV | gain | 25217958 |
| esv2568232 | CNV | deletion | 19546169 |
| nsv519273 | CNV | loss | 19592680 |
| nsv528201 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.51;
29.42% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TOR1AIP2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- TOR1AIP2
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR1AIP2 Gene
Disorders for TOR1AIP2 Gene
| 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 |
|
|
Search TOR1AIP2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for TOR1AIP2
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for TOR1AIP2 Gene
Publications for TOR1AIP2 Gene
- The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PMID: 15767459) Goodchild RE … Dauer WT (The Journal of cell biology 2005) 2 3 4
- Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. (PMID: 27490483) Demircioglu FE … Schwartz TU (eLife 2016) 3 4
- Arresting a Torsin ATPase reshapes the endoplasmic reticulum. (PMID: 24275647) Rose AE … Schlieker C (The Journal of biological chemistry 2014) 3 4
- Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C … Schlieker C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
- LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. (PMID: 19339278) Vander Heyden AB … Hanson PI (Molecular biology of the cell 2009) 3 4
ExternalLinks
Products for TOR1AIP2 Gene
- Custom Antibody ServicesOriGene Antibodies for TOR1AIP2
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- antibodies-online: Show 7 available TOR1AIP2 Antibodies ranked by validation data
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TOR1AIP2
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Sources for TOR1AIP2 Gene
- (1) GeneCards
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- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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