TOR1AIP2 Gene
protein-coding GIFtS: 46
GCID: GC01M179809
|
|
torsin A interacting protein 2
| |
Aliases for TOR1AIP2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Torsin A Interacting Protein 21 2 | | RP11-12M5.52 | | LULL11 2 3 | | Interferon Responsive Gene 152 | | IFRG151 2 | | Lumenal Domain Like LAP12 | | NET91 2 | | Torsin-1A-Interacting Protein 22 | | Lumenal Domain-Like LAP12 3 | | |
Export aliases for TOR1AIP2 gene to outside databasesPrevious GC identifers: GC01M176546 GC01M178075 GC01M151044 |
Summaries for TOR1AIP2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: TOIP2_HUMAN, Q8NFQ8Function: Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope
|
Genomic Views for TOR1AIP2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TOR1AIP2 gene promoter: MAZR Pax-5 Pax-6 ATF-2 RORalpha2 GATA-2 ARP-1 Zic3 Pax-4a ATF Other transcription factors
Search SABiosciences Chromatin IP Primers for TOR1AIP2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR1AIP2 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q25.2 Ensembl cytogenetic band: 1q25.2 HGNC cytogenetic band: 1q25.2TOR1AIP2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M179809: view genomic region
(about GC identifiers)
Start:
|
179,809,102 bp from pter |
End:
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179,846,941 bp from pter |
Size:
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37,840 bases |
Orientation:
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minus strand |
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Proteins for TOR1AIP2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: TOIP2_HUMAN, Q8NFQ8 (See
protein sequence)Recommended Name: Torsin-1A-interacting protein 2 Size: 470 amino acids; 51263 Da
Subunit: Interacts with TOR1A
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membraneExplore the universe of human proteins at neXtProt for TOR1AIP2: NX_Q8NFQ8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NFQ8 TOR1AIP2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001186189.1 NP_071742.1 NP_659471.1 ENSEMBL proteins: ENSP00000356584 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
TOR1AIP2 for ontologies About GeneDecksing
TOR1AIP2 Antibody Products: Assay Products for TOR1AIP2: |
Protein
Domains / Families for TOR1AIP2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TOR1AIP2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q8NFQ8ProtoNet protein and cluster: Q8NFQ8 UniProtKB/Swiss-Prot: TOIP2_HUMAN, Q8NFQ8Similarity: Belongs to the TOR1AIP family |
Function for TOR1AIP2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: TOIP2_HUMAN, Q8NFQ8Function: Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1AIP2 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1AIP2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): TOR1AIP2 (NM_001199260) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
-- | -- |
TOR1AIP2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TOR1AIP2:
|
Pathways & Interactions for TOR1AIP2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TOR1AIP2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 9)
 5/9 Interacting proteins for TOR1AIP2 (Q8NFQ81, 3 ENSP000003565844) via UniProtKB, MINT, STRING, and/or I2D (see all 9)About this table
|
Drugs & Compounds for TOR1AIP2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for TOR1AIP2 Search CenterWatch for drugs/clinical trials and news about TOR1AIP2 / TOIP2 
|
Transcripts for TOR1AIP2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for TOR1AIP2 gene (3 alternative transcripts): NM_001199260.1 NM_022347.3 NM_145034.4 Unigene Clusters for TOR1AIP2: Torsin A interacting protein 2 Hs.571797 [show with all ESTs], Hs.723247 [show with all ESTs]Unigene Representative Sequences: NM_001199260, BC0242265 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000367612(uc001gnl.3 uc001gnk.3) ENST00000482587(uc001gnn.3) ENST00000495650 ENST00000474318 ENST00000483123
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1AIP2 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR1AIP2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): TOR1AIP2 (NM_001199260) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TOR1AIP2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1AIP2  |
Additional cDNA sequence: BC024226.1 BC032790.1 8 DOTS entries: DT.314237 DT.206217 DT.408130 DT.100748319 DT.91703041 DT.100748317 DT.92442927 DT.40284203 24/84 AceView cDNA sequences (see all 84): CD517727 AI073752 AF464140 AA805920 BM713354 AW003695 BF363003 AV733826 BX642206 BF435155 AA308181 BF431472 AJ299406 CB961252 AA918436 NM_022347 NM_145034 BX480772 BX472169 BQ214560 W88821 AI741214 BI055510 W88822 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for TOR1AIP2 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | |
| SP1: | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for TOR1AIP2
|
Expression for TOR1AIP2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TOR1AIP2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See TOR1AIP2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TOR1AIP2
SOURCE GeneReport for Unigene clusters: Hs.571797 Hs.723247 SABiosciences Custom PCR Arrays for TOR1AIP2
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR1AIP2 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TOR1AIP2 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TOR1AIP2 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TOR1AIP2 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP2 |
Orthologs for TOR1AIP2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for TOR1AIP2 gene from 3/12 species (see all 12) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
TOR1AIP21 |
torsin A interacting protein 2 |
55.5(n) 46.55(a) |
  |
424419 XM_422262.3 XP_422262.2 |
lizard (Anolis carolinensis) |
Reptilia |
TOR1AIP26 |
-- |
67(a) |
1 ↔ 1 |
4(70676379-70677077) |
zebrafish (Danio rerio) |
Actinopterygii |
BI979684.12 |
-- |
73.06(n) |
  |
BI979684.1 |
ENSEMBL Gene Tree for TOR1AIP2 (if available) TreeFam Gene Tree for TOR1AIP2 (if available)  |
Paralogs for TOR1AIP2 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for TOR1AIP2 gene
- TOR1AIP12
1 SIMAP similar gene for TOR1AIP2 using alignment to 1 protein entry: TOIP2_HUMAN:TOR1AIP1
TOR1AIP2 for paralogs About GeneDecksing
|
Genomic Variants for TOR1AIP2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 1 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for TOR1AIP2 (179809102 - 179846941 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for TOR1AIP2 1 CNV: 97570  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOR1AIP2 |
|
Disorders
/ Diseases for TOR1AIP2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TOR1AIP2 for disorders About MalaCards
TOR1AIP2 for disorders About GeneDecksing
OMIM gene information: 614513
OMIM disorders: --
Export disorders for TOR1AIP2 gene to outside databases
|
Publications for TOR1AIP2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TOR1AIP2 gene, integrated from 9 sources (see all 23): (articles sorted by number of sources associating them with TOR1AIP2) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The AAA+ protein torsinA interacts with a conserved domain present in LAP1 and a novel ER protein. (PubMed id 15767459)1, 2, 3 Goodchild R.E. and Dauer W.T. (2005)
- LULL1 retargets TorsinA to the nuclear envelope revea ling an activity that is impaired by the DYT1 dystonia mutation. (PubMed id 19339278)1, 2 Vander Heyden A.B....Hanson P.I. (2009)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Interaction of torsinA with its major binding partner s is impaired by the dystonia-associated DeltaGAG deletion. (PubMed id 19651773)1, 9 Naismith T.V....Hanson P.I. (2009)
- Proteomic identification of common SCF ubiquitin ligas e FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (2012)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
|
External Searches for TOR1AIP2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing TOR1AIP2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TOR1AIP2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TOR1AIP2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for TOR1AIP2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TOR1AIP2 gene: Search GeneIP for patents involving TOR1AIP2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for TOR1AIP2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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 | | TOR1AIP2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR1AIP2 |
|  |  |  | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR1AIP2 |
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