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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TOR1AIP2 Gene

protein-coding   GIFtS: 46
GCID: GC01M179809

Torsin A Interacting Protein 2

  Search for TOR1AIP2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Torsin A Interacting Protein 21 2     RP11-12M5.52
Lumenal Domain-Like LAP12 3     Interferon Responsive Gene 152
LULL12 3     Lumenal Domain Like LAP12
IFRG152     Torsin-1A-Interacting Protein 22
NET92     

External Ids:    HGNC: 240551   Entrez Gene: 1635902   Ensembl: ENSG000001699057   OMIM: 6145135   UniProtKB: Q8NFQ83   

Export aliases for TOR1AIP2 gene to outside databases

Previous GC identifers: GC01M176546 GC01M178075 GC01M151044


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TOR1AIP2 Gene: 
TOR1AIP2 (torsin A interacting protein 2) is a protein-coding gene. An important paralog of this gene is TOR1AIP1.

UniProtKB/Swiss-Prot: TOIP2_HUMAN, Q8NFQ8
Function: Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
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

SwitchGear Promoter luciferase reporter plasmidTOR1AIP2 promoter sequence
   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: 1q25.2

TOR1AIP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOR1AIP2 gene location

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:
179,846,941 bp from pter
Size:
37,840 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 membrane

Explore the universe of human proteins at neXtProt for TOR1AIP2: NX_Q8NFQ8

Explore proteomics data for TOR1AIP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NFQ8

  • TOR1AIP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TOR1AIP2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001186189.1  NP_071742.1  NP_659471.1  

    ENSEMBL proteins: 
     ENSP00000356584  

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    Cloud-Clone Corp. Proteins for TOR1AIP2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0031965nuclear membrane IEA--

    TOR1AIP2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR008662 Lamina-ass_polypeptide_CLAP1C

    Graphical View of Domain Structure for InterPro Entry Q8NFQ8

    ProtoNet protein and cluster: Q8NFQ8

    UniProtKB/Swiss-Prot: TOIP2_HUMAN, Q8NFQ8
    Similarity: Belongs to the TOR1AIP family


    TOR1AIP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TOIP2_HUMAN, Q8NFQ8
    Function: Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TOR1AIP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TOR1AIP2:
     Decreased Wnt reporter activit 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TOR1AIP2 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOR1AO146561, 3, ENSP000003457194EBI-524567,EBI-524257 I2D: score=2 STRING: ENSP00000345719
    COPS5Q929053, ENSP000003505124I2D: score=1 STRING: ENSP00000350512
    COPS6Q7L5N13, ENSP000003041024I2D: score=1 STRING: ENSP00000304102
    USP3Q9Y6I43, ENSP000003696814I2D: score=1 STRING: ENSP00000369681
    CUL4AQ136193, ENSP000003645894I2D: score=1 STRING: ENSP00000364589
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TOR1AIP2 (TOIP2)

    Search CenterWatch for drugs/clinical trials and news about TOR1AIP2 / TOIP2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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, AK057623
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367612(uc001gnl.3 uc001gnk.3) ENST00000482587(uc001gnn.3)
    ENST00000495650 ENST00000474318 ENST00000483123
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    Additional mRNA sequence: 

    AK057623.1 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):

    BX642206 AJ299406 AI073752 BF363003 AA308181 AW003695 CB961252 NM_022347 
    AA918436 BF435155 BM713354 CD517727 BF431472 BQ214560 AF464140 AA805920 
    NM_145034 AV733826 BX472169 BX480772 AI129697 BX324877 AW067828 W88821 

    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

    (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)      TOR1AIP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TOR1AIP2 Expression
    About this image


    TOR1AIP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Tooth (Integumentary System)
             Dental Enamel
     
     Uterus (Reproductive System)
             endometrial endothelial cell   
     
     Amnion (Extraembryonic Tissues)
             amniotic fluid   

    See TOR1AIP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TOR1AIP2

    SOURCE GeneReport for Unigene clusters: Hs.571797 Hs.723247
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    (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 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tor1aip21 , 5 torsin A interacting protein 21, 5 76.69(n)1
    69.51(a)1
      1 (67.70 cM)5
    2408321  NM_172843.41  NP_766431.31 
     1560354035 
    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
    Uncharacterized protein
    58(a)
    1 ↔ 1
    4(70661893-70678866)
    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 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



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/730 SNPs in TOR1AIP2 are shown (see all 730)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1908368121,2
    --179808634(+) GCCTGC/TGCCTA 2 -- ds50010--------
    rs1134256491,2
    C--179808764(+) TCAAAACAC/-  
            
    ACACA
    2 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1823622621,2
    C--179808924(+) GGCAGC/GGTCTG 2 -- ds50010--------
    rs771730031,2
    C,F--179809099(+) CAGTCC/TGCTGA 2 -- ds50012Minor allele frequency- T:0.11CSA WA 120
    rs1473354351,2
    --179809121(+) ATTTAG/TTCTTT 2 -- ut310--------
    rs2006903051,2
    C--179809257(+) GCACA-/ATTATTT 2 -- ut310--------
    rs1855614181,2
    --179809451(+) CTGCCC/GGGGGC 2 -- ut310--------
    rs776188791,2
    C,F--179809508(+) AAGTCT/CAAAAT 2 -- ut311Minor allele frequency- C:0.09WA 118
    rs1903756371,2
    --179809568(+) ATAAGC/TCTCAG 2 -- ut310--------
    rs1829519591,2
    --179809599(+) TTTGCC/TAAAAT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for TOR1AIP2 (179809102 - 179846941 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TOR1AIP2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2568232CNV Deletion19546169
    nsv519273CNV Loss19592680
    nsv528201CNV Loss19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TOR1AIP2 for disorders           About MalaCards
    OMIM gene information: 614513    OMIM disorders: --


    TOR1AIP2 for disorders           About GeneDecksing


    Export disorders for TOR1AIP2 gene to outside databases

    (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 27):
    (articles sorted by number of sources associating them with TOR1AIP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. 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)
    5. 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)
    6. Regulation of Torsin ATPases by LAP1 and LULL1. (PubMed id 23569223)1 Zhao C....Schlieker C. (2013)
    7. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    8. 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)
    9. 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)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 163590 HGNC: 24055 AceView: IFRG15 Ensembl:ENSG00000169905 euGenes: HUgn163590
    ECgene: TOR1AIP2 H-InvDB: TOR1AIP2

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for TOR1AIP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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