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THAP2 Gene

protein-coding   GIFtS: 48
GCID: GC12P072057

THAP Domain Containing, Apoptosis Associated Protein 2

  Search for THAP2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
THAP Domain Containing, Apoptosis Associated Protein 21 2
THAP Domain-Containing Protein 22

External Ids:    HGNC: 208541   Entrez Gene: 835912   Ensembl: ENSG000001734517   OMIM: 6125315   UniProtKB: Q9H0W73   

Export aliases for THAP2 gene to outside databases

Previous GC identifers: GC00U909479 GC12P070345 GC12P069106


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for THAP2 Gene:
THAP2 (THAP domain containing, apoptosis associated protein 2) is a protein-coding gene. An important paralog of this gene is THAP3.

Gene Wiki entry for THAP2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the THAP2 gene promoter:
         TBP   AML1a   Nkx2-5   GATA-1   PPAR-alpha   POU2F1   POU2F1a   TFIID   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTHAP2 promoter sequence
   Search Chromatin IP Primers for THAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat THAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q21.1   Ensembl cytogenetic band:  12q21.1   HGNC cytogenetic band: 12q21.1

THAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
THAP2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P072057:  view genomic region     (about GC identifiers)

Start:
72,056,789 bp from pter      End:
72,074,428 bp from pter
Size:
17,640 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: THAP2_HUMAN, Q9H0W7 (See protein sequence)
Recommended Name: THAP domain-containing protein 2  
Size: 228 amino acids; 26260 Da
1 PDB 3D structure from and Proteopedia for THAP2:
2D8R (3D)    
Secondary accessions: B2R8P3

Explore the universe of human proteins at neXtProt for THAP2: NX_Q9H0W7

Explore proteomics data for THAP2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys143
  • Modification sites at PhosphoSitePlus

  • See THAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_113623.1  
    ENSEMBL proteins: 
     ENSP00000310796   ENSP00000449826   ENSP00000448904   ENSP00000446986  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    THAP: THAP (C2CH-type zinc finger) domain containing

    2 InterPro protein domains:
     IPR006612 Znf_C2CH
     IPR026521 THAP2

    Graphical View of Domain Structure for InterPro Entry Q9H0W7

    ProtoNet protein and cluster: Q9H0W7

    UniProtKB/Swiss-Prot: THAP2_HUMAN, Q9H0W7
    Similarity: Contains 1 THAP-type zinc finger


    THAP2 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0046872metal ion binding IEA--
         
    THAP2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for THAP2
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    miRTarBase miRNAs that target THAP2:
    hsa-mir-1 (MIRT023630), hsa-mir-124-3p (MIRT022515)

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    Selected qRT-PCR Assays for microRNAs that regulate THAP2 (see all 42):
    hsa-miR-142-5p hsa-miR-3685 hsa-miR-607 hsa-miR-128 hsa-miR-570 hsa-miR-890 hsa-miR-3142 hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidTHAP2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    mitochondrion2
    cytosol1
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--

    THAP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for THAP2
    Interactions:

        Search GeneGlobe Interaction Network for THAP2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for THAP2 (Q9H0W72, 3 ENSP000003107964) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN12Q052092, 3MINT-61769 I2D: score=2 
    UBCENSP000003448184STRING: ENSP00000344818
    VANGL1ENSP000003108004STRING: ENSP00000310800
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for THAP2



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for THAP2 gene: 
    NM_031435.3  

    Unigene Cluster for THAP2:

    THAP domain containing, apoptosis associated protein 2
    Hs.245798  [show with all ESTs]
    Unigene Representative Sequence: NM_031435
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308086(uc001swq.3) ENST00000547843 ENST00000551488 ENST00000551238

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate THAP2 (see all 42):
    hsa-miR-142-5p hsa-miR-3685 hsa-miR-607 hsa-miR-128 hsa-miR-570 hsa-miR-890 hsa-miR-3142 hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidTHAP2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for THAP2
    Predesigned siRNA for gene silencing in human, mouse, rat THAP2
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    GenScript: all cDNA clones in your preferred vector: THAP2 (NM_031435)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat THAP2
    Primer
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    OriGene qPCR primer pairs and template standards for THAP2
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      QuantiTect SYBR Green Assays in human, mouse, rat THAP2
      QuantiFast Probe-based Assays in human, mouse, rat THAP2

    Additional mRNA sequence: 

    AK313452.1 AL136607.1 BC008358.1 CR533485.1 

    6 DOTS entries:

    DT.100729720  DT.437910  DT.40293352  DT.97814562  DT.442262  DT.91706618 

    Selected AceView cDNA sequences (see all 222):

    AA642732 AI740682 AI702876 AW139404 CD742573 AA419390 AA252597 AA255481 
    CD365674 BM728348 AA512902 BP371080 BQ020727 AI208780 BP373217 F32093 
    AI000189 BM852022 AA970093 BC008358 CD364330 Z39825 BP371303 AI224500 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    THAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGTGAAGT
    THAP2 Expression
    About this image

    THAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    THAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.245798
        Custom PCR Arrays for THAP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for THAP2

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for THAP2 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Thap21 , 5 THAP domain containing, apoptosis associated protein more1, 5 90.97(n)1
    89.25(a)1
      10 (63.51 cM)5
    668161  NM_025780.31  NP_080056.11 
     1153699665 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia thap21 THAP domain containing, apoptosis associated protein more 54.26(n)
    43.6(a)
      100380030  XM_002935799.2  XP_002935845.1 


    ENSEMBL Gene Tree for THAP2 (if available)
    TreeFam Gene Tree for THAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for THAP2 gene
    THAP32  THAP12  ENSG000002580642  THAP52  THAP82  
    2 SIMAP similar genes for THAP2 using alignment to 4 protein entries:     THAP2_HUMAN (see all proteins):
    DKFZP564I0422    THAP1

    THAP2 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for THAP2 (see all 230)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424874691,2
    --72059754(+) CTAAAC/TTAAAC 1 -- int10--------
    rs171101411,2
    C,F,H--72059755(+) TAAACT/CAAACC 1 -- int19Minor allele frequency- C:0.03NA NS EA CSA WA 676
    rs1509313731,2
    --72059856(+) CAAGGA/CAAGTC 1 -- int10--------
    rs1900512511,2
    --72060016(+) CCAGTC/GTGGTG 1 -- int10--------
    rs1166240391,2
    F--72060047(+) CACTTC/TGAGAG 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1816334671,2
    C--72060063(+) GGCGGC/GCTGAT 1 -- int10--------
    rs1408747171,2
    C--72060313(+) ACAAAA/CCAAAA 1 -- int10--------
    rs1855648331,2
    C--72060399(+) TCAGAA/CATTTA 1 -- int10--------
    rs1893078201,2
    --72060464(+) AACAAA/GGATTA 1 -- int10--------
    rs171101421,2
    C,F,H--72060466(+) CAAGGA/TTTAAT 1 -- int19Minor allele frequency- T:0.05NA NS EA CSA WA 682

    HapMap Linkage Disequilibrium report for THAP2 (72056789 - 72074428 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for THAP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832451CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing THAP2
    DNA2.0 Custom Variant and Variant Library Synthesis for THAP2

    (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.)
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    OMIM gene information: 612531    OMIM disorders: --


    THAP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): THAP2

    Export disorders for THAP2 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)
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    PubMed articles for THAP2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with THAP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genome Res. 2004)
    2. The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. (PubMed id 12575992)1, 3 Roussigne M....Girard J.P. (Trends Biochem. Sci. 2003)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
    4. The genetic architecture of economic and political preferences. (PubMed id 22566634)1 Benjamin D.J....Visscher P.M. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    6. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (amp 2011)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)1 Colland F....Gauthier J.M. (Genome Res. 2004)
    10. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83591 HGNC: 20854 AceView: TMEM19andDKFZP564I0422 Ensembl:ENSG00000173451 euGenes: HUgn83591
    ECgene: THAP2 H-InvDB: THAP2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for THAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for THAP2 gene:
    Search GeneIP for patents involving THAP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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