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

TP53BP2 Gene

protein-coding   GIFtS: 61
GCID: GC01M223967

Tumor Protein P53 Binding Protein, 2

(Previous names: tumor protein p53-binding protein, 2)
  See related diseases
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
Tumor Protein P53 Binding Protein, 21 2     P53BP22
ASPP22 3 5     PPP1R13A2
Bcl2-Binding Protein2 3     Apoptosis-Stimulating Of P53 Protein 22
Renal Carcinoma Antigen NY-REN-512 3     Apoptosis-Stimulating Protein Of P53, 22
Tumor Suppressor P53-Binding Protein 22 3     Bbp3
53BP22 3     P53-Binding Protein 23
BBP2 3     p53BP23
Tumor Protein P53-Binding Protein, 21     

External Ids:    HGNC: 120001   Entrez Gene: 71592   Ensembl: ENSG000001435147   OMIM: 6021435   UniProtKB: Q136253   

Export aliases for TP53BP2 gene to outside databases

Previous GC identifers: GC01P222570 GC01P219863 GC01M220469 GC01M220942 GC01M220274 GC01M222034 GC01M194580


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

Entrez Gene summary for TP53BP2 Gene:
This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins.
The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is
localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through
interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TP53BP2 Gene: 
TP53BP2 (tumor protein p53 binding protein, 2) is a protein-coding gene. Diseases associated with TP53BP2 include osteosarcoma, and periodontitis, and among its related super-pathways are Activation of cAMP-Dependent PKA and Beta-Adrenergic Signaling. GO annotations related to this gene include SH3 domain binding and NF-kappaB binding. An important paralog of this gene is PPP1R13B.

UniProtKB/Swiss-Prot: ASPP2_HUMAN, Q13625
Function: Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions.
Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic
genes in vivo. Inhibits the ability of APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1 ability to
induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its
interaction with DDX42

Gene Wiki entry for TP53BP2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TP53BP2 gene promoter:
         STAT1   p53   STAT4   MyoD   STAT1beta   STAT1alpha   RORalpha1   STAT2   STAT3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): TP53BP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TP53BP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TP53BP2


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1q41

TP53BP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TP53BP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M223967:  view genomic region     (about GC identifiers)

Start:
223,967,595 bp from pter      End:
224,033,674 bp from pter
Size:
66,080 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: ASPP2_HUMAN, Q13625 (See protein sequence)
Recommended Name: Apoptosis-stimulating of p53 protein 2  
Size: 1128 amino acids; 125616 Da
Subunit: Binds to the central domain of TP53 as well as to BCL2. Interacts with protein phosphatase 1. Interacts
with RELA NF-kappa-B subunit. This interaction probably prevents the activation of apoptosis, possibly by
preventing its interaction with TP53. Interacts with APC2 and APPBP1. Interacts with DDX42 (via the C-terminus);
the interaction is not inhibited by TP53BP2 ubiquitination and is independent of p53/TP53
Subcellular location: Cytoplasm, perinuclear region. Nucleus. Note=Predominantly found in the perinuclear region.
Some small fraction is nuclear. Sequester in the cytoplasm on overexpression of DDX42
Sequence caution: Sequence=AAH46150.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH46150.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAH58918.2; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for TP53BP2:
1YCS (3D)        2UWQ (3D)        4A63 (3D)    
Secondary accessions: B4DG66 Q12892 Q86X75 Q96KQ3
Alternative splicing: 3 isoforms:  Q13625-1   Q13625-2   Q13625-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TP53BP2: NX_Q13625

Explore proteomics data for TP53BP2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13625

  • TP53BP2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TP53BP2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001026855.2  NP_005417.1  

    ENSEMBL proteins: 
     ENSP00000375750   ENSP00000341957   ENSP00000417174   ENSP00000420225   ENSP00000417987  
     ENSP00000418252   ENSP00000375751  

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    Cloud-Clone Corp. Proteins for TP53BP2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19377511
    GO:0005737cytoplasm TAS15782125
    GO:0048471colocalizes with perinuclear region of cytoplasm IDA10646860

    TP53BP2 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
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    4 InterPro protein domains:
     IPR013315 Spectrin_alpha_SH3
     IPR001452 SH3_domain
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q13625

    ProtoNet protein and cluster: Q13625

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: ASPP2_HUMAN, Q13625
    Domain: The ankyrin repeats and the SH3 domain are required for a specific interactions with TP53
    Similarity: Belongs to the ASPP family
    Similarity: Contains 2 ANK repeats
    Similarity: Contains 1 SH3 domain


    TP53BP2 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: ASPP2_HUMAN, Q13625
    Function: Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions.
    Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic
    genes in vivo. Inhibits the ability of APPBP1 to conjugate NEDD8 to CUL1, and thereby decreases APPBP1 ability to
    induce apoptosis. Impedes cell cycle progression at G2/M. Its apoptosis-stimulating activity is inhibited by its
    interaction with DDX42
    Induction: Following DNA damage induced by UV irradiation. Down-regulated by wild-type, but not mutant, p53/TP53

         Genatlas biochemistry entry for TP53BP2:
    TP53 binding protein 2,cytoplasmic not binding mutant TP53

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005070SH3/SH2 adaptor activity TAS8668206
    GO:0005515protein binding IPI10498867
    GO:0017124SH3 domain binding IEA--
    GO:0042802identical protein binding IPI18448430
    GO:0051059NF-kappaB binding IPI10498867
         
    TP53BP2 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Trp53bp2):
     cellular  craniofacial  embryogenesis  growth/size  immune system 
     mortality/aging  nervous system  renal/urinary system  skeleton  tumorigenesis 
     vision/eye 

    TP53BP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TP53BP2: Trp53bp2tm1Xlu Trp53bp2tm1Cdlo

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    miRTarBase miRNAs that target TP53BP2:
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    hsa-miR-205 hsa-miR-187* hsa-miR-548v hsa-miR-556-3p hsa-miR-222 hsa-miR-221 hsa-miR-500a hsa-miR-616
    SwitchGear 3'UTR luciferase reporter plasmidTP53BP2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TP53BP2


    (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

    SuperPaths for TP53BP2 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Erythropoietin Pathway
    Beta-Adrenergic Signaling0.37
    Insulin Receptor Pathway0.37
    Erythropoietin Pathway0.37
    CDK5 Pathway0.36
    3PEDF Induced Signaling
    IL-6 Pathway0.61
    4Rho Family GTPases
    ERK Signaling0.61
    5Apoptotic Pathways in Synovial Fibroblasts
    eIF2 Pathway0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/14 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TP53BP2 (see all 14)
        Activation of PKA through GPCR
    PKA Signaling
    eIF2 Pathway
    CDK5 Pathway
    Breast Cancer Regulation by Stathmin1

    2 BioSystems Pathways for TP53BP2
        Integrated Pancreatic Cancer Pathway
    Direct p53 effectors


    1         Kegg Pathway  (Kegg details for TP53BP2):
        Hippo signaling pathway


    TP53BP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TP53BP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/77 Interacting proteins for TP53BP2 (Q136251, 2, 3 ENSP000003419574) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2P104152, 3, ENSP000003296234MINT-7235804 MINT-7235946 MINT-7235823 MINT-7236118 MINT-7236102 MINT-7236079 MINT-7236027 MINT-7236042 MINT-7236003 MINT-7235965 MINT-7236061 MINT-7235839 MINT-7235784 I2D: score=4 STRING: ENSP00000329623
    CSNK2BP678702, 3MINT-8253715 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253715 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253715 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253715 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007049cell cycle IEA--
    GO:0007165signal transduction TAS9748285
    GO:0007417central nervous system development IEA--
    GO:0007507heart development IEA--
    GO:0009792embryo development ending in birth or egg hatching IEA--

    TP53BP2 for ontologies           About GeneDecksing



    (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

    TP53BP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TP53BP2 (ASPP2)

    2 Novoseek inferred chemical compound relationships for TP53BP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 6.55 1 11027272 (1)
    alanine 3.44 1 7969167 (1)

    Search CenterWatch for drugs/clinical trials and news about TP53BP2 / ASPP2

    (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 TP53BP2 gene (2 alternative transcripts): 
    NM_001031685.2  NM_005426.2  

    Unigene Cluster for TP53BP2:

    Tumor protein p53 binding protein, 2
    Hs.523968  [show with all ESTs]
    Unigene Representative Sequence: NM_005426
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391878(uc001hod.3) ENST00000343537(uc010puz.2 uc010pva.2 uc010pvb.2)
    ENST00000483398 ENST00000498843 ENST00000494100 ENST00000464656 ENST00000489310
    ENST00000490896 ENST00000481128 ENST00000464172 ENST00000496282 ENST00000473135
    ENST00000465119 ENST00000472180 ENST00000391879
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    Additional mRNA sequence: 

    AJ318888.2 AK294432.1 AK294654.1 AK294964.1 AK295378.1 AK316016.1 AK316103.1 AL357233.1 
    BC040247.1 BC046150.1 BC058918.1 U09582.1 U58334.1 

    11 DOTS entries:

    DT.100815922  DT.217014  DT.40278402  DT.91741350  DT.91815563  DT.95272890  DT.121390879  DT.92426568 
    DT.102832139  DT.40118500  DT.92426567 

    24/183 AceView cDNA sequences (see all 183):

    AI002719 BQ023365 AL120134 AL120805 AU124228 AA961496 AI277217 CB049502 
    AI422603 BI756747 BG611298 AW949402 N29073 T99555 AA312760 BM674332 
    BC040247 AI923880 AA451644 BM479556 BP362957 AL357233 N74243 CA389067 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TP53BP2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                  -           -                                                                                       
    SP2:              -                                   -           -                                                                                       
    SP3:                                                                                                                                                      
    SP4:                                                              -                                                                                       
    SP5:                                                                                                              -                                       


    ECgene alternative splicing isoforms for TP53BP2

    (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

    TP53BP2 expression in normal human tissues (normalized intensities)      TP53BP2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAAAAAAA
    TP53BP2 Expression
    About this image


    TP53BP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/40 selected tissues (see all 40) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             brain/midbrain   
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             bone marrow cd34+   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             lung ; pneumocytes   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   

    See TP53BP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TP53BP2

    SOURCE GeneReport for Unigene cluster: Hs.523968

    UniProtKB/Swiss-Prot: ASPP2_HUMAN, Q13625
    Tissue specificity: Widely expressed. Expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon
    and peripheral blood leukocyte. Reduced expression in breast carcinomas expressing a wild-type TP53 protein.
    Overexpressed in lung cancer cell lines

        SABiosciences Expression via Pathway-Focused PCR Arrays including TP53BP2: 
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              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat

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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 TP53BP2 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Trp53bp21 , 5 transformation related protein 53 binding protein 21, 5 86.73(n)1
    91.17(a)1
      1 (84.93 cM)5
    2094561  NM_173378.21  NP_775554.21 
     1824091725 
    chicken
    (Gallus gallus)
    Aves TP53BP21 tumor protein p53 binding protein, 2 74.88(n)
    81.52(a)
      421329  XM_419394.3  XP_419394.3 
    lizard
    (Anolis carolinensis)
    Reptilia TP53BP26
    tumor protein p53 binding protein, 2
    77(a)
    1 ↔ 1
    1(245133604-245191322)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.217472 Xenopus laevis transcribed sequence with weak similarity more 75.23(n)    CA792216.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc90h022 Transcribed sequence with moderate similarity to protein more 75.78(n)    57058108 


    ENSEMBL Gene Tree for TP53BP2 (if available)
    TreeFam Gene Tree for TP53BP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TP53BP2 gene
    PPP1R13B2  PPP1R16B2  PPP1R12B2  PPP1R12A2  PPP1R16A2  PPP1R12C2  PPP1R13L2  
    7 SIMAP similar genes for TP53BP2 using alignment to 6 protein entries:     ASPP2_HUMAN (see all proteins):
    PPP1R12A    NRARP    PPP1R13B    PPP1R13L    PPP1R27    SH3GL2
    PPP1R12B

    TP53BP2 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

    10/1368 SNPs in TP53BP2 are shown (see all 1368)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs615332511,2
    C--223974283(+) TGTGT-/GTATATT 2 -- int10--------
    rs1128887491,2
    C,F--223974609(+) GGCTTT/CTTTTG 2 -- int12Minor allele frequency- C:0.10WA 120
    rs1381038611,2
    C--223975522(+) TGCAG-/TTGAGC 2 -- int10--------
    rs616846711,2
    C--223975776(+) AATAA-/AAAT  
     A
    /AATAA
    TCACA
    2 -- int10--------
    rs1137017941,2
    C,F--223977858(+) GGGAGG/CCTGAG 2 -- int11Minor allele frequency- C:0.50WA 2
    rs355522561,2
    C--223980565(+) AAAAAA/-GGTCA 2 -- int11Minor allele frequency- -:0.00NA 2
    rs283648031,2
    C--223984306(+) AAAAA-/AGCCCT 2 -- int1 trp33Minor allele frequency- A:0.17MN EA CSA 1254
    rs1395526111,2
    C--223985464(+) TATAT-/AT/TG 
            
    GTGTG
    2 -- int10--------
    rs342878171,2
    C--223985483(+) TGTGT-/GT/TG 
            
    ATATA
    2 -- int11NA 2
    rs566941771,2
    C--223992961(+) AAAAA-/ACCCAC 2 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for TP53BP2 (223967595 - 224033674 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TP53BP2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663989CNV Deletion23128226
    nsv4698CNV Insertion18451855
    esv34082CNV Loss18971310
    nsv832681CNV Gain17160897
    essv335CNV CNV17122850
    dgv182e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602143    OMIM disorders: --

    13 diseases for TP53BP2:    About MalaCards
    osteosarcoma    periodontitis    renal cell carcinoma    hepatitis
    hepatitis c    lung cancer    hepatitis b    gastric cancer
    pancreatic cancer    pancreatitis    breast cancer    prostatitis
    neuronitis


    TP53BP2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TP53BP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteosarcoma 34.6 1 14985081 (1)
    tumors 30 20 19251665 (3), 20034025 (3), 8016121 (2), 15757645 (2) (see all 8)
    cancer 0 3 19251665 (1), 8875926 (1), 10631318 (1)

    Genetic Association Database (GAD): TP53BP2
    Human Genome Epidemiology (HuGE) Navigator: TP53BP2 (5 documents)

    Export disorders for TP53BP2 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 TP53BP2 gene, integrated from 9 sources (see all 104):
    (articles sorted by number of sources associating them with TP53BP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two cellular proteins that bind to wild-type but not mutant p53. (PubMed id 8016121)1, 2, 3, 9 Iwabuchi K....Fields S. (1994)
    2. The p53-binding protein 53BP2 also interacts with Bcl2 and impedes cell cycle progression at G2/M. (PubMed id 8668206)1, 2, 3 Naumovski L. and Cleary M.L. (1996)
    3. Proapoptotic p53-interacting protein 53BP2 is induced by UV irradiation but suppressed by p53. (PubMed id 11027272)1, 2, 9 Lopez C.D.... Naumovski L. (2000)
    4. Aberrant overexpression of 53BP2 mRNA in lung cancer cell lines. (PubMed id 10631318)1, 2, 9 Mori T.... Okamoto T. (2000)
    5. APCL, a central nervous system-specific homologue of adenomatous polyposis coli tumor suppressor, binds to p53-binding protein 2 and translocates it to the perinucleus. (PubMed id 10646860)1, 2, 9 Nakagawa H.... Nakamura Y. (2000)
    6. Structure of the p53 tumor suppressor bound to the ankyrin and SH3 domains of 53BP2. (PubMed id 8875926)1, 2, 9 Gorina S. and Pavletich N.P. (1996)
    7. ASPP proteins specifically stimulate the apoptotic function of p53. (PubMed id 11684014)1, 2, 9 Samuels-Lev Y.... Lu X. (2001)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    10. The DEAD box protein Ddx42p modulates the function of ASPP2, a stimulator of apoptosis. (PubMed id 19377511)1, 2 Uhlmann-Schiffler H....Stahl H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 7159 HGNC: 12000 AceView: TP53BP2 Ensembl:ENSG00000143514 euGenes: HUgn7159
    ECgene: TP53BP2 Kegg: 7159 H-InvDB: TP53BP2

    (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 TP53BP2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TP53BP2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TP53BP2 gene:
    Search GeneIP for patents involving TP53BP2

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



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