Human Gene TP53BP2 (ENST00000343537.12_7) from GENCODE V47lift37
  Description: tumor protein p53 binding protein 2, transcript variant 1 (from RefSeq NM_001031685.3)
Gencode Transcript: ENST00000343537.12_7
Gencode Gene: ENSG00000143514.18_12
Transcript (Including UTRs)
   Position: hg19 chr1:223,967,595-224,033,649 Size: 66,055 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr1:223,968,555-224,033,382 Size: 64,828 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:223,967,595-224,033,649)mRNA (may differ from genome)Protein (1134 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ASPP2_HUMAN
DESCRIPTION: RecName: Full=Apoptosis-stimulating of p53 protein 2; AltName: Full=Bcl2-binding protein; Short=Bbp; AltName: Full=Renal carcinoma antigen NY-REN-51; AltName: Full=Tumor suppressor p53-binding protein 2; Short=53BP2; Short=p53-binding protein 2; Short=p53BP2;
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.
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.
INTERACTION: P05067:APP; NbExp=3; IntAct=EBI-77642, EBI-77613; P35569:Irs1 (xeno); NbExp=2; IntAct=EBI-287091, EBI-400825; P35570:Irs1 (xeno); NbExp=4; IntAct=EBI-287091, EBI-520230; Q04206:RELA; NbExp=6; IntAct=EBI-287091, EBI-73886;
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.
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.
INDUCTION: Following DNA damage induced by UV irradiation. Down- regulated by wild-type, but not mutant, p53/TP53.
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.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TP53BP2
Diseases sorted by gene-association score: chromosome 1q41-q42 deletion syndrome (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.53 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 481.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -135.90267-0.509 Picture PostScript Text
3' UTR -223.60960-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR001452 - SH3_domain
IPR013315 - Spectrin_alpha_SH3

Pfam Domains:
PF00018 - SH3 domain
PF00023 - Ankyrin repeat
PF07653 - Variant SH3 domain
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)
PF14604 - Variant SH3 domain

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
50044 - SH3-domain
54236 - Ubiquitin-like
48403 - Ankyrin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1YCS - X-ray 2UWQ - NMR MuPIT 4A63 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13625
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002039 p53 binding
GO:0005070 SH3/SH2 adaptor activity
GO:0005515 protein binding
GO:0017124 SH3 domain binding
GO:0042802 identical protein binding
GO:0051059 NF-kappaB binding

Biological Process:
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0007165 signal transduction
GO:0042981 regulation of apoptotic process
GO:0045786 negative regulation of cell cycle
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
GO:1900119 positive regulation of execution phase of apoptosis
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
GO:1901216 positive regulation of neuron death
GO:1901796 regulation of signal transduction by p53 class mediator

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0030054 cell junction
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  HH837074 - Sequence 1 from Patent EP2231168.
HH837075 - Sequence 2 from Patent EP2231168.
HI214715 - Sequence 1 from Patent EP2076526.
HI214716 - Sequence 2 from Patent EP2076526.
HV601517 - JP 2011500003-A/1: Novel siRNA Structures.
HV601518 - JP 2011500003-A/2: Novel siRNA Structures.
HV708908 - JP 2012506450-A/6: Methods for treating eye disorders.
HV708909 - JP 2012506450-A/7: Methods for treating eye disorders.
HV856590 - JP 2010507387-A/1: Novel siRNAs and Methods of Use Thereof.
HV856591 - JP 2010507387-A/2: Novel siRNAs and Methods of Use Thereof.
HW061128 - JP 2012529430-A/3: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061129 - JP 2012529430-A/4: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW165077 - JP 2013102767-A/1: Novel siRNA's and Use Thereof.
HW165078 - JP 2013102767-A/2: Novel siRNA's and Use Thereof.
HW675585 - JP 2014210789-A/1: Novel siRNA Structures.
HW675586 - JP 2014210789-A/2: Novel siRNA Structures.
HW835273 - JP 2015051004-A/1: Novel siRNA's and Use Thereof.
HW835274 - JP 2015051004-A/2: Novel siRNA's and Use Thereof.
JA538116 - Sequence 1 from Patent EP2371958.
JA538117 - Sequence 2 from Patent EP2371958.
JB251936 - Sequence 3 from Patent EP2440214.
JB251937 - Sequence 4 from Patent EP2440214.
LP764835 - Sequence 3 from Patent EP3276004.
LP764836 - Sequence 4 from Patent EP3276004.
BC058918 - Homo sapiens tumor protein p53 binding protein, 2, mRNA (cDNA clone MGC:65089 IMAGE:4537206), complete cds.
AJ318888 - Homo sapiens mRNA for ASPP2 protein.
U58334 - Human Bcl2, p53 binding protein Bbp/53BP2 (BBP/53BP2) mRNA, complete cds.
AK294432 - Homo sapiens cDNA FLJ61231 complete cds, highly similar to Apoptosis-stimulating of p53 protein 2.
AB384887 - Synthetic construct DNA, clone: pF1KB4032, Homo sapiens TP53BP2 gene for tumor protein p53 binding protein, 2, complete cds, without stop codon, in Flexi system.
BC046150 - Homo sapiens tumor protein p53 binding protein, 2, mRNA (cDNA clone IMAGE:5785307), partial cds.
BC040247 - Homo sapiens tumor protein p53 binding protein, 2, mRNA (cDNA clone MGC:21228 IMAGE:4454266), complete cds.
U09582 - Human clone 53BP2 p53-binding protein mRNA, partial cds.
DM110838 - Novel Cancer Marker and Use Thereof.
JD267068 - Sequence 248092 from Patent EP1572962.
JD038857 - Sequence 19881 from Patent EP1572962.
AK295378 - Homo sapiens cDNA FLJ51856 complete cds, highly similar to Apoptosis-stimulating of p53 protein 2.
AK294654 - Homo sapiens cDNA FLJ50500 complete cds, highly similar to Apoptosis-stimulating of p53 protein 2.
JD091715 - Sequence 72739 from Patent EP1572962.
JD530093 - Sequence 511117 from Patent EP1572962.
JD336387 - Sequence 317411 from Patent EP1572962.
JD566963 - Sequence 547987 from Patent EP1572962.
AK316016 - Homo sapiens cDNA, FLJ78915 complete cds, highly similar to Apoptosis-stimulating of p53 protein 2.
AK294964 - Homo sapiens cDNA FLJ50513 complete cds, highly similar to Apoptosis-stimulating of p53 protein 2.
AK316103 - Homo sapiens cDNA, FLJ79002 complete cds, highly similar to Apoptosis-stimulating of p53 protein 2.
AL357233 - Homo sapiens EST from clone 985864, 5' end.
JD373469 - Sequence 354493 from Patent EP1572962.
JD270248 - Sequence 251272 from Patent EP1572962.
JD459136 - Sequence 440160 from Patent EP1572962.
JD458528 - Sequence 439552 from Patent EP1572962.
JD200354 - Sequence 181378 from Patent EP1572962.
JD056235 - Sequence 37259 from Patent EP1572962.
JD458584 - Sequence 439608 from Patent EP1572962.
JD129491 - Sequence 110515 from Patent EP1572962.
JD440982 - Sequence 422006 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13625 (Reactome details) participates in the following event(s):

R-HSA-6799777 TP53 family members bind PPP1R13B or TP53BP2
R-HSA-3700981 TP53 family members bind the BAX promoter
R-HSA-4331340 TP53 binds the BBC3 (PUMA) promoter
R-HSA-6799462 TP53 family members bind the TP53I3 (PIG3) gene promoter
R-HSA-6799815 TP53 family members bind the FAS gene
R-HSA-6804759 Regulation of TP53 Activity through Association with Co-factors
R-HSA-6803204 TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-139915 Activation of PUMA and translocation to mitochondria
R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
R-HSA-6803211 TP53 Regulates Transcription of Death Receptors and Ligands
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes
R-HSA-114452 Activation of BH3-only proteins
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-212436 Generic Transcription Pathway
R-HSA-109581 Apoptosis
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-5357801 Programmed Cell Death
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ASPP2, ASPP2_HUMAN, B4DG66, BBP, ENST00000343537.1, ENST00000343537.10, ENST00000343537.11, ENST00000343537.2, ENST00000343537.3, ENST00000343537.4, ENST00000343537.5, ENST00000343537.6, ENST00000343537.7, ENST00000343537.8, ENST00000343537.9, NM_001031685, Q12892, Q13625, Q86X75, Q96KQ3, uc317wrh.1, uc317wrh.2
UCSC ID: ENST00000343537.12_7
RefSeq Accession: NM_001031685.3
Protein: Q13625 (aka ASPP2_HUMAN or ASP2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.