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Aliases for TP53BP2 Gene

Aliases for TP53BP2 Gene

  • Tumor Protein P53 Binding Protein 2 2 3 5
  • Tumor Suppressor P53-Binding Protein 2 3 4
  • Renal Carcinoma Antigen NY-REN-51 3 4
  • P53BP2 3 4
  • 53BP2 3 4
  • ASPP2 3 4
  • BBP 3 4
  • Apoptosis-Stimulating Protein Of P53, 2 3
  • Apoptosis-Stimulating Of P53 Protein 2 3
  • Tumor Protein P53-Binding Protein, 2 2
  • P53-Binding Protein 2 4
  • BCL2-Binding Protein 3
  • Bcl2-Binding Protein 4
  • PPP1R13A 3

External Ids for TP53BP2 Gene

Previous GeneCards Identifiers for TP53BP2 Gene

  • GC01P222570
  • GC01P219863
  • GC01M220469
  • GC01M220942
  • GC01M220274
  • GC01M222034
  • GC01M223967
  • GC01M194580

Summaries for TP53BP2 Gene

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 Chromosome 1Q41-Q42 Deletion Syndrome. Among its related pathways are Regulation of TP53 Activity and Activation of BH3-only proteins. GO annotations related to this gene include identical protein binding and p53 binding. An important paralog of this gene is PPP1R13B.

UniProtKB/Swiss-Prot for TP53BP2 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TP53BP2 Gene

Genomics for TP53BP2 Gene

Regulatory Elements for TP53BP2 Gene

Enhancers for TP53BP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G223722 2 FANTOM5 Ensembl ENCODE dbSUPER 37.8 +120.5 120507 6.1 HDGF ARNT SIN3A FEZF1 ZNF2 FOS SP3 JUNB ZNF592 SREBF1 TP53BP2 CAPN2 RNU6-1248P CAPN8 FBXO28 GC01P223725 LOC105373281
GH01G223825 1.9 FANTOM5 Ensembl ENCODE dbSUPER 33.1 +19.6 19581 2.8 HDGF ZFP64 ZNF2 ZNF766 ZNF416 YY2 JUNB NCOA1 ZNF488 ZNF662 TP53BP2 CICP5 CAPN2 FBXO28 GC01M223821 GC01P223795
GH01G223710 2 FANTOM5 Ensembl ENCODE dbSUPER 27.7 +129.7 129658 11.8 ZFP64 FEZF1 YY1 ZNF143 ZNF548 ZNF263 SP3 ZFP41 MEF2D ZNF610 CICP5 TP53BP2 CAPN2 CAPN8 GTF2IP20 RNU6-1248P NVL FBXO28 GC01P223725 LOC105373281
GH01G223831 1.8 FANTOM5 Ensembl ENCODE dbSUPER 29.8 +11.6 11581 6.8 PKNOX1 ZEB1 ZNF121 ZNF766 GATA2 ZNF366 ZSCAN5C SCRT2 FOS EGR2 TP53BP2 CAPN2 GTF2IP20 NVL CAPN8 FBXO28 GC01M223821
GH01G223774 1.6 FANTOM5 ENCODE dbSUPER 28.1 +70.0 70030 3.5 HDGF PKNOX1 ATF1 CREB3L1 SIN3A TCF12 GATA2 FOS KLF13 CAVIN1 TP53BP2 CAPN2 GTF2IP20 FBXO28 LOC105373041 GC01M223774
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TP53BP2 on UCSC Golden Path with GeneCards custom track

Promoters for TP53BP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020807 481 2601 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 MEF2D ZNF610 GLIS1

Genomic Location for TP53BP2 Gene

Chromosome:
1
Start:
223,779,893 bp from pter
End:
223,845,981 bp from pter
Size:
66,089 bases
Orientation:
Minus strand

Genomic View for TP53BP2 Gene

Genes around TP53BP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TP53BP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TP53BP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TP53BP2 Gene

Proteins for TP53BP2 Gene

  • Protein details for TP53BP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13625-ASPP2_HUMAN
    Recommended name:
    Apoptosis-stimulating of p53 protein 2
    Protein Accession:
    Q13625
    Secondary Accessions:
    • B4DG66
    • Q12892
    • Q86X75
    • Q96KQ3

    Protein attributes for TP53BP2 Gene

    Size:
    1128 amino acids
    Molecular mass:
    125616 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH46150.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH46150.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH58918.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TP53BP2 Gene

    Alternative splice isoforms for TP53BP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TP53BP2 Gene

Post-translational modifications for TP53BP2 Gene

  • Ubiquitination at posLast=152152, isoforms=2, 3224, and isoforms=2, 3234
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TP53BP2 Gene

Domains & Families for TP53BP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13625

UniProtKB/Swiss-Prot:

ASPP2_HUMAN :
  • The ankyrin repeats and the SH3 domain are required for a specific interactions with TP53.
  • Belongs to the ASPP family.
Domain:
  • The ankyrin repeats and the SH3 domain are required for a specific interactions with TP53.
Family:
  • Belongs to the ASPP family.
genes like me logo Genes that share domains with TP53BP2: view

Function for TP53BP2 Gene

Molecular function for TP53BP2 Gene

GENATLAS Biochemistry:
TP53 binding protein 2,cytoplasmic not binding mutant TP53
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Following DNA damage induced by UV irradiation. Down-regulated by wild-type, but not mutant, p53/TP53.

Gene Ontology (GO) - Molecular Function for TP53BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 14985081
GO:0005070 SH3/SH2 adaptor activity TAS 8668206
GO:0005515 protein binding IPI 8875926
GO:0017124 SH3 domain binding IEA --
GO:0042802 identical protein binding IPI 18448430
genes like me logo Genes that share ontologies with TP53BP2: view
genes like me logo Genes that share phenotypes with TP53BP2: view

Animal Models for TP53BP2 Gene

MGI Knock Outs for TP53BP2:

Animal Model Products

CRISPR Products

miRNA for TP53BP2 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TP53BP2 Gene

Localization for TP53BP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TP53BP2 Gene

Cytoplasm, perinuclear region. Nucleus. Note=Predominantly found in the perinuclear region. Some small fraction is nuclear. Sequester in the cytoplasm on overexpression of DDX42.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TP53BP2 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for TP53BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 19377511
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 15782125
GO:0005739 mitochondrion IEA --
GO:0048471 colocalizes_with perinuclear region of cytoplasm IEA,IDA 10646860
genes like me logo Genes that share ontologies with TP53BP2: view

Pathways & Interactions for TP53BP2 Gene

genes like me logo Genes that share pathways with TP53BP2: view

SIGNOR curated interactions for TP53BP2 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for TP53BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007049 cell cycle IEA --
GO:0007165 signal transduction TAS 9748285
GO:0042981 regulation of apoptotic process TAS --
GO:0045786 negative regulation of cell cycle TAS 14729977
genes like me logo Genes that share ontologies with TP53BP2: view

Drugs & Compounds for TP53BP2 Gene

(8) Drugs for TP53BP2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NSC 319726 Pharma Reactivator of mutant p53 0
Pifithrin-α (PFTα) Pharma p53 inhibitor 0
PRIMA-1 Pharma BAX inhibitor 0
PRIMA-1MET Pharma Restore mutant p53 activity, induce BAX and PUMA, Restores mutant p53 activity 0
RG7388 Pharma MDM2 antagonist, oral, selective 0

(1) Additional Compounds for TP53BP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(7) ApexBio Compounds for TP53BP2 Gene

Compound Action Cas Number
NSC 319726 Reactivator of mutant p53 71555-25-4
Pifithrin-α (PFTα) p53 inhibitor 63208-82-2
PRIMA-1 BAX inhibitor 5608-24-2
PRIMA-1MET Restore mutant p53 activity, induce BAX and PUMA 5291-32-7
RG7388 MDM2 antagonist, oral, selective 1229705-06-9
RITA (NSC 652287) Mdm2-p53 interaction and p53 ubiquitination blocking 213261-59-7
Tenovin-1 SIRT2 inhibitor, activates p53 380315-80-0
genes like me logo Genes that share compounds with TP53BP2: view

Drug Products

Transcripts for TP53BP2 Gene

Unigene Clusters for TP53BP2 Gene

Tumor protein p53 binding protein, 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TP53BP2 Gene

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: -

Relevant External Links for TP53BP2 Gene

GeneLoc Exon Structure for
TP53BP2
ECgene alternative splicing isoforms for
TP53BP2

Expression for TP53BP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TP53BP2 Gene

Protein differential expression in normal tissues from HIPED for TP53BP2 Gene

This gene is overexpressed in Spinal cord (39.0) and Testis (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TP53BP2 Gene



Protein tissue co-expression partners for TP53BP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TP53BP2 Gene:

TP53BP2

SOURCE GeneReport for Unigene cluster for TP53BP2 Gene:

Hs.523968

mRNA Expression by UniProt/SwissProt for TP53BP2 Gene:

Q13625-ASPP2_HUMAN
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.

Evidence on tissue expression from TISSUES for TP53BP2 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with TP53BP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TP53BP2 Gene

Orthologs for TP53BP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TP53BP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TP53BP2 34 35
  • 99.06 (n)
cow
(Bos Taurus)
Mammalia TP53BP2 35 34
  • 87.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Trp53bp2 35 16 34
  • 86.73 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tp53bp2 34
  • 86.28 (n)
oppossum
(Monodelphis domestica)
Mammalia TP53BP2 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TP53BP2 35
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TP53BP2 35 34
  • 83.84 (n)
OneToOne
chicken
(Gallus gallus)
Aves TP53BP2 35 34
  • 75.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TP53BP2 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tp53bp2 34
  • 67.77 (n)
Str.15314 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.21747 34
zebrafish
(Danio rerio)
Actinopterygii TP53BP2 (2 of 2) 35
  • 62 (a)
OneToMany
tp53bp2 35 34
  • 61.51 (n)
OneToMany
wufc90h02 34
fruit fly
(Drosophila melanogaster)
Insecta CG18375 36
  • 57 (a)
ASPP 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ape-1 35
  • 27 (a)
ManyToMany
mel-11 35
  • 12 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8965 34
Species where no ortholog for TP53BP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TP53BP2 Gene

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

Paralogs for TP53BP2 Gene

(7) SIMAP similar genes for TP53BP2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TP53BP2: view

Variants for TP53BP2 Gene

Sequence variations from dbSNP and Humsavar for TP53BP2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000024442 -- 223,824,259(+) ACCAA(C/T)AGCTT intron-variant
rs1000160942 -- 223,833,395(+) CGTGA(A/C)GTCTC intron-variant
rs1000204004 -- 223,826,870(+) ATTAA(C/T)AGCAA intron-variant
rs1000204087 -- 223,786,807(+) TTCAC(C/G)ATGTT intron-variant
rs1000291793 -- 223,797,589(+) GTATT(C/T)TGGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TP53BP2 Gene

Variant ID Type Subtype PubMed ID
esv2663989 CNV deletion 23128226
esv2759000 CNV gain+loss 17122850
esv34082 CNV loss 18971310
esv3588963 CNV loss 21293372
esv3588964 CNV loss 21293372
nsv4698 CNV insertion 18451855
nsv832681 CNV gain 17160897

Variation tolerance for TP53BP2 Gene

Residual Variation Intolerance Score: 5.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.72; 66.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TP53BP2 Gene

Human Gene Mutation Database (HGMD)
TP53BP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TP53BP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TP53BP2 Gene

Disorders for TP53BP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TP53BP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 1q41-q42 deletion syndrome
  • 1q41-q42 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TP53BP2

Genetic Association Database (GAD)
TP53BP2
Human Genome Epidemiology (HuGE) Navigator
TP53BP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TP53BP2
genes like me logo Genes that share disorders with TP53BP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TP53BP2 Gene

Publications for TP53BP2 Gene

  1. Two cellular proteins that bind to wild-type but not mutant p53. (PMID: 8016121) Iwabuchi K. … Fields S. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  2. ASPP proteins specifically stimulate the apoptotic function of p53. (PMID: 11684014) Samuels-Lev Y. … Lu X. (Mol. Cell 2001) 3 4 22 64
  3. Aberrant overexpression of 53BP2 mRNA in lung cancer cell lines. (PMID: 10631318) Mori T. … Okamoto T. (FEBS Lett. 2000) 3 4 22 64
  4. 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. (PMID: 10646860) Nakagawa H. … Nakamura Y. (Cancer Res. 2000) 3 4 22 64
  5. Proapoptotic p53-interacting protein 53BP2 is induced by UV irradiation but suppressed by p53. (PMID: 11027272) Lopez C.D. … Naumovski L. (Mol. Cell. Biol. 2000) 3 4 22 64

Products for TP53BP2 Gene

Sources for TP53BP2 Gene

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