TP53BP2 Gene (Protein Coding)

Tumor Protein P53 Binding Protein 2

GC01M223779
GIFtS:
43
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 m... See more...

Aliases for TP53BP2 Gene

Aliases for TP53BP2 Gene

  • Tumor Protein P53 Binding Protein 2 2 3 5
  • 53BP2 2 3 4
  • ASPP2 2 3 4
  • Apoptosis-Stimulating Of P53 Protein 2 3 4
  • Tumor Suppressor P53-Binding Protein 2 3 4
  • Renal Carcinoma Antigen NY-REN-51 3 4
  • PPP1R13A 2 3
  • P53BP2 3 4
  • BBP 3 4
  • Apoptosis-Stimulating Protein Of P53, 2 3
  • Tumor Protein P53-Binding Protein, 2 2
  • P53-Binding Protein 2 4
  • BCL2-Binding Protein 3
  • Bcl2-Binding Protein 4
  • TP53BP2 5
  • Bbp 4

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 and Lung Cancer. Among its related pathways are Beta-Adrenergic Signaling and ERK Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and p53 binding. An important paralog of this gene is PPP1R13B.

UniProtKB/Swiss-Prot Summary for TP53BP2 Gene

  • Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53 (PubMed:12524540). 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

Additional gene information for TP53BP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TP53BP2 Gene

Genomics for TP53BP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TP53BP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J223844 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 271.1 +0.8 753 5.2 ZSCAN16 TBP ZBTB10 MXD4 FEZF1 MNT IKZF1 SMAD5 IRF2 HES1 TP53BP2 CICP5 NVL SEPTIN7P13 CAPN2 FBXO28 CNIH3 WDR26 CNIH4 GTF2IP20
GH01J223935 Promoter 0.5 EPDnew 250.2 -89.8 -89820 0.1 NFRKB POLR2A TP53BP2 piR-30200-005 SEPTIN14P15 FBXO28
GH01J223710 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.7 +129.6 129630 11.8 ZSCAN16 TBP ZBTB10 FEZF1 CEBPA MNT DEK IKZF1 SMAD5 IRF2 CAPN2 CICP5 NVL SEPTIN7P13 TP53BP2 WDR26 CAPN8 FBXO28 RNU6-1248P GTF2IP20
GH01J223722 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 37.8 +120.5 120479 6.1 SP1 BCL11A FEZF1 MNT IKZF1 SMAD5 BHLHE40 ZEB1 ZNF395 ZNF639 TP53BP2 NVL CAPN2 CICP5 RNU6-1248P CAPN8 FBXO28 LOC105373046 HSALNG0010905
GH01J223831 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +12.2 12241 5.4 IKZF1 ZEB1 CEBPB FOSL1 PRDM6 PRDM10 ZNF624 CTCF HDAC2 ZNF24 TP53BP2 NVL CICP5 CAPN2 GTF2IP20 SEPTIN7P13 CAPN8 FBXO28 lnc-CAPN2-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TP53BP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TP53BP2

Top Transcription factor binding sites by QIAGEN in the TP53BP2 gene promoter:
  • MyoD
  • p53
  • Pax-4a
  • RORalpha1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4

Genomic Locations for TP53BP2 Gene

Latest Assembly
chr1:223,779,893-223,845,954
(GRCh38/hg38)
Size:
66,062 bases
Orientation:
Minus strand

Previous Assembly
chr1:223,967,595-224,033,649
(GRCh37/hg19 by Entrez Gene)
Size:
66,055 bases
Orientation:
Minus strand

chr1:223,967,601-224,033,674
(GRCh37/hg19 by Ensembl)
Size:
66,074 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 Structure • Gene Density

RefSeq DNA sequence for TP53BP2 Gene

Proteins for TP53BP2 Gene

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  • 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:
    • Interacts with P53/TP53; the interaction promotes pro-apoptotic activity (PubMed:11684014, PubMed:8016121, PubMed:12524540). Interacts with BCL2 (PubMed:8668206). 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=Extended N-terminus.; 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};
    Miscellaneous:
    • [Isoform 2]: Due to Alu sequence insertion that creates a shorter but existing form that may have an alternative function.

    Three dimensional structures from OCA and Proteopedia for TP53BP2 Gene

    Alternative splice isoforms for TP53BP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TP53BP2 Gene

Protein Expression for TP53BP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TP53BP2 Gene

  • Ubiquitination at Lys152, Lys224, and Lys234
  • Modification sites at PhosphoSitePlus

Other Protein References for TP53BP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TP53BP2 Gene

Domains & Families for TP53BP2 Gene

Gene Families for TP53BP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for TP53BP2 Gene

InterPro:
Blocks:
  • SH3 domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for TP53BP2 Gene

GenScript: Design optimal peptide antigens:
  • Tumor suppressor p53-binding protein 2 (ASPP2_HUMAN)
  • cDNA FLJ50500, highly similar to Apoptosis-stimulating of p53 protein 2 (B7Z2E9_HUMAN)
  • TP53BP2 protein (Q05BL1_HUMAN)

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

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Molecular function for TP53BP2 Gene

UniProtKB/Swiss-Prot Function:
Regulator that plays a central role in regulation of apoptosis and cell growth via its interactions with proteins such as TP53 (PubMed:12524540). 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.
GENATLAS Biochemistry:
TP53 binding protein 2,cytoplasmic not binding mutant TP53

Phenotypes From GWAS Catalog for TP53BP2 Gene

Gene Ontology (GO) - Molecular Function for TP53BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IBA,IPI 14985081
GO:0005515 protein binding IPI 8875926
GO:0017124 SH3 domain binding IEA --
GO:0042802 identical protein binding IPI 18448430
GO:0051059 NF-kappaB binding IPI 10498867
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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TP53BP2

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 5
plasma membrane 3
mitochondrion 3
cytoskeleton 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Cytosol (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TP53BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 19377511
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 15782125
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA --
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

Pathways by source for TP53BP2 Gene

1 BioSystems pathway for TP53BP2 Gene
1 KEGG pathway for TP53BP2 Gene
14 Qiagen pathways for TP53BP2 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Beta-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • cAMP Pathway

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

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(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 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

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Transcripts for TP53BP2 Gene

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mRNA/cDNA for TP53BP2 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TP53BP2

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

Expression for TP53BP2 Gene

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

mRNA expression in normal human tissues for TP53BP2 Gene
mRNA expression by GTEx for TP53BP2 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for TP53BP2 Gene



Protein tissue co-expression partners for TP53BP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Skin(2.2)
  • Intestine(2.2)
  • Kidney(2.2)
  • Liver(2.2)
  • Lung(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with TP53BP2: view

Primer products for research

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 30 31
  • 99.06 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TP53BP2 30 31
  • 87.44 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Trp53bp2 30 17 31
  • 86.73 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tp53bp2 30
  • 86.28 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TP53BP2 31
  • 85 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TP53BP2 31
  • 84 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TP53BP2 30 31
  • 83.84 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves TP53BP2 30 31
  • 75.02 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TP53BP2 31
  • 77 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tp53bp2 30
  • 67.77 (n)
Str.15314 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.21747 30
Zebrafish
(Danio rerio)
 Actinopterygii TP53BP2 (2 of 2) 31
  • 62 (a)
 OneToMany
tp53bp2 30 31
  • 61.51 (n)
 OneToMany
wufc90h02 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG18375 32
  • 57 (a)
ASPP 31
  • 31 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea ape-1 31
  • 27 (a)
 ManyToMany
mel-11 31
  • 12 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 40 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.8965 30
Species where no ortholog for TP53BP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for TP53BP2: view image

Paralogs for TP53BP2 Gene

Paralogs for TP53BP2 Gene

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

  • ASPP2_HUMAN
  • B7Z2E9_HUMAN
  • F8WBY9_HUMAN
  • H0Y847_HUMAN
  • H7C5L8_HUMAN
  • Q05BL1_HUMAN
genes like me logo Genes that share paralogs with TP53BP2: view

Variants for TP53BP2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TP53BP2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs138894446 Benign: not provided 223,796,211(-) G/A
NM_001031685.3(TP53BP2):c.2328C>T (p.Tyr776=) 		SYNONYMOUS
rs140226297 Benign: not provided 223,798,258(-) G/A
NM_001031685.3(TP53BP2):c.1905C>T (p.Ser635=) 		SYNONYMOUS
rs141114880 Benign: not provided 223,798,564(-) G/A
NM_001031685.3(TP53BP2):c.1599C>T (p.Asp533=) 		SYNONYMOUS
rs146508776 Benign: not provided 223,798,456(-) G/A
NM_001031685.3(TP53BP2):c.1707C>T (p.Gly569=) 		SYNONYMOUS
rs150044625 Benign: not provided 223,802,722(-) C/T
NM_001031685.3(TP53BP2):c.996+9G>A 		INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TP53BP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TP53BP2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for TP53BP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TP53BP2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
chromosome 1q41-q42 deletion syndrome
  • holoprosencephaly 10, included; hpe10, included
lung cancer
  • lung cancer, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TP53BP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 23
  2. ASPP proteins specifically stimulate the apoptotic function of p53. (PMID: 11684014) Samuels-Lev Y … Lu X (Molecular cell 2001) 3 4 23
  3. 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 research 2000) 3 4 23
  4. Proapoptotic p53-interacting protein 53BP2 is induced by UV irradiation but suppressed by p53. (PMID: 11027272) Lopez CD … Naumovski L (Molecular and cellular biology 2000) 3 4 23
  5. Aberrant overexpression of 53BP2 mRNA in lung cancer cell lines. (PMID: 10631318) Mori T … Okamoto T (FEBS letters 2000) 3 4 23

ExternalLinks

View latest publications for TP53BP2 gene in Mastermind

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Sources for TP53BP2 Gene