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    TP53BP2 tumor protein p53 binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 7159, updated on 23-Sep-2022

    Summary

    Official Symbol
    TP53BP2provided by HGNC
    Official Full Name
    tumor protein p53 binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:12000
    See related
    Ensembl:ENSG00000143514 MIM:602143; AllianceGenome:HGNC:12000
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBP; 53BP2; ASPP2; P53BP2; PPP1R13A
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 18.6), brain (RPKM 14.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TP53BP2 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (223779893..223845947, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (222969626..223035675, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (223967595..224033649, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene calpain 2 Neighboring gene Sharpr-MPRA regulatory region 3187 Neighboring gene uncharacterized LOC105373041 Neighboring gene PHB1 pseudogene 11 Neighboring gene ACTB pseudogene 11

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NF-kappaB binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables p53 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    apoptosis-stimulating of p53 protein 2
    Names
    BCL2-binding protein
    apoptosis-stimulating protein of p53, 2
    renal carcinoma antigen NY-REN-51
    tumor suppressor p53-binding protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029950.1 RefSeqGene

      Range
      5026..71080
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031685.3NP_001026855.2  apoptosis-stimulating of p53 protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001026855.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1), also known as 53BP2L or long.
      Source sequence(s)
      AA961496, AI042183, BC058918, BX425756
      Consensus CDS
      CCDS44319.1
      UniProtKB/Swiss-Prot
      Q13625
      Related
      ENSP00000341957.7, ENST00000343537.12
      Conserved Domains (6) summary
      cd11953
      Location:10661122
      SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2
      cd00204
      Location:9421053
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam10473
      Location:180314
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam12796
      Location:9361022
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:936962
      ANK; ANK repeat [structural motif]
      cl23720
      Location:177295
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. NM_005426.3NP_005417.1  apoptosis-stimulating of p53 protein 2 isoform 2

      See identical proteins and their annotated locations for NP_005417.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon and uses a downstream start codon, compared to variant 1. Isoform 2, also known as 53BP2S or short, has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA961496, AI042183, BC058918, BX425756, U58334
      Consensus CDS
      CCDS1538.1
      UniProtKB/Swiss-Prot
      Q13625
      Related
      ENSP00000375750.2, ENST00000391878.6
      Conserved Domains (6) summary
      cd11953
      Location:937993
      SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2
      cd00204
      Location:813924
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam10473
      Location:51185
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam12796
      Location:807893
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:807833
      ANK; ANK repeat [structural motif]
      cl23720
      Location:48166
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      223779893..223845947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544268.3XP_011542570.1  apoptosis-stimulating of p53 protein 2 isoform X2

      See identical proteins and their annotated locations for XP_011542570.1

      Conserved Domains (6) summary
      cd11953
      Location:9991055
      SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2
      cd00204
      Location:875986
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam10473
      Location:113247
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam12796
      Location:869955
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:869895
      ANK; ANK repeat [structural motif]
      cl23720
      Location:110228
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
    2. XM_047429498.1XP_047285454.1  apoptosis-stimulating of p53 protein 2 isoform X1

    3. XM_011544269.3XP_011542571.1  apoptosis-stimulating of p53 protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011542571.1

      UniProtKB/Swiss-Prot
      Q13625
      Conserved Domains (6) summary
      cd11953
      Location:937993
      SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2
      cd00204
      Location:813924
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam10473
      Location:51185
      CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
      pfam12796
      Location:807893
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:807833
      ANK; ANK repeat [structural motif]
      cl23720
      Location:48166
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      222969626..223035675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)