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

Gene ID: 7159, updated on 6-Jan-2019

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
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

Genomic context

See TP53BP2 in Genome Data Viewer
Location:
1q41
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (223779893..223845972, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (223967595..224033674, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene calpain 2 Neighboring gene uncharacterized LOC105373046 Neighboring gene uncharacterized LOC105373041 Neighboring gene prohibitin 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NF-kappaB binding IPI
Inferred from Physical Interaction
more info
PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
p53 binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with 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)

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
    5001..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, ENST00000343537.11
    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_005426.2NP_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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    223779893..223845972 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544268.2XP_011542570.1  apoptosis-stimulating of p53 protein 2 isoform X1

    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_011544269.2XP_011542571.1  apoptosis-stimulating of p53 protein 2 isoform X2

    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)
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