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

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: mouse all
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Genomic context

Location:: 1q41

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (223779893..223845947, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (222969626..223035675, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (223967595..224033649, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Higher TP53BP2 expression is associated with HBsAg loss in peginterferon-alpha-treated patients with chronic hepatitis B.
Title: Higher TP53BP2 expression is associated with HBsAg loss in peginterferon-α-treated patients with chronic hepatitis B.
ASPP2 binds to hepatitis C virus NS5A protein via an SH3 domain/PxxP motif-mediated interaction and potentiates infection.
Title: ASPP2 binds to hepatitis C virus NS5A protein via an SH3 domain/PxxP motif-mediated interaction and potentiates infection.
mRNA sequencing and CyTOF analysis revealed ASPP2 altered the response patterns of hepatocellular carcinoma HepG2 cells to usnic acid.
Title: mRNA sequencing and CyTOF analysis revealed ASPP2 altered the response patterns of hepatocellular carcinoma HepG2 cells to usnic acid.
Alternative splicing of Apoptosis Stimulating Protein of TP53-2 (ASPP2) results in an oncogenic isoform promoting migration and therapy resistance in soft tissue sarcoma (STS).
Title: Alternative splicing of Apoptosis Stimulating Protein of TP53-2 (ASPP2) results in an oncogenic isoform promoting migration and therapy resistance in soft tissue sarcoma (STS).
ASPP2 maintains the integrity of mechanically stressed pseudostratified epithelia during morphogenesis.
Title: ASPP2 maintains the integrity of mechanically stressed pseudostratified epithelia during morphogenesis.
ASPP2 inhibits hepatitis B virus replication by preventing nucleus translocation of HSF1 and attenuating the transactivation of ATG7.
Title: ASPP2 inhibits hepatitis B virus replication by preventing nucleus translocation of HSF1 and attenuating the transactivation of ATG7.
Mir-30b-5p Promotes Proliferation, Migration, and Invasion of Breast Cancer Cells via Targeting ASPP2.
Title: Mir-30b-5p Promotes Proliferation, Migration, and Invasion of Breast Cancer Cells via Targeting ASPP2.
Apoptosis stimulating protein of p53 (ASPP) 1 and ASPP2 m-RNA expression in oral cancer.
Title: Apoptosis stimulating protein of p53 (ASPP) 1 and ASPP2 m-RNA expression in oral cancer.
ASPP2 suppression promotes malignancy via LSR and YAP in human endometrial cancer.
Title: ASPP2 suppression promotes malignancy via LSR and YAP in human endometrial cancer.
ASPP2 inhibits tumor growth by repressing the mevalonate pathway in hepatocellular carcinoma.
Title: ASPP2 inhibits tumor growth by repressing the mevalonate pathway in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (77)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMa312xg5 (e-PCR)
- UniSTS:64573

SHGC-76406 (e-PCR)
- UniSTS:24895

SHGC-76404 (e-PCR)
- UniSTS:75855

SHGC-53868 (e-PCR)
- UniSTS:9814

TP53BP2__5120 (e-PCR)
- UniSTS:466524

D1S3369 (e-PCR)
- UniSTS:1631

RH64652 (e-PCR)
- UniSTS:57472

G62067 (e-PCR)
- UniSTS:139183

SHGC-76405 (e-PCR)
- UniSTS:82619

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
enables p53 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of execution phase of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement 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
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

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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)

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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

NG_029950.1 RefSeqGene

Range

5026..71080

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001031685.3 → NP_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

B4DG66, Q12892, Q13625, Q86X75, Q96KQ3

Related

ENSP00000341957.7, ENST00000343537.12

Conserved Domains (6) summary

cd11953
Location:1066 → 1122

SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2

cd00204
Location:942 → 1053

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:180 → 314

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam12796
Location:936 → 1022

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:936 → 962

ANK; ANK repeat [structural motif]

cl23720
Location:177 → 295

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_005426.3 → NP_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/TrEMBL

Q05BL1

Related

ENSP00000375750.2, ENST00000391878.6

Conserved Domains (6) summary

cd11953
Location:937 → 993

SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2

cd00204
Location:813 → 924

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:51 → 185

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam12796
Location:807 → 893

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:807 → 833

ANK; ANK repeat [structural motif]

cl23720
Location:48 → 166

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

223779893..223845947 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_011542570.1

UniProtKB/TrEMBL

Q05BL1

Conserved Domains (6) summary

cd11953
Location:999 → 1055

SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2

cd00204
Location:875 → 986

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:113 → 247

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam12796
Location:869 → 955

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:869 → 895

ANK; ANK repeat [structural motif]

cl23720
Location:110 → 228

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
XM_047429498.1 → XP_047285454.1 apoptosis-stimulating of p53 protein 2 isoform X1

UniProtKB/Swiss-Prot

B4DG66, Q12892, Q13625, Q86X75, Q96KQ3
XM_011544269.3 → XP_011542571.1 apoptosis-stimulating of p53 protein 2 isoform X3

See identical proteins and their annotated locations for XP_011542571.1

UniProtKB/TrEMBL

Q05BL1

Conserved Domains (6) summary

cd11953
Location:937 → 993

SH3_ASPP2; Src Homology 3 (SH3) domain of Apoptosis Stimulating of p53 protein 2

cd00204
Location:813 → 924

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:51 → 185

CENP-F_leu_zip; Leucine-rich repeats of kinetochore protein Cenp-F/LEK1

pfam12796
Location:807 → 893

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:807 → 833

ANK; ANK repeat [structural motif]

cl23720
Location:48 → 166

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

222969626..223035675 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054338577.1 → XP_054194552.1 apoptosis-stimulating of p53 protein 2 isoform X2

UniProtKB/TrEMBL

Q05BL1
XM_054338576.1 → XP_054194551.1 apoptosis-stimulating of p53 protein 2 isoform X1

UniProtKB/Swiss-Prot

B4DG66, Q12892, Q13625, Q86X75, Q96KQ3
XM_054338578.1 → XP_054194553.1 apoptosis-stimulating of p53 protein 2 isoform X3

UniProtKB/TrEMBL

Q05BL1