Trp53bp2 transformation related protein 53 binding protein 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Trp53bp2provided by MGI
Official Full Name: transformation related protein 53 binding protein 2provided by MGI
Primary source: MGI:MGI:2138319
See related: Ensembl:ENSMUSG00000026510 AllianceGenome:MGI:2138319
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 53BP2; ASPP2; Tp53bp2; PPP1R13A
Summary: Predicted to enable NF-kappaB binding activity; identical protein binding activity; and p53 binding activity. Acts upstream of or within several processes, including embryo development; heart development; and response to ionizing radiation. Predicted to be located in cell junction and cytosol. Predicted to be active in nucleus. Predicted to colocalize with perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study chromosome 1q41-q42 deletion syndrome. Orthologous to human TP53BP2 (tumor protein p53 binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 11.1), CNS E11.5 (RPKM 10.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H5; 1 84.93 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (182236737..182289997)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (182409167..182462436)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulated hepatic lipid metabolism and gut microbiota associated with early-stage NAFLD in ASPP2-deficiency mice.
Title: Dysregulated hepatic lipid metabolism and gut microbiota associated with early-stage NAFLD in ASPP2-deficiency mice.
RDIVpSGP motif of ASPP2 binds to 14-3-3 and enhances ASPP2/k18/14-3-3 ternary complex formulation to promote BRAF/MEK/ERK signal inhibited cell proliferation in hepatocellular carcinoma.
Title: RDIVpSGP motif of ASPP2 binds to 14-3-3 and enhances ASPP2/k18/14-3-3 ternary complex formulation to promote BRAF/MEK/ERK signal inhibited cell proliferation in hepatocellular carcinoma.
ASPP2 reduction attenuates HBV induced chronic liver damage: A hybrid mouse model study.
Title: ASPP2 reduction attenuates HBV induced chronic liver damage: A hybrid mouse model study.
Knockout of ASPP2 promotes DEN-induced hepatocarcinogenesis via the NF-kappaB pathway in mice.
Title: Knockout of ASPP2 promotes DEN-induced hepatocarcinogenesis via the NF-κB pathway in mice.
ASPP2 maintains the integrity of mechanically stressed pseudostratified epithelia during morphogenesis.
Title: ASPP2 maintains the integrity of mechanically stressed pseudostratified epithelia during morphogenesis.
Truncated ASPP2 Drives Initiation and Progression of Invasive Lobular Carcinoma via Distinct Mechanisms.
Title: Truncated ASPP2 Drives Initiation and Progression of Invasive Lobular Carcinoma via Distinct Mechanisms.
hese data suggest that downregulation of ASPP2 can ameliorate Acute kidney injury induced by I/R through activating autophagy, which may provide a novel therapeutic strage for Acute kidney injury.
Title: Deficiency of apoptosis-stimulating protein two of p53 ameliorates acute kidney injury induced by ischemia reperfusion in mice through upregulation of autophagy.
identified a previously unreported Merlin-binding protein, apoptosis-stimulated p53 protein 2 (ASPP2, also called Tp53bp2), that bound to closed-conformation Merlin predominately through the FERM domain.
Title: Proximity biotinylation identifies a set of conformation-specific interactions between Merlin and cell junction proteins.
These results suggest that ASPP2 plays an important role in p53-mediated neuronal apoptosis under gp120 stress.
Title: ASPP2 involvement in p53-mediated HIV-1 envelope glycoprotein gp120 neurotoxicity in mice cerebrocortical neurons.
These findings identify TP53BP2 as a strong candidate causative gene for central nervous system (CNS) defects in 1q41q42 microdeletion syndrome.
Title: ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (8) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Trp53bp2 (e-PCR), detects polymorphism
- UniSTS:516613

AI746547 (e-PCR)
- UniSTS:164142

Tp53bp2 (e-PCR), detects polymorphism
- UniSTS:255286

RH125309 (e-PCR)
- UniSTS:162131

Trp53bp2 (e-PCR), detects polymorphism
- UniSTS:507289

D1Mit360 (e-PCR), detects polymorphism
- UniSTS:128719

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NF-kappaB binding	ISO Inferred from Sequence Orthology more info
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables p53 binding	IBA Inferred from Biological aspect of Ancestor more info
enables p53 binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryo development ending in birth or egg hatching	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of execution phase of apoptosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
colocalizes_with perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: apoptosis-stimulating of p53 protein 2

Names: p53-binding protein 2; p53BP2; tumor protein p53 binding protein, 2; 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.

mRNA and Protein(s)

NM_173378.3 → NP_775554.2 apoptosis-stimulating of p53 protein 2

Status: VALIDATED

Source sequence(s)

AC131742

Consensus CDS

CCDS48476.1

UniProtKB/Swiss-Prot

Q3UYM7, Q8CG79, Q8K2L5

UniProtKB/TrEMBL

E9QJU8

Related

ENSMUSP00000112508.2, ENSMUST00000117245.2

Conserved Domains (5) summary

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 ...

pfam12796
Location:936 → 1022

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:936 → 962

ANK; ANK repeat [structural motif]

cl00155
Location:17 → 90

UBQ; Ubiquitin-like proteins

cl17036
Location:1066 → 1122

SH3; Src Homology 3 domain superfamily