TP53BP2
Tumor Protein p53 Binding Protein 2
Gene Information Card
| Symbol | TP53BP2 |
|---|---|
| Full Name | Tumor Protein p53 Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 7159 ncbi.nlm.nih.gov/gene/7159 |
| Ensembl ID | ENSG00000143514 |
| UniProt ID | Q13625 |
| OMIM ID | 602143 |
| HGNC ID | 12000 |
| Aliases | ASPP2, BBP, p53BP2, PPP1R13A |
Description
TP53BP2 (Tumor Protein p53 Binding Protein 2) encodes a member of the ASPP (apoptosis-stimulating protein of p53) family. The protein binds to the DNA-binding domain of p53 and enhances p53-mediated transcriptional activation of pro-apoptotic genes, thereby promoting apoptosis. It also interacts with other proteins such as BCL2 and NF-κB, and plays roles in cell cycle regulation, DNA damage response, and tumor suppression. Mutations and altered expression of TP53BP2 have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of TP53BP2 expression reduces p53-dependent apoptosis, promoting tumorigenesis | PMID: 12592394 |
| Colorectal cancer | Reduced ASPP2 levels correlate with poor prognosis and increased metastasis | PMID: 17699752 |
| Hepatocellular carcinoma | TP53BP2 downregulation contributes to p53 inactivation and tumor progression | PMID: 21750551 |
| Lung cancer | Mutations in TP53BP2 impair p53 binding and apoptotic function | COSMIC analysis |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 15.2 | Medium |
| Liver | 10.1 | Medium |
| Lung | 9.8 | Low |
| Breast | 14.6 | Medium |
| Colon | 11.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.5 | High expression |
| HCT116 (colorectal cancer) | 14.2 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 12.0 | Medium expression |
| A549 (lung cancer) | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003C>T (p.Arg335Ter) | Nonsense | <1% | Truncation, loss of p53 binding |
| c.1456G>A (p.Glu486Lys) | Missense | <1% | Reduced apoptotic activity |
| c.2020_2021insA | Frameshift | <1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the p53-binding domain lead to loss of pro-apoptotic function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TP53BP2.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type ASPP2 function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• p53 signaling pathway (KEGG: hsa04115)
• Apoptosis (KEGG: hsa04210)
• TP53BP2 regulates p53-dependent apoptosis (Reactome: R-HSA-6804757)
Protein Summary
TP53BP2 encodes ASPP2, a 1128-amino-acid protein containing an ankyrin repeat domain and an SH3 domain. ASPP2 specifically enhances the transactivation function of p53 on pro-apoptotic target genes (e.g., BAX, PIG3) but not on cell-cycle arrest genes (e.g., CDKN1A). It also interacts with BCL2, inhibiting its anti-apoptotic function. ASPP2 is widely expressed in normal tissues but frequently downregulated in cancers, contributing to evasion of apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TP53BP2 Knockout HEK293 Cell Line | EDJ-KQ1381 | Human | 7159 | Details Get a Quote |
| TP53BP2 Knockout A-549 Cell Line | EDJ-KQ19544 | Human | 7159 | Details Get a Quote |
| TP53BP2 Knockout HCT 116 Cell Line | EDJ-KQ20889 | Human | 7159 | Details Get a Quote |
| TP53BP2 Knockout HeLa Cell Line | EDJ-KQ20890 | Human | 7159 | Details Get a Quote |
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