MTBP (MDM2 Binding Protein)
A regulator of MDM2 stability and cell cycle progression, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | MTBP |
|---|---|
| Full Name | MDM2 Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.12 |
| NCBI Gene ID | 51585 ncbi.nlm.nih.gov/gene/51585 |
| Ensembl ID | ENSG00000172167 |
| UniProt ID | Q96DY7 |
| OMIM ID | 606180 |
| HGNC ID | 7419 |
| Aliases | Mdm2 binding protein, Mdm2bp, 2310008M10Rik |
Description
MTBP encodes a protein that binds to MDM2, a negative regulator of the tumor suppressor TP53. MTBP modulates MDM2 stability and activity, thereby influencing TP53-dependent cell cycle arrest and apoptosis. It is involved in DNA replication licensing and is overexpressed in several cancers, where it may contribute to tumorigenesis by promoting cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of MTBP leads to increased MDM2-mediated degradation of TP53, impairing apoptosis and promoting cell survival. | COSMIC; multiple studies |
| Developmental disorders (potential) | Homozygous knockout in mice is embryonic lethal; human variants may contribute to congenital anomalies. | OMIM #606180; mouse model data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 3.1 | Low |
| Liver | 2.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| MCF7 | 12.1 | Breast cancer cell line |
| A549 | 11.4 | Lung cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cell line |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown; predicted damaging by in silico tools |
| c.1456C>T (p.Arg486Trp) | Missense | <0.1% | Unknown; predicted benign |
| Amplification | Copy number gain | Variable | Increased MTBP expression; observed in breast and ovarian cancers |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; homozygous knockout in mice is lethal, suggesting essential function.
Gain of Function (GOF)
Overexpression in cancer leads to increased MDM2 binding and TP53 degradation, promoting cell proliferation.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04115: p53 signaling pathway
• hsa04110: Cell cycle
• hsa05200: Pathways in cancer
Protein Summary
The MTBP protein (UniProt Q96DY7) is a 904-amino acid nuclear and cytoplasmic protein that directly interacts with MDM2. It stabilizes MDM2 by inhibiting its self-ubiquitination, leading to enhanced degradation of TP53. MTBP also participates in DNA replication licensing by associating with the origin recognition complex (ORC). Its overexpression is oncogenic, while its loss is detrimental to normal development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTBP Knockout HEK293 Cell Line | EDJ-KQ51201 | Human | 27085 | Details Get a Quote |
| MTBP Knockout HeLa Cell Line | EDJ-KQ55995 | Human | 27085 | Details Get a Quote |
| MTBP Knockout A-549 Cell Line | EDJ-KQ64483 | Human | 27085 | Details Get a Quote |
| MTBP Knockout HCT 116 Cell Line | EDJ-KQ72938 | Human | 27085 | Details Get a Quote |
