MTBP
protein-codingMDM2 binding protein
Gene summary
This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~96.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MTBP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_022045.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | 6 | |||
| missense | 98 | 5 | 4 | 107 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 104 | 5 | 7 | 116 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_071328.2 | 22 | MANE Select | |
| Ensembl | ENSP00000303398.1 | 22 | MANE Select | |
| Ensembl | ENSP00000428574.1 | 3 | Standard | |
| Ensembl | ENSP00000430771.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- cell cycle arrest
- traversing start control point of mitotic cell cycle
- negative regulation of cell population proliferation
- regulation of protein ubiquitination
- protein localization to kinetochore
Cellular Component
- kinetochore
- chromatin
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000305949
- Coding exons
- 22
- Length
- 96734
- Individuals with no LoFs
- 125607
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 140
- Defined
- 125747
- p
- 0.000557
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.776 | 396 | 442 | 0.896 | 0.0000209 | 5883 |
| Missense (PolyPhen) | 130 | 136.85 | 0.94992 | 1751 | ||
| Synonymous | -0.0681 | 157 | 156 | 1.01 | 0.00000735 | 1662 |
| Loss of Function | 1.75 | 36 | 49.2 | 0.731 | 0.00000241 | 682 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00049 | 0.00049 | rare |
| Latino/Admixed American | 0.00020 | 0.00020 | rare |
| Ashkenazi Jewish | 0.0053 | 0.0053 | notable |
| East Asian | 0.00012 | 0.00011 | rare |
| Finnish | 0.00051 | 0.00046 | rare |
| European (Non-Finnish) | 0.00038 | 0.00037 | rare |
| South Asian | 0.00056 | 0.00052 | rare |
| Other | 0.00033 | 0.00033 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells (By similarity). May play a role in MDM2-dependent p53/TP53 homeostasis in unstressed cells. Inhibits autoubiquitination of MDM2, thereby enhancing MDM2 stability. This promotes MDM2-mediated ubiquitination of p53/TP53 and its subsequent degradation. {ECO:0000250, ECO:0000269|PubMed:15632057}.;
Recessive Scores
- pRec
- 0.0991
Intolerance Scores
- LoFtool
- 0.174
- RVIS EVS
- 0.83
- RVIS percentile EVS
- 88.09
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- H
- Indispensability pred.
- N
- Indispensability score
- 0.164
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |