MTBP

MDM2 binding protein

Basic information

Region (hg38): 8:120445399-120542133

Links

ENSG00000172167 ∙ NCBI:27085 ∙ OMIM:605927 ∙ HGNC:7417 ∙ Uniprot:Q96DY7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MTBP gene.

• Inborn genetic diseases (25 variants)
• not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTBP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					3	3
missense			24	3	4	31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	3	7

Variants in MTBP

This is a list of pathogenic ClinVar variants found in the MTBP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-120445511-A-G		not specified	Uncertain significance (Feb 27, 2024)
8-120445580-A-G		not specified	Uncertain significance (Sep 27, 2022)
8-120446434-C-A		not specified	Uncertain significance (Dec 28, 2023)
8-120446445-C-G		not specified	Uncertain significance (Jan 02, 2024)
8-120451042-T-C		not specified	Uncertain significance (Jun 30, 2023)
8-120451176-T-G		not specified	Uncertain significance (Jun 14, 2023)
8-120451249-G-A		not specified	Uncertain significance (Feb 21, 2024)
8-120453852-A-G			Benign (Aug 20, 2018)
8-120453883-G-A			Benign (Aug 20, 2018)
8-120455498-A-G			Benign (May 18, 2018)
8-120455560-G-A		not specified	Uncertain significance (Jul 05, 2023)
8-120456573-A-T		not specified	Uncertain significance (Nov 07, 2022)
8-120456659-T-C		not specified	Uncertain significance (Oct 18, 2021)
8-120459231-G-A		not specified	Uncertain significance (Dec 01, 2022)
8-120459280-T-A			Benign (Aug 20, 2018)
8-120459317-A-G		not specified	Uncertain significance (Dec 15, 2023)
8-120459347-A-G		not specified	Uncertain significance (Oct 05, 2021)
8-120463714-C-G		not specified	Uncertain significance (Dec 19, 2023)
8-120470871-C-T		not specified	Uncertain significance (Sep 14, 2022)
8-120470878-A-G		not specified	Likely benign (Mar 04, 2024)
8-120470887-G-C		not specified	Uncertain significance (Jan 03, 2024)
8-120488216-A-G		not specified	Uncertain significance (Feb 13, 2024)
8-120488225-G-A			Benign (Jul 02, 2018)
8-120490555-T-G			Likely benign (Nov 01, 2022)
8-120497425-G-A		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTBP	protein_coding	protein_coding	ENST00000305949	22	96734

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.51e-19	0.385	125607	0	140	125747	0.000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.776	396	442	0.896	0.0000209	5883
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000700	0.000697
Ashkenazi Jewish	0.00533	0.00527
East Asian	0.000119	0.000109
Finnish	0.000511	0.000462
European (Non-Finnish)	0.000375	0.000369
Middle Eastern	0.000119	0.000109
South Asian	0.000557	0.000523
Other	0.000333	0.000326

dbNSFP

Source: dbNSFP

• 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

Haploinsufficiency Scores

• pHI: 0.130
• hipred: Y
• hipred_score: 0.668
• ghis: 0.508

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.164

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mtbp
• Phenotype: neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• 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;negative regulation of mitotic nuclear division
• Cellular component: kinetochore;chromatin