MBIP

MAP3K12 binding inhibitory protein 1, the group of ATAC complex

Basic information

Region (hg38): 14:36298564-36320637

Links

ENSG00000151332 ∙ NCBI:51562 ∙ OMIM:609431 ∙ HGNC:20427 ∙ Uniprot:Q9NS73 ∙ 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 MBIP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBIP 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						0
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in MBIP

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

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

Position	Type	Phenotype	Significance	ClinVar
14-36299106-T-C		not specified	Uncertain significance (Nov 18, 2023)
14-36299185-G-T		not specified	Uncertain significance (Nov 15, 2024)
14-36300786-T-A		not specified	Uncertain significance (Feb 05, 2025)
14-36300789-G-A		not specified	Uncertain significance (Oct 04, 2024)
14-36311584-C-T		not specified	Uncertain significance (Sep 27, 2022)
14-36311585-G-A		not specified	Uncertain significance (Nov 29, 2021)
14-36311591-G-A		not specified	Uncertain significance (Feb 17, 2022)
14-36311606-G-T		not specified	Uncertain significance (Aug 20, 2024)
14-36311641-C-T		not specified	Uncertain significance (Sep 10, 2024)
14-36311657-G-A		not specified	Uncertain significance (Feb 03, 2025)
14-36311690-T-C		not specified	Uncertain significance (Dec 07, 2024)
14-36312000-G-A		not specified	Uncertain significance (Jan 18, 2022)
14-36314539-A-G		not specified	Uncertain significance (Jan 17, 2023)
14-36314581-C-T		not specified	Uncertain significance (Jun 22, 2024)
14-36314587-A-C		not specified	Uncertain significance (Aug 27, 2024)
14-36314598-C-T		not specified	Uncertain significance (Dec 21, 2022)
14-36314710-A-T		not specified	Uncertain significance (Feb 16, 2023)
14-36314789-C-G		not specified	Uncertain significance (Jun 28, 2024)
14-36316749-C-T		not specified	Uncertain significance (Jun 12, 2023)
14-36320461-T-G		not specified	Uncertain significance (Mar 03, 2025)
14-36320497-T-C		not specified	Likely benign (Jan 23, 2025)
14-36320557-C-T		not specified	Likely benign (Sep 20, 2023)
14-36320570-G-A		not specified	Uncertain significance (Oct 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBIP	protein_coding	protein_coding	ENST00000416007	9	22113

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000138	0.962	125687	1	60	125748	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.141	170	175	0.970	0.00000837	2251
Missense in Polyphen		65	68.338	0.95115		954
Synonymous	-0.0645	64	63.3	1.01	0.00000324	628
Loss of Function	1.90	11	20.2	0.543	0.00000112	234

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000462	0.000460
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000354	0.000352
Middle Eastern	0.000220	0.000217
South Asian	0.000306	0.000261
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. {ECO:0000269|PubMed:19103755}.
• Pathway: EGF-Ncore;Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization (Consensus)

Recessive Scores

• pRec: 0.0795

Intolerance Scores

• loftool: 0.939
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.0600
• hipred: N
• hipred_score: 0.496
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.941

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mbip

Gene ontology

• Biological process: inactivation of MAPK activity involved in osmosensory signaling pathway;molybdopterin cofactor biosynthetic process;histone H3 acetylation
• Cellular component: nucleus;Ada2/Gcn5/Ada3 transcription activator complex;nucleolus;cytosol
• Molecular function: protein kinase inhibitor activity;protein binding;molybdopterin synthase activity;identical protein binding