MZB1

marginal zone B and B1 cell specific protein

Basic information

Region (hg38): 5:139387467-139390081

Links

ENSG00000170476 ∙ NCBI:51237 ∙ OMIM:609447 ∙ HGNC:30125 ∙ Uniprot:Q8WU39 ∙ 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 MZB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MZB1 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				2		2
missense			12	3	1	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	5	1

Variants in MZB1

This is a list of pathogenic ClinVar variants found in the MZB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-139387768-G-C			Likely benign (Mar 01, 2023)
5-139387792-C-A		not specified	Uncertain significance (Dec 22, 2023)
5-139387868-T-G		not specified	Uncertain significance (Jun 30, 2024)
5-139387920-G-A		not specified	Uncertain significance (Jun 04, 2024)
5-139388042-G-A		not specified	Uncertain significance (Mar 21, 2023)
5-139388099-C-T		not specified	Likely benign (Oct 03, 2023)
5-139388114-A-C		not specified	Uncertain significance (Oct 20, 2023)
5-139388120-C-T		not specified	Likely benign (Aug 05, 2024)
5-139388127-C-T		not specified	Uncertain significance (Jun 16, 2023)
5-139388473-C-T		not specified	Likely benign (Jun 05, 2024)
5-139388495-C-A		not specified	Uncertain significance (Dec 01, 2022)
5-139388513-C-T		not specified	Uncertain significance (Aug 07, 2024)
5-139388527-C-T		not specified	Uncertain significance (Mar 31, 2022)
5-139389712-G-A		not specified	Uncertain significance (Nov 13, 2024)
5-139389759-T-G		not specified	Uncertain significance (Nov 03, 2023)
5-139389783-G-A		not specified	Uncertain significance (Mar 06, 2023)
5-139389807-A-G			Benign (Dec 11, 2017)
5-139389832-G-A			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MZB1	protein_coding	protein_coding	ENST00000302125	4	2602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000316	0.600	124470	0	14	124484	0.0000562

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.413	90	102	0.885	0.00000572	1149
Missense in Polyphen		32	34.053	0.9397		439
Synonymous	0.346	40	42.9	0.933	0.00000234	396
Loss of Function	0.605	6	7.83	0.767	3.93e-7	87

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000668	0.0000668
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000607	0.0000556
Finnish	0.0000501	0.0000464
European (Non-Finnish)	0.0000695	0.0000621
Middle Eastern	0.0000607	0.0000556
South Asian	0.0000734	0.0000654
Other	0.000176	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation. {ECO:0000250, ECO:0000269|PubMed:11350957, ECO:0000269|PubMed:21688198}.

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.354
• ghis: 0.544

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mzb1

Gene ontology

• Biological process: positive regulation of immunoglobulin biosynthetic process;apoptotic process;positive regulation of cell population proliferation;regulation of B cell proliferation;integrin activation;regulation of cell population proliferation;regulation of insulin receptor signaling pathway
• Cellular component: extracellular region;endoplasmic reticulum lumen;endoplasmic reticulum chaperone complex