MZT2B

mitotic spindle organizing protein 2B

Basic information

Region (hg38): 2:130181736-130190729

Previous symbols: [ "FAM128B" ]

Links

ENSG00000152082 ∙ NCBI:80097 ∙ OMIM:613450 ∙ HGNC:25886 ∙ Uniprot:Q6NZ67 ∙ 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 MZT2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MZT2B 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2		2
Total	0	0	12	2	0

Variants in MZT2B

This is a list of pathogenic ClinVar variants found in the MZT2B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-130182290-C-T		not specified	Uncertain significance (Jul 12, 2022)
2-130182296-G-A		not specified	Uncertain significance (Oct 29, 2021)
2-130182325-C-T		not specified	Uncertain significance (Jun 30, 2023)
2-130182354-G-T		not specified	Uncertain significance (Dec 20, 2023)
2-130182383-G-A		not specified	Uncertain significance (Aug 08, 2023)
2-130182451-A-C		not specified	Uncertain significance (Mar 18, 2024)
2-130182655-G-A		not specified	Uncertain significance (Dec 26, 2023)
2-130182675-C-G		not specified	Uncertain significance (Aug 03, 2022)
2-130182697-G-A		not specified	Uncertain significance (Mar 25, 2024)
2-130182734-C-T		not specified	Uncertain significance (May 30, 2023)
2-130182748-C-T		not specified	Uncertain significance (Mar 31, 2024)
2-130182764-C-T		not specified	Uncertain significance (Oct 06, 2021)
2-130183836-C-G			Likely benign (Jun 01, 2022)
2-130183920-C-G			Likely benign (Jun 01, 2022)
2-130190474-A-G		not specified	Uncertain significance (Apr 08, 2024)
2-130190486-G-A		not specified	Likely benign (Apr 23, 2024)
2-130190504-T-A		not specified	Uncertain significance (Dec 18, 2023)
2-130190531-G-A		not specified	Uncertain significance (Dec 28, 2023)
2-130190555-C-T		not specified	Uncertain significance (May 23, 2024)
2-130190609-A-G		not specified	Uncertain significance (Nov 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MZT2B	protein_coding	protein_coding	ENST00000281871	3	8993

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0613	0.735	124742	0	4	124746	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.351	99	89.7	1.10	0.00000505	978
Missense in Polyphen		24	24.554	0.97746		317
Synonymous	-1.08	50	41.2	1.21	0.00000236	351
Loss of Function	0.829	2	3.73	0.537	1.60e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000627	0.0000626
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000269	0.0000267
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Recruitment of mitotic centrosome proteins and complexes;Centrosome maturation;G2/M Transition;Mitotic G2-G2/M phases;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

• pRec: 0.102

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.474
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Gene ontology

• Cellular component: nucleoplasm;centrosome;spindle;cytosol;gamma-tubulin ring complex
• Molecular function: protein binding