MZT2B - mitotic spindle organizing protein 2B Gene

Homo sapiens

Also known as FAM128B; MOZART2B

Gene ID: 80097 | Gene type: protein coding

About MZT2B

Cytogenetic location: 2q21.1 Genomic coordinates (GRCh38): 2:130,181,654-130,204,793 (from NCBI)

This gene has 9 transcripts (splice variants), 186 orthologues and 1 paralogue. Ubiquitous expression in fat (RPKM 10.8), colon (RPKM 10.5) and 25 other tissues.

Summary

Located in cytosol; microtubule cytoskeleton; and nucleoplasm. Part of gamma-tubulin large complex. [provided by Alliance of Genome Resources, Apr 2022]

MZT2B Products(3)

mRNA	Protein	Name
NM_001330282.2	NP_001317211.1	mitotic-spindle organizing protein 2B isoform 1
NM_001330284.2	NP_001317213.1	mitotic-spindle organizing protein 2B isoform 3
NM_025029.5	NP_079305.2	mitotic-spindle organizing protein 2B isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20360068	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	20360068	GOA
part of gamma-tubulin ring complex	IDA IDA: Inferred from direct assay	20360068	GOA
located in spindle	IDA IDA: Inferred from direct assay	20360068	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MZT2B Protein Structure

MOZART2

0
100
158 a.a.

Protein Preferred Names

Protein Names

mitotic-spindle organizing protein 2B

family with sequence similarity 128, member B

Related Diseases

Diseases

Alias

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Charcot-Marie-Tooth Disease Type 2a2b

Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency	Ar-Cmt2, Ouvrier Type
Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type	Seoan Due To Mfn2 Deficiency
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b	Cmt2a2b
Charcot-Marie-Tooth Disease, Type 2a2b

Clear Cell Meningioma

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6	HSAN6
Hsan Vi	Hereditary Sensory And Autonomic Neuropathy Type Vi
Familial Dysautonomia With Contractures	Neuropathy, Hereditary Sensory And Autonomic, 6
Hereditary Sensory Neuropathy Type Vi	Hsn Vi
Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08978	MZT2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MZT2B	MGD	MGI:1922845

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