MZT2A: Mitotic Spindle Organizing Protein 2A
A key regulator of centrosome duplication and mitotic spindle assembly, implicated in cell cycle control and cancer.
Gene Information Card
| Symbol | MZT2A |
|---|---|
| Full Name | Mitotic Spindle Organizing Protein 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 2q21.1 |
| NCBI Gene ID | 100131755 ncbi.nlm.nih.gov/gene/100131755 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q6P1M0 |
| OMIM ID | 618224 |
| HGNC ID | 34345 |
| Aliases | MZT2, C2orf86, MGC16384 |
Description
MZT2A encodes a component of the gamma-tubulin ring complex (γ-TuRC), which is essential for microtubule nucleation and organization at centrosomes. The protein localizes to centrosomes and the mitotic spindle, playing a critical role in centrosome duplication, spindle assembly, and chromosome segregation during mitosis. MZT2A is widely expressed and its dysregulation is linked to genomic instability and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of MZT2A disrupts centrosome number control, leading to multipolar spindles and aneuploidy | COSMIC; PMID: 25686125 |
| Colorectal cancer | MZT2A amplification correlates with poor prognosis and increased mitotic errors | COSMIC; PMID: 27397505 |
| Lung cancer | Altered MZT2A expression contributes to centrosome amplification and tumor progression | COSMIC; PMID: 28753428 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Lymph node | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line; high expression |
| MCF7 | 14.7 | Breast cancer cell line; moderate expression |
| A549 | 12.1 | Lung cancer cell line; moderate expression |
| HEK293 | 9.8 | Embryonic kidney; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown; likely benign |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.523_524insA | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) are predicted to cause loss of function by truncating the protein, impairing γ-TuRC assembly.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MZT2A.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg138Trp) may act in a dominant-negative manner by disrupting protein-protein interactions within the γ-TuRC.
View complete mutation data：
Gene Ontology (GO)
| • microtubule nucleation | • centrosome duplication |
| • mitotic spindle organization | • gamma-tubulin complex |
| • cell cycle |
Pathways
• Cell Cycle
• Mitotic
• Centrosome maturation
• Gamma-tubulin ring complex assembly
Protein Summary
MZT2A is a 25 kDa protein that localizes to centrosomes and the mitotic spindle. It contains a conserved MZT2 domain that mediates interaction with gamma-tubulin and other γ-TuRC components. The protein is essential for proper microtubule nucleation and spindle pole integrity. Post-translational modifications include phosphorylation during mitosis, which regulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MZT2A Knockout HEK293 Cell Line | EDJ-KQ14352 | Human | 653784 | Details Get a Quote |
| MZT2A Knockout A-549 Cell Line | EDJ-KQ44469 | Human | 653784 | Details Get a Quote |
| MZT2A Knockout HCT 116 Cell Line | EDJ-KQ44470 | Human | 653784 | Details Get a Quote |
| MZT2A Knockout HeLa Cell Line | EDJ-KQ44471 | Human | 653784 | Details Get a Quote |
