KIF2C
Kinesin Family Member 2C (MCAK) – Microtubule Depolymerase and Mitotic Regulator
Gene Information Card
| Symbol | KIF2C |
|---|---|
| Full Name | Kinesin Family Member 2C |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 11004 ncbi.nlm.nih.gov/gene/11004 |
| Ensembl ID | ENSG00000142945 |
| UniProt ID | Q99661 |
| OMIM ID | 604538 |
| HGNC ID | 6393 |
| Aliases | MCAK, KNSL6, KIF2C |
Description
KIF2C encodes a member of the kinesin-13 family, mitotic centromere-associated kinesin (MCAK), which functions as a microtubule depolymerase. It is essential for proper chromosome segregation, spindle dynamics, and mitotic progression. KIF2C localizes to centromeres and spindle poles, regulating microtubule turnover and correcting erroneous kinetochore-microtubule attachments. Dysregulation of KIF2C is implicated in aneuploidy and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression leads to increased microtubule depolymerization, promoting chromosomal instability and tumor progression. | COSMIC; PMID: 25691885 |
| Colorectal Cancer | Altered KIF2C expression correlates with poor prognosis and aneuploidy. | COSMIC; PMID: 28424480 |
| Lung Cancer | Upregulation associated with aggressive tumor phenotypes and resistance to taxane-based chemotherapy. | COSMIC; PMID: 27323850 |
| Glioblastoma | KIF2C overexpression drives mitotic defects and invasiveness. | COSMIC; PMID: 29533785 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone Marrow | 15.2 | Medium |
| Lymph Node | 12.1 | Medium |
| Brain | 3.4 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.0 | Cervical cancer; high expression |
| MCF7 | 18.5 | Breast cancer; moderate expression |
| A549 | 22.3 | Lung cancer; high expression |
| HCT116 | 25.7 | Colorectal cancer; high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Ser92Phe | Missense | <0.1% (COSMIC) | Altered ATPase activity; potential loss of function |
| p.Arg149Cys | Missense | <0.1% (COSMIC) | Reduced microtubule depolymerization |
| p.Glu302Lys | Missense | <0.1% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the motor domain (e.g., p.Ser92Phe) impair ATPase activity and microtubule depolymerization, leading to mitotic errors.
Gain of Function (GOF)
Not well documented; overexpression in tumors may act as a functional gain by increasing microtubule turnover.
Dominant Negative (DN)
Truncating or severe missense variants could interfere with wild-type MCAK function, but no confirmed dominant-negative mutations are reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • ATP binding |
| • microtubule depolymerization | • mitotic spindle organization |
| • chromosome segregation | • kinetochore localization |
Pathways
• Mitotic Prometaphase
• Resolution of Sister Chromatid Cohesion
• Microtubule-dependent transport
Protein Summary
KIF2C (MCAK) is a 725-amino acid protein with an N-terminal motor domain, a central neck region, and a C-terminal domain. It uses ATP hydrolysis to depolymerize microtubules from both ends, crucial for correcting improper kinetochore attachments. MCAK is regulated by phosphorylation (e.g., by Aurora B kinase) and localizes to centromeres and spindle poles. Its activity is essential for accurate chromosome segregation and genomic stability.
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