SKA2: Spindle and Kinetochore Associated Complex Subunit 2
A key regulator of mitotic chromosome segregation and cell cycle progression
Gene Information Card
| Symbol | SKA2 |
|---|---|
| Full Name | Spindle and Kinetochore Associated Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 348235 ncbi.nlm.nih.gov/gene/348235 |
| Ensembl ID | ENSG00000171219 |
| UniProt ID | Q8WVK7 |
| OMIM ID | 616260 |
| HGNC ID | 28068 |
| Aliases | FAM33A, MGC20446, FLJ22174 |
Description
SKA2 encodes a component of the spindle and kinetochore-associated (SKA) complex, which is essential for proper microtubule attachment to kinetochores during mitosis. The SKA complex stabilizes kinetochore-microtubule interactions and is required for chromosome segregation and cell cycle progression. SKA2 is also implicated in DNA damage response and has been associated with various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SKA2 promotes cell proliferation and migration; associated with poor prognosis | ClinVar, COSMIC |
| Lung cancer | Upregulation linked to tumor growth and metastasis via mitotic dysregulation | COSMIC, NCBI Gene |
| Colorectal cancer | SKA2 amplification contributes to chromosomal instability and aneuploidy | COSMIC, ClinVar |
| Prostate cancer | High expression correlates with aggressive disease and recurrence | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.3 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 2.4 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line; high expression |
| A549 | 10.8 | Lung cancer cell line; moderate expression |
| MCF7 | 9.5 | Breast cancer cell line; moderate expression |
| HEK293 | 6.3 | 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 functional impact; rare in population |
| c.421C>T (p.Arg141Trp) | Missense | 0.005% | Reported in COSMIC; potential loss of function |
| c.538G>A (p.Gly180Arg) | Missense | 0.002% | Found in breast cancer samples; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may disrupt SKA complex assembly or microtubule binding, leading to mitotic errors.
Gain of Function (GOF)
Amplification or overexpression of SKA2 is observed in multiple cancers, potentially enhancing mitotic fidelity and cell survival.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SKA2.
View complete mutation data：
Gene Ontology (GO)
| • chromosome (GO:0000775) | • kinetochore (GO:0000776) |
| • spindle (GO:0005819) | • chromosome segregation (GO:0007059) |
| • cell division (GO:0051301) | • microtubule binding (GO:0008017) |
Pathways
• Cell cycle (KEGG hsa04110)
• Mitotic spindle checkpoint (Reactome R-HSA-69618)
• Chromosome maintenance (Reactome R-HSA-73886)
Protein Summary
SKA2 is a 121-amino acid protein (UniProt Q8WVK7) that forms a heterotrimeric complex with SKA1 and SKA3. The complex localizes to kinetochores from prometaphase through anaphase and is required for stable microtubule attachment and proper chromosome segregation. SKA2 contains a coiled-coil domain that mediates interactions with SKA1 and microtubules. Post-translational modifications include phosphorylation, which regulates complex assembly and function.
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