SPC24
SPC24 Component of NDC80 Kinetochore Complex
Gene Information Card
| Symbol | SPC24 |
|---|---|
| Full Name | SPC24 component of NDC80 kinetochore complex |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 147841 ncbi.nlm.nih.gov/gene/147841 |
| Ensembl ID | ENSG00000130176 |
| UniProt ID | Q8NBT2 |
| OMIM ID | 609394 |
| HGNC ID | 26913 |
| Aliases | SPC24, hSPC24, NDC80 kinetochore complex component |
Description
SPC24 encodes a component of the NDC80 kinetochore complex, which is essential for proper chromosome segregation during mitosis. The complex mediates microtubule attachment to kinetochores and is required for spindle checkpoint signaling. SPC24 is widely expressed and its dysregulation is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of SPC24 promotes mitotic defects and aneuploidy | PMID: 25605274 |
| Lung adenocarcinoma | SPC24 upregulation correlates with poor prognosis and tumor progression | PMID: 30967553 |
| Hepatocellular carcinoma | SPC24 knockdown reduces cell proliferation and induces apoptosis | PMID: 29445143 |
| Colorectal cancer | SPC24 overexpression associated with chromosomal instability | PMID: 27565994 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| A549 | 10.5 | Lung cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.214C>T | Nonsense | 0.005% | p.Arg72*; premature truncation |
| c.389A>G | Missense | 0.02% | p.Asn130Ser; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein likely impair kinetochore assembly and chromosome segregation.
Gain of Function (GOF)
Not well characterized; overexpression in tumors may confer a proliferative advantage.
Dominant Negative (DN)
Not reported for SPC24.
View complete mutation data：
Gene Ontology (GO)
| • kinetochore (GO:0000776) | • condensed chromosome kinetochore (GO:0000777) |
| • spindle (GO:0005819) | • chromosome segregation (GO:0007059) |
| • microtubule binding (GO:0008017) | • cell division (GO:0051301) |
Pathways
• Cell cycle - Homo sapiens (hsa04110)
• Oocyte meiosis - Homo sapiens (hsa04114)
• Progesterone-mediated oocyte maturation - Homo sapiens (hsa04914)
Protein Summary
SPC24 is a 197-amino-acid protein that forms part of the NDC80 complex, which is critical for stable microtubule-kinetochore attachment. The protein localizes to kinetochores during mitosis and is essential for spindle checkpoint activation. Structural studies show that SPC24 interacts with SPC25 to form a coiled-coil dimer that bridges the NDC80 complex to the kinetochore.
Related Services
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