ASPM Gene - Abnormal Spindle Microtubule Assembly
Key regulator of mitotic spindle organization and cerebral cortex size
Gene Information Card
| Symbol | ASPM |
|---|---|
| Full Name | Assembly factor for spindle microtubules |
| Gene Type | Protein coding |
| Chromosomal Location | 1q31.3 |
| NCBI Gene ID | 259266 ncbi.nlm.nih.gov/gene/259266 |
| Ensembl ID | ENSG00000066279 |
| UniProt ID | Q8IZT6 |
| OMIM ID | 605481 |
| HGNC ID | 19048 |
| Aliases | MCPH5, ASP, FLJ10517, FLJ43133, KIAA1501 |
Description
The ASPM gene encodes a protein that is essential for normal mitotic spindle function and regulation of neurogenesis. It is predominantly expressed in the developing brain and is required for proper cerebral cortex size. Mutations in ASPM are the most common cause of autosomal recessive primary microcephaly (MCPH5), a condition characterized by reduced head circumference and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 5 (MCPH5) | Loss-of-function mutations impair mitotic spindle assembly in neural progenitors, reducing neuron number | ClinVar, OMIM |
| Autosomal recessive primary microcephaly | Disrupted centrosome and spindle function leads to premature differentiation and reduced cortical surface area | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 6.8 | Medium |
| Lymph node | 2.1 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HeLa (cervical carcinoma) | 8.7 | High expression |
| HEK293 (embryonic kidney) | 4.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3978G>A (p.Trp1326*) | Nonsense | Common in MCPH5 | Loss of function, truncated protein |
| c.9159delC (p.Val3054*) | Frameshift deletion | Rare | Premature stop, loss of C-terminal domain |
| c.7130C>T (p.Thr2377Met) | Missense | Unknown | Potential reduced spindle binding |
Mutation functional classification
Loss of Function (LOF)
Most MCPH5-associated mutations are loss-of-function, leading to truncated or unstable protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; ASPM mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:14797 - Mitotic spindle assembly
• REACT:15330 - Centrosome cycle
• REACT:172623 - Cell cycle
• mitotic
Protein Summary
ASPM is a large protein (3477 amino acids) containing multiple IQ calmodulin-binding domains and a microtubule-binding domain. It localizes to the centrosome and spindle poles during mitosis, where it regulates spindle organization and orientation. In neural progenitor cells, ASPM is critical for symmetric proliferative divisions; its loss leads to premature differentiation and reduced neuron number, resulting in microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPM Knockout HEK293 Cell Line | EDJ-KQ3000 | Human | 259266 | Details Get a Quote |
| ASPM Knockout A-549 Cell Line | EDJ-KQ24198 | Human | 259266 | Details Get a Quote |
| ASPM Knockout HCT 116 Cell Line | EDJ-KQ24199 | Human | 259266 | Details Get a Quote |
| ASPM Knockout HeLa Cell Line | EDJ-KQ24200 | Human | 259266 | Details Get a Quote |
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