Gene
ASPM
assembly factor for spindle microtubules
- HGNC 19048(opens in a new tab)
- Ensembl gene ENSG00000066279(opens in a new tab)
- NCBI Gene 259266(opens in a new tab)
Summary
- Cytogenetic location
- 1q31.3
- Coordinates
- Chromosome 1: 197,084,127–197,146,669 (GRCh38)
- Exons
- 28 exons across 62.5 kb
- Protein
- 3,477 amino acids
- Also known as
- Calmbp1, ASP, FLJ10517, FLJ10549
- Previous symbols
- MCPH5
- MANE Select transcript
- ENST00000367409.9NM_018136.5
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads ASPM yet. The test sequences your whole genome, so your data includes it all the same.
How ASPM is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 10.9 kb of the gene's 62.5 kb; 10,434 of those bases code for the protein.
How a genome test reads ASPM
204
positions in ASPM where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 62.5 kb of ASPM, introns included, not only the 10.9 kb of exons.
Traits linked to ASPM
The Human Phenotype Ontology lists these as features of the rare conditions ASPM can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Intellectual disability
- Lateral ventricle dilatation
- Motor delay
- Simplified gyral pattern
- Global developmental delay
- Gray matter heterotopia
- Intellectual disability, severe
Show 14 more traits
- Agenesis of corpus callosum
- Fewer and broader ridges in brain
- Increased reflexes
- More active than typical
- Underdeveloped frontal lobe
- Ventriculomegaly
- Aggressive behavior
- Cortical dysplasia
- Self-injurious behavior
- Small cerebellum
- Epilepsy
- Attention deficit
- Small cerebral cortex
- Underdevelopment of part of brain called corpus callosum
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ASPM gene: assembly factor for spindle microtubules. Retrieved 17 October 2026, from https://dantelabs.com/genes/aspm
Dante Labs. ASPM gene: assembly factor for spindle microtubules [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/aspm
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