ASPM Gene

Name	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
Description	This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ASPM (abnormal spindle‐like microcephaly‐associated) is a centrosomal protein that plays a pivotal role in regulating mitotic spindle organization, cleavage plane orientation, and cytokinesis during cell division. In neural progenitor cells, ASPM localizes to spindle poles—and later to the midbody—thereby ensuring that symmetric, proliferative divisions occur properly, a process that is essential for normal cerebral cortical expansion. Loss‐of‐function or truncating mutations in ASPM lead to defective spindle organization and misoriented cell division, which ultimately culminate in primary microcephaly, a condition characterized by a markedly reduced brain size despite a largely preserved overall brain architecture."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Evolutionary studies further reveal that ASPM has undergone strong positive selection in the primate lineage, suggesting that alterations in its protein domains have contributed to the expansion of the human cerebral cortex."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition to its developmental role, ASPM overexpression has been observed in aggressive cancers such as glioblastoma, where it appears to support tumor cell proliferation and the maintenance of cancer stem cell populations."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n At the molecular level, ASPM interacts with other key regulators of cell division—for example, by participating in complexes with proteins such as CITK at the midbody to additionally mediate cytokinetic abscission."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Moreover, recent data show that ASPM can form a complex with microtubule‐severing enzymes like katanin at spindle poles to regulate microtubule dynamics, thereby linking centrosomal functions to the fine-tuning of the cell cycle."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": " Finally, ASPM has also been implicated in the regulation of genome stability and may indirectly affect pathways such as BRCA1-dependent DNA repair."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " \n "}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the central role of ASPM in neurogenesis—by safeguarding proper spindle function and ensuring balanced progenitor division, ASPM determines brain size, influences neural developmental trajectories, and when dysregulated, contributes to tumorigenesis. Thus, ASPM represents a key molecular hub linking neurodevelopment, evolutionary brain expansion, and cancer biology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}, {"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jacquelyn Bond, Emma Roberts, Ganesh H Mochida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ASPM is a major determinant of cerebral cortical size."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng995"}], "href": "https://doi.org/10.1038/ng995"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12355089"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12355089"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jennifer L Fish, Yoichi Kosodo, Wolfgang Enard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0604066103"}], "href": "https://doi.org/10.1073/pnas.0604066103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16798874"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16798874"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Natalay Kouprina, Adam Pavlicek, N Keith Collins, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddi220"}], "href": "https://doi.org/10.1093/hmg/ddi220"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15972725"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15972725"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "A K Nicholas, E A Swanson, J J Cox, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The molecular landscape of ASPM mutations in primary microcephaly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2008.062380"}], "href": "https://doi.org/10.1136/jmg.2008.062380"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19028728"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19028728"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Nitzan Mekel-Bobrov, Sandra L Gilbert, Patrick D Evans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1116815"}], "href": "https://doi.org/10.1126/science.1116815"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16151010"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16151010"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Natalay Kouprina, Adam Pavlicek, Ganeshwaran H Mochida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Biol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pbio.0020126"}], "href": "https://doi.org/10.1371/journal.pbio.0020126"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15045028"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15045028"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "S Horvath, B Zhang, M Carlson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0608396103"}], "href": "https://doi.org/10.1073/pnas.0608396103"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17090670"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17090670"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Murugan Paramasivam, Yoon Jeung Chang, Joseph J LoTurco "}, {"type": "b", "children": [{"type": "t", "text": "ASPM and citron kinase co-localize to the midbody ring during cytokinesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Cycle (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/cc.6.13.4356"}], "href": "https://doi.org/10.4161/cc.6.13.4356"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17534152"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17534152"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Julie Higgins, Carol Midgley, Anna-Maria Bergh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human ASPM participates in spindle organisation, spindle orientation and cytokinesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cell Biol (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2121-11-85"}], "href": "https://doi.org/10.1186/1471-2121-11-85"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21044324"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21044324"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Kai Jiang, Lenka Rezabkova, Shasha Hua, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microtubule minus-end regulation at spindle poles by an ASPM-katanin complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb3511"}], "href": "https://doi.org/10.1038/ncb3511"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28436967"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28436967"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Xueyan Zhong, Limin Liu, Ailian Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Cycle (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/cc.4.9.2029"}], "href": "https://doi.org/10.4161/cc.4.9.2029"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16123590"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16123590"}]}]}]}
Synonyms	CALMBP1, MCPH5
Proteins	ASPM_HUMAN
NCBI Gene ID	259266
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ASPM has 13,652 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 132 datasets.

Click the + buttons to view associations for ASPM from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ASPM Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ASPM gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ASPM gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ASPM gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ASPM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ASPM gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ASPM gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ASPM gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ASPM gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ASPM gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ASPM gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ASPM gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ASPM gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ASPM protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ASPM gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ASPM gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ASPM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ASPM gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ASPM gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ASPM gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ASPM protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ASPM gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ASPM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ASPM protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ASPM protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ASPM protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ASPM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ASPM protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ASPM gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ASPM gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ASPM gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ASPM gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ASPM gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ASPM protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ASPM gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ASPM gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ASPM gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ASPM gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ASPM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ASPM gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ASPM gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.