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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ASPM
assembly factor for spindle microtubules
Chromosome 1 Β· 1q31.3
NCBI Gene: 259266Ensembl: ENSG00000066279.20HGNC: HGNC:19048UniProt: B3KWI2
156PubMed Papers
21Diseases
0Drugs
349Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule minus-endnucleusspindle organizationmitotic spindle poleautosomal recessive primary microcephalygenetic disordermicrocephaly 1, primary, autosomal recessivemacular degeneration
✦AI Summary

ASPM (assembly factor for spindle microtubules) is a mitotic protein essential for proper spindle organization and cell cycle progression. The protein functions primarily during mitosis by regulating microtubule dynamics at spindle poles, including spindle orientation, astral microtubule density, and poleward microtubule flux through association with the katanin complex 1. ASPM enhances microtubule lattice severing activity by recruiting the katanin complex to microtubules and can block microtubule minus-end growth 1. Beyond its mitotic roles, ASPM promotes DNA repair by facilitating homologous recombination and plays a critical role in replication stress response by promoting ATR-CHK1 activation and stabilizing stalled replication forks 2. The protein is enriched at stalled replication forks in a RAD17-dependent manner and promotes RAD9 and TopBP1 loading onto chr1 2. ASPM expression is frequently upregulated in various cancers including lung adenocarcinoma, pancreatic adenosquamous carcinoma, and bladder cancer, where it serves as a potential biomarker for poor prognosis 345. Mutations in ASPM cause primary autosomal recessive microcephaly-5 (MCPH5), emphasizing its crucial role in neural stem cell division and brain development 6.

Sources cited
1
ASPM regulates microtubule dynamics at spindle poles and enhances microtubule lattice severing activity through katanin complex association
PMID: 39471460
2
ASPM promotes ATR-CHK1 activation, stabilizes stalled replication forks, and facilitates DNA repair
PMID: 36161901
3
ASPM is upregulated in early-stage lung adenocarcinoma and serves as a potential biomarker
PMID: 38555814
4
ASPM expression is elevated in pancreatic adenosquamous carcinoma stem-like cancer cells
PMID: 34326696
5
ASPM upregulation in bladder cancer correlates with poor prognosis and metastasis
PMID: 32274607
6
ASPM mutations are associated with primary autosomal recessive microcephaly-5
PMID: 27454254
Disease Associationsβ“˜21
autosomal recessive primary microcephalyOpen Targets
0.79Strong
genetic disorderOpen Targets
0.55Moderate
microcephaly 1, primary, autosomal recessiveOpen Targets
0.51Moderate
macular degenerationOpen Targets
0.51Moderate
microcephalyOpen Targets
0.50Moderate
Abnormality of the nervous systemOpen Targets
0.48Moderate
age-related macular degenerationOpen Targets
0.47Moderate
arthrogryposis multiplex congenitaOpen Targets
0.41Moderate
fetal akinesia deformation sequenceOpen Targets
0.41Moderate
fetal akinesia deformation sequence 1Open Targets
0.41Moderate
LissencephalyOpen Targets
0.34Weak
Intellectual disabilityOpen Targets
0.32Weak
ovarian neoplasmOpen Targets
0.28Weak
degeneration of macula and posterior poleOpen Targets
0.25Weak
retinopathyOpen Targets
0.24Weak
hepatocellular carcinomaOpen Targets
0.22Weak
lung adenocarcinomaOpen Targets
0.21Weak
gliomaOpen Targets
0.21Weak
bladder transitional cell carcinomaOpen Targets
0.20Weak
breast carcinomaOpen Targets
0.20Weak
Microcephaly 5, primary, autosomal recessiveUniProt
Pathogenic Variants349
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1326
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|See cases
β˜…β˜…β˜†β˜†2026β†’ Residue 3064
NM_018136.5(ASPM):c.7105C>T (p.Gln2369Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2369
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 3152
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|Microcephaly 1, primary, autosomal recessive|Inborn genetic diseases|ASPM-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 2595
NM_018136.5(ASPM):c.7974C>A (p.Tyr2658Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2658
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 3233
NM_018136.5(ASPM):c.2419+2T>CPathogenic
Microcephaly 5, primary, autosomal recessive|not provided|Autosomal recessive primary microcephaly
β˜…β˜…β˜†β˜†2025
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|Microcephaly 1, primary, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 3244
NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2184
NM_018136.5(ASPM):c.6545_6548del (p.Val2182fs)Pathogenic
not provided|Microcephaly 5, primary, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 2182
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2731
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|Autosomal recessive primary microcephaly|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 3060
NM_018136.5(ASPM):c.637del (p.Ile213fs)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|Developmental and epileptic encephalopathy 116
β˜…β˜…β˜†β˜†2025β†’ Residue 213
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 3390
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|Developmental and epileptic encephalopathy 116
β˜…β˜…β˜†β˜†2025β†’ Residue 2445
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2078
NM_018136.5(ASPM):c.8098C>T (p.Arg2700Ter)Pathogenic
not provided|Microcephaly 5, primary, autosomal recessive
β˜…β˜…β˜†β˜†2025β†’ Residue 2700
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)Pathogenic
not provided|Microcephaly 5, primary, autosomal recessive|Developmental and epileptic encephalopathy 116
β˜…β˜…β˜†β˜†2025β†’ Residue 385
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)Pathogenic
Microcephaly 5, primary, autosomal recessive|not provided|Developmental and epileptic encephalopathy 116
β˜…β˜…β˜†β˜†2025β†’ Residue 931
View on ClinVar β†—
Related Genes
CDC20Protein interaction100%CENPEProtein interaction99%FOXM1Protein interaction99%KIFC1Protein interaction99%NEK2Protein interaction99%TK1Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
12%
Lung
2%
Heart
1%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
ASPMCDC20CENPEFOXM1KIFC1NEK2TK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IZT6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.62–0.77]
RankingsWhere ASPM stands among ~20K protein-coding genes
  • #2,877of 20,598
    Most Researched156 Β· top quartile
  • #167of 5,498
    Most Pathogenic Variants349 Β· top 5%
  • #6,177of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedASPM
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Predicting potential therapeutic targets and small molecule drugs for early-stage lung adenocarcinoma.
PMID: 38555814
Biomed Pharmacother Β· 2024
1.00
2
Nrf2/ASPM axis regulated vasculogenic mimicry formation in hepatocellular carcinoma under hypoxia.
PMID: 39097533
J Gastroenterol Β· 2024
0.92
3
Single-cell transcriptomics reveals heterogeneous progression and EGFR activation in pancreatic adenosquamous carcinoma.
PMID: 34326696
Int J Biol Sci Β· 2021
0.90
4
CAFs promote immune evasion in gastric cancer through histone lactylation-mediated suppression of NCAPG ubiquitination.
PMID: 40898336
J Transl Med Β· 2025
0.84
5
PMID: 35722431
Ann Transl Med Β· 2022
0.80