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Aliases for ASPM Gene

Aliases for ASPM Gene

  • Abnormal Spindle Microtubule Assembly 2 3 5
  • MCPH5 3 4
  • Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila) 2
  • Asp (Abnormal Spindle)-Like, Microcephaly Associated (Drosophila) 2
  • Asp (Abnormal Spindle) Homolog, Microcephaly Associated 3
  • Microcephaly, Primary Autosomal Recessive 5 2
  • Abnormal Spindle Protein Homolog 4
  • Asp Homolog 4
  • Calmbp1 3
  • ASP 3

External Ids for ASPM Gene

Previous HGNC Symbols for ASPM Gene

  • MCPH5

Previous GeneCards Identifiers for ASPM Gene

  • GC01U990488
  • GC01M192511
  • GC01M193519
  • GC01M194341
  • GC01M193785
  • GC01M195319
  • GC01M168210

Summaries for ASPM Gene

Entrez Gene Summary for ASPM Gene

  • 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]

GeneCards Summary for ASPM Gene

ASPM (Abnormal Spindle Microtubule Assembly) is a Protein Coding gene. Diseases associated with ASPM include microcephaly 5, primary, autosomal recessive and autosomal recessive primary microcephaly. GO annotations related to this gene include binding and calmodulin binding.

UniProtKB/Swiss-Prot for ASPM Gene

  • Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis.

Gene Wiki entry for ASPM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPM Gene

Genomics for ASPM Gene

Regulatory Elements for ASPM Gene

Promoters for ASPM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASPM on UCSC Golden Path with GeneCards custom track

Genomic Location for ASPM Gene

Chromosome:
1
Start:
197,084,127 bp from pter
End:
197,146,694 bp from pter
Size:
62,568 bases
Orientation:
Minus strand

Genomic View for ASPM Gene

Genes around ASPM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASPM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASPM Gene

Proteins for ASPM Gene

  • Protein details for ASPM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZT6-ASPM_HUMAN
    Recommended name:
    Abnormal spindle-like microcephaly-associated protein
    Protein Accession:
    Q8IZT6
    Secondary Accessions:
    • Q4G1H1
    • Q5VYL3
    • Q86UX4
    • Q8IUL2
    • Q8IZJ7
    • Q8IZJ8
    • Q8IZJ9
    • Q8N4D1
    • Q9NVS1
    • Q9NVT6

    Protein attributes for ASPM Gene

    Size:
    3477 amino acids
    Molecular mass:
    409800 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34607.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91676.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ASPM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASPM Gene

Proteomics data for ASPM Gene at MOPED

Post-translational modifications for ASPM Gene

  • Ubiquitination at Lys 177, Lys 1349, Lys 1519, Lys 1537, Lys 1830, Lys 1843, Lys 1875, Lys 1903, Lys 2002, Lys 2053, Lys 2171, Lys 2358, Lys 3061, Lys 3169, Lys 3404, and Lys 3446
  • Modification sites at PhosphoSitePlus

Other Protein References for ASPM Gene

No data available for DME Specific Peptides for ASPM Gene

Domains & Families for ASPM Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZT6

UniProtKB/Swiss-Prot:

ASPM_HUMAN :
  • Contains 2 CH (calponin-homology) domains.
Domain:
  • Contains 2 CH (calponin-homology) domains.
  • Contains 39 IQ domains.
genes like me logo Genes that share domains with ASPM: view

No data available for Gene Families for ASPM Gene

Function for ASPM Gene

Molecular function for ASPM Gene

UniProtKB/Swiss-Prot Function:
Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential role in regulating neurogenesis.
genes like me logo Genes that share phenotypes with ASPM: view

Human Phenotype Ontology for ASPM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASPM Gene

MGI Knock Outs for ASPM:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ASPM Gene

Localization for ASPM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPM Gene

Cytoplasm. Cytoplasm, cytoskeleton, spindle. Nucleus. Note=The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin (By similarity). Localizes to spindle poles during mitosis. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASPM Gene COMPARTMENTS Subcellular localization image for ASPM gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072687 meiotic spindle IEA --
genes like me logo Genes that share ontologies with ASPM: view

Pathways & Interactions for ASPM Gene

SuperPathways for ASPM Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0002052 positive regulation of neuroblast proliferation IEA --
GO:0007051 spindle organization IMP 21044324
GO:0007067 mitotic nuclear division IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with ASPM: view

No data available for Pathways by source and SIGNOR curated interactions for ASPM Gene

Drugs & Compounds for ASPM Gene

No Compound Related Data Available

Transcripts for ASPM Gene

Unigene Clusters for ASPM Gene

Asp (abnormal spindle) homolog, microcephaly associated (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASPM Gene

No ASD Table

Relevant External Links for ASPM Gene

GeneLoc Exon Structure for
ASPM
ECgene alternative splicing isoforms for
ASPM

Expression for ASPM Gene

mRNA expression in normal human tissues for ASPM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASPM Gene

This gene is overexpressed in Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for ASPM Gene

This gene is overexpressed in Urine (29.7), Esophagus (15.8), and Platelet (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ASPM Gene



SOURCE GeneReport for Unigene cluster for ASPM Gene Hs.121028

genes like me logo Genes that share expression patterns with ASPM: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ASPM Gene

Orthologs for ASPM Gene

This gene was present in the common ancestor of animals.

Orthologs for ASPM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASPM 36
  • 98 (a)
OneToOne
ASPM 35
  • 99.52 (n)
  • 99.02 (a)
cow
(Bos Taurus)
Mammalia ASPM 36
  • 74 (a)
OneToOne
ASPM 35
  • 80.43 (n)
  • 74.07 (a)
dog
(Canis familiaris)
Mammalia ASPM 35
  • 86.29 (n)
  • 80.84 (a)
ASPM 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aspm 16
Aspm 35
  • 74.57 (n)
  • 66.16 (a)
Aspm 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPM 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASPM 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aspm 35
  • 73.63 (n)
  • 65.2 (a)
chicken
(Gallus gallus)
Aves ASPM 35
  • 61.32 (n)
  • 53.97 (a)
ASPM 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASPM 36
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7778 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aspm 35
  • 54.75 (n)
  • 47.13 (a)
Str.15458 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12308 35
zebrafish
(Danio rerio)
Actinopterygii aspm 36
  • 38 (a)
OneToOne
aspm 35
  • 50.51 (n)
  • 41.8 (a)
Dr.19463 35
fruit fly
(Drosophila melanogaster)
Insecta asp 36
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea aspm-1 36
  • 18 (a)
OneToOne
Species with no ortholog for ASPM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASPM Gene

ENSEMBL:
Gene Tree for ASPM (if available)
TreeFam:
Gene Tree for ASPM (if available)

Paralogs for ASPM Gene

No data available for Paralogs for ASPM Gene

Variants for ASPM Gene

Sequence variations from dbSNP and Humsavar for ASPM Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs41310927 - 197,101,567(+) GGTGC(C/T)TTGTA intron-variant, reference, missense
rs3762271 - 197,101,312(-) TCCAC(A/C/T)TTAGA intron-variant, reference, missense
rs36004306 - 197,091,956(+) CAGCC(A/C/G)GGTAA reference, missense
rs6428388 - 197,142,964(+) TTTTC(C/T)CCAAT reference, missense
rs7551108 - 197,129,938(+) GAACA(A/C/G)TGGGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ASPM Gene

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
esv743 CNV CNV 17122850
essv8557 CNV CNV 17122850
essv19099 CNV CNV 17122850
dgv514n71 CNV Loss 21882294
nsv873068 CNV Loss 21882294
nsv873069 CNV Loss 21882294
nsv873070 CNV Gain+Loss 21882294
dgv515n71 CNV Loss 21882294
nsv826053 CNV Loss 20364138

Variation tolerance for ASPM Gene

Residual Variation Intolerance Score: 71.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.00; 96.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASPM Gene

HapMap Linkage Disequilibrium report
ASPM
Human Gene Mutation Database (HGMD)
ASPM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPM Gene

Disorders for ASPM Gene

MalaCards: The human disease database

(16) MalaCards diseases for ASPM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly 5, primary, autosomal recessive
  • primary autosomal recessive microcephaly type 5
autosomal recessive primary microcephaly
  • mcph
microcephaly
  • microcephalus
microcephaly nonsyndromal
  • nonsyndromal microcephaly
microcephaly 12, primary, autosomal recessive
  • primary autosomal recessive microcephaly type 12
- elite association - COSMIC cancer census association via MalaCards
Search ASPM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASPM_HUMAN
  • Microcephaly 5, primary, autosomal recessive (MCPH5) [MIM:608716]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269 PubMed:12355089, ECO:0000269 PubMed:14574646, ECO:0000269 PubMed:16673149, ECO:0000269 PubMed:22989186}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ASPM

Genetic Association Database (GAD)
ASPM
Human Genome Epidemiology (HuGE) Navigator
ASPM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASPM
genes like me logo Genes that share disorders with ASPM: view

No data available for Genatlas for ASPM Gene

Publications for ASPM Gene

  1. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PMID: 18204051) Wang J.-K. … Su B. (Hum. Mol. Genet. 2008) 3 4 48 67
  2. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. (PMID: 19808985) Kousar R. … Ansar M. (J. Child Neurol. 2010) 3 23
  3. Sex-dependent association of common variants of microcephaly genes with brain structure. (PMID: 20080800) Rimol L.M. … Andreassen O.A. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 23
  4. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. (PMID: 19332161) Saadi A. … Chaouch M. (Eur J Med Genet 2009) 3 23
  5. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. (PMID: 19770472) Passemard S. … Verloes A. (Neurology 2009) 3 23

Products for ASPM Gene

Sources for ASPM Gene

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