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Aliases for ASPM Gene

Aliases for ASPM Gene

  • Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila) 2 3
  • MCPH5 3 4 6
  • Asp (Abnormal Spindle)-Like, Microcephaly Associated (Drosophila) 2
  • Abnormal Spindle-Like Microcephaly-Associated Protein 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 (Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila)) is a Protein Coding gene. Diseases associated with ASPM include microcephaly 5, primary, autosomal recessive and microcephaly. GO annotations related to this gene include 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ASPM Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys177, Lys1349, Lys1519, Lys1537, Lys1830, Lys1843, Lys1875, Lys1903, Lys2002, Lys2053, Lys2171, Lys2358, Lys3061, Lys3169, Lys3404, and Lys3446
  • Modification sites at PhosphoSitePlus

Other Protein References for ASPM Gene

No data available for DME Specific Peptides for ASPM Gene

Domains for ASPM Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZT6

UniProtKB/Swiss-Prot:

ASPM_HUMAN :
  • Q8IZT6
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.

Gene Ontology (GO) - Molecular Function for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding --
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with ASPM: view
genes like me logo Genes that share phenotypes with ASPM: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASPM

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
cytosol 3
nucleus 2
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ASPM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005874 microtubule IEA --
GO:0030496 midbody IEA --
genes like me logo Genes that share ontologies with ASPM: view

Pathways 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:0007067 mitotic nuclear division IEA --
GO:0007283 spermatogenesis IEA --
GO:0007420 brain development --
genes like me logo Genes that share ontologies with ASPM: view

No data available for Pathways by source for ASPM Gene

Transcripts for ASPM Gene

Unigene Clusters for ASPM Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ASPM

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ASPM

Flow Cytometry Products

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 (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ASPM Gene

SOURCE GeneReport for Unigene cluster for ASPM Gene Hs.121028

genes like me logo Genes that share expressions with ASPM: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.52 (n)
  • 99.02 (a)
ASPM 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASPM 35
  • 80.43 (n)
  • 74.07 (a)
ASPM 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASPM 35
  • 86.29 (n)
  • 80.84 (a)
ASPM 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aspm 35
  • 74.57 (n)
  • 66.16 (a)
Aspm 16
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 35
  • 50.51 (n)
  • 41.8 (a)
aspm 36
  • 38 (a)
OneToOne
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 MAF
rs12677 -- 197,084,243(-) CTCTC(C/T)GTGTA utr-variant-3-prime
rs877897 -- 197,134,845(+) CACAC(A/G)GGACT intron-variant
rs955927 -- 197,091,653(-) CCCTG(A/T)TTCTC intron-variant
rs964201 Benign, - 197,101,771(+) TCTGT(A/G)CATCC intron-variant, missense, reference
rs1034162 -- 197,119,173(-) ATGAT(C/T)CAATA intron-variant

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

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

(1) OMIM Diseases for ASPM Gene (605481)

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.

(3) University of Copenhagen DISEASES for ASPM Gene

(3) Novoseek inferred disease relationships for ASPM Gene

Disease -log(P) Hits PubMed IDs
microcephaly, primary 98.6 20
microcephaly 85.9 14
mental retardation 59.8 2

Relevant External Links for ASPM

GeneTests
ASPM
GeneReviews
ASPM
Genetic Association Database (GAD)
ASPM
Human Genome Epidemiology (HuGE) Navigator
ASPM
genes like me logo Genes that share disorders with ASPM: view

Publications for ASPM Gene

  1. ASPM is a major determinant of cerebral cortical size. (PMID: 12355089) Bond J. … Woods C.G. (Nat. Genet. 2002) 3 4 23
  2. Protein-truncating mutations in ASPM cause variable reduction in brain size. (PMID: 14574646) Bond J. … Woods C.G. (Am. J. Hum. Genet. 2003) 3 4 23
  3. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. (PMID: 15972725) Kouprina N. … Larionov V. (Hum. Mol. Genet. 2005) 3 4 23
  4. No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism. (PMID: 17251122) Rushton J.P. … Bons T.A. (Biol. Lett. 2007) 3 23 48
  5. 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 48

Products for ASPM Gene

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