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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASPM Gene

protein-coding   GIFtS: 53
GCID: GC01M197053

asp (abnormal spindle) homolog, microcephaly associated...

(Previous names: microcephaly, primary autosomal recessive 5, asp (abnormal...)
(Previous symbol: MCPH5)
 Explore 21 diseases affiliated with
ASPM via our new
 Human Malady Compendium 
Biological research products
for ASPM
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Asp (Abnormal Spindle) Homolog, Microcephaly Associated (Drosophila)1 2     Asp (Abnormal Spindle)-Like, Microcephaly Associated (Drosophila)1
MCPH51 2 3 5     Microcephaly, Primary Autosomal Recessive 51
ASP1 2     Abnormal Spindle-Like Microcephaly-Associated Protein2
Calmbp11 2     Abnormal Spindle Protein Homolog3
FLJ105171     Asp Homolog3
FLJ105491     

External Ids:    HGNC: 190481   Entrez Gene: 2592662   Ensembl: ENSG000000662797   OMIM: 6054815   UniProtKB: Q8IZT63   

Export aliases for ASPM gene to outside databases

Previous GC identifers: GC01U990488 GC01M192511 GC01M193519 GC01M194341 GC01M193785 GC01M195319 GC01M168210


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASPM:
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)

UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6
Function: Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential
role in regulating neurogenesis

Gene Wiki entry for ASPM


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASPM gene promoter:
         AML1a   E2F-1   E2F   FOXD3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASPM promoter sequence
   Search SABiosciences Chromatin IP Primers for ASPM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASPM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q31   Ensembl cytogenetic band:  1q31.3   HGNC cytogenetic band: 1q31

ASPM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASPM gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M197053:  view genomic region     (about GC identifiers)

Start:
197,053,257 bp from pter      End:
197,115,824 bp from pter
Size:
62,568 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6 (See protein sequence)
Recommended Name: Abnormal spindle-like microcephaly-associated protein  
Size: 3477 amino acids; 409800 Da
Subcellular location: Cytoplasm (By similarity). Cytoplasm, cytoskeleton, spindle. Nucleus (By similarity). Note=The
nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin (By similarity). Localizes to
spindle poles during mitosis
Sequence caution: Sequence=AAH34607.1; Type=Erroneous initiation; Sequence=BAA91676.1; Type=Erroneous initiation;
Secondary accessions: Q4G1H1 Q5VYL3 Q86UX4 Q8IUL2 Q8IZJ7 Q8IZJ8 Q8IZJ9 Q8N4D1 Q9NVS1 Q9NVT6
Alternative splicing: 2 isoforms:  Q8IZT6-1   Q8IZT6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASPM: NX_Q8IZT6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IZT6

  • ASPM Protein expression data from MOPED and PaxDb:    About this image 
    ASPM Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001193775.1  NP_060606.3  

    ENSEMBL proteins: 
     ENSP00000356379   ENSP00000356378   ENSP00000294732  

    Human Recombinant Protein Products for ASPM: 
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    Uscn Proteins for ASPM

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000922spindle pole IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0030496midbody IEA--

    ASPM for ontologies           About GeneDecksing



    ASPM Antibody Products: 
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    Uscn Antibodies for ASPM
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    Assay Products for ASPM: 
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    Uscn ELISAs and CLIAs for ASPM


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ASPM for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001715 CH-domain
     IPR000048 IQ_motif_EF-hand-BS
     IPR022613 CAMSAP_CH

    Graphical View of Domain Structure for InterPro Entry Q8IZT6

    ProtoNet protein and cluster: Q8IZT6

    2 Blocks protein families:
    IPB000048 IQ calmodulin-binding region
    IPB001715 Calponin-like actin-binding


    UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 39 IQ domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASPM_HUMAN, Q8IZT6
    Function: Probable role in mitotic spindle regulation and coordination of mitotic processes. May have a preferential
    role in regulating neurogenesis

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005516calmodulin binding IEA--
         
    ASPM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ASPM:
     Synthetic lethal with gemcitab 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Aspm):
     craniofacial  endocrine/exocrine gland  growth/size  nervous system  reproductive system 

    ASPM for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ASPM 

    miRNA
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    OriGene 3'-UTR Clone: ASPM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPM
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASPM (see all 7)
    OriGene shRNA RFP: ASPM
    OriGene siRNA: ASPM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPM
    Sirion Biotech Custom design and validation of potent shRNA sequences against ASPM 

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPM (see all 3)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ASPM (NM_018136)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPM 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPM


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASPM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/48 Interacting proteins for ASPM (Q8IZT63 ENSP000003563794) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
    PLK1P533503, ENSP000003000934I2D: score=1 STRING: ENSP00000300093
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0002052positive regulation of neuroblast proliferation IEA--
    GO:0007067mitosis IEA--
    GO:0007283spermatogenesis IEA--
    GO:0007420brain development ----

    ASPM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASPM
    Search CenterWatch for drugs/clinical trials and news about ASPM 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ASPM gene (2 alternative transcripts): 
    NM_001206846.1  NM_018136.4  

    Unigene Cluster for ASPM:

    Asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
    Hs.121028  [show with all ESTs]
    Unigene Representative Sequence: NM_018136
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367409(uc001gtu.3 uc001gtw.4) ENST00000367408 ENST00000294732(uc001gtv.3)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPM
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate ASPM
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASPM (see all 7)
    OriGene shRNA RFP: ASPM
    OriGene siRNA: ASPM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPM
    Sirion Biotech Custom design and validation of potent shRNA sequences against ASPM 
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASPM (NM_018136)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPM

    Additional cDNA sequence: 

    AF509326.1 AK001379.1 AK001380.1 AK001411.1 AK095892.1 AK125107.1 AK226178.1 AY099890.1 
    AY099891.1 AY099892.1 AY099893.1 AY101201.1 AY367065.1 AY971955.1 AY971956.1 AY971957.1 
    BC015396.2 BC034607.1 BC040439.1 BX648804.1 

    7 DOTS entries:

    DT.211122  DT.100783368  DT.427161  DT.100783370  DT.40219070  DT.102828077  DT.121330049 

    24/130 AceView cDNA sequences (see all 130):

    AA287540 BC034607 AA642440 BM698701 BG035713 AI085761 BU508209 BP365385 
    AY099893 AI016489 AA287875 AA969404 NM_018136 AU141032 AY099890 AA827767 
    AI126836 AI214278 CB123979 AY099891 AY367065 AI248866 BC040439 AY099892 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASPM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATAAACTA
    ASPM Expression
    About this image

    ASPM expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleSecondary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E44 (Embryonic Progenitor Cell)
    Adult human kidney epithelial cells (Primary Cell)Kidney

    See ASPM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASPM

    SOURCE GeneReport for Unigene cluster: Hs.121028
        SABiosciences Custom PCR Arrays for ASPM
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPM

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ASPM gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aspm1 , 5 asp (abnormal spindle)-like, microcephaly associated more1, 5 74.41(n)1
    65.92(a)1
      1 (61.45 cM)5
    123161  NM_009791.41  NP_033921.31 
     1394547735 
    chicken
    (Gallus gallus)
    Aves ASPM1 asp (abnormal spindle) homolog, microcephaly associated more 61.33(n)
    53.25(a)
      424354  XM_422197.3  XP_422197.3 
    lizard
    (Anolis carolinensis)
    Reptilia ASPM6
    --
    46(a)
    1 ↔ 1
    GL343432.1(254266-288516)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.77782 Xenopus laevis transcribed sequence with weak similarity more 74.25(n)    CF289446.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.194632 Transcribed sequence with weak similarity to protein more 72.06(n)    BM141409.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta asp6
    abnormal spindle
    21(a)
    1 ↔ 1
    3R(20579625-20586235)
    worm
    (Caenorhabditis elegans)
    Secernentea aspm-16
    mammalian ASPM (Abnormal SPindles and primary Micr...
    14(a)
    1 ↔ 1
    I(9221819-9226379)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G218206
    binding / calmodulin binding protein
    21(a)
    1 ↔ 1
    4(11577524-11584053)
    rice
    (Oryza sativa)
    Liliopsida --
    IQ calmodulin-binding motif family protein, expres...
    20(a)
    1 ↔ 1
    7(19942783-19950062)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1337 NCBI SNPs in ASPM are shown (see all 1337    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs120250661,2
    C,Hnon-pathogenic185940539(+) ATGTAT/CTTGGC 4 /I /V mis15Minor allele frequency- C:0.00NS EA NA 408
    rs64283881,2
    C,F,A,Hnon-pathogenic185940890(+) TTTTCT/CCCAAT 4 /R /G mis1 ese3 trp312Minor allele frequency- C:0.02NS EA NA WA 4118
    rs175506621,2
    C,F,Hnon-pathogenic185944038(+) GCGATA/GATGGG 4 I syn1 ese310Minor allele frequency- G:0.04NA NS EA EU 6531
    rs75511081,2
    C,A,Hnon-pathogenic185953916(+) GAACAA/C/GTGGGG 6 T S I mis1 ese35NS EA NA 418
    rs1131613951,2
    C,Fnon-pathogenic185955233(+) TCACCA/GCTTAG 4 S syn12Minor allele frequency- G:0.01NA EU 5835
    rs168410811,2
    C,F,Hnon-pathogenic185959619(+) CATCAG/AAATGG 4 /S /F mis1 ese319Minor allele frequency- A:0.05NA NS EA CSA WA EU 7631
    rs28787491,2
    C,F,Hnon-pathogenic185979051(-) CGGAAA/GTATAT 3 K int1 syn121Minor allele frequency- G:0.28NA NS EA WA EU 7464
    rs413109251,2
    C,Fnon-pathogenic185980563(+) TTCTTT/CTGTTG 3 /Q int1 syn18Minor allele frequency- C:0.32NA EA EU 6059
    rs9642011,2
    C,F,A,Hnon-pathogenic185982082(+) TCTGTG/ACATCC 3 /H /Y mis1 int1 ese323Minor allele frequency- A:0.00MN NS EA NA WA CSA EU 7456
    rs14126401,2
    C,F,O,A,Hnon-pathogenic185982168(+) CTTTGC/TAATTT 3 L int1 syn1 ese325Minor allele frequency- T:0.20MN NS EA NA WA CSA EU 7822

    HapMap Linkage Disequilibrium report for ASPM (197053257 - 197115824 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ASPM
         2 CNVs: 2343 3326
    Human Gene Mutation Database (HGMD): ASPM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASPM
    DNA2.0 Custom Variant and Variant Library Synthesis for ASPM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ASPM for disorders           About GeneDecksing

    OMIM gene information: 605481   
    OMIM disorders: 608716  
    UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6
  • Defects in ASPM are the cause of microcephaly primary type 5 (MCPH5) [MIM:608716]; also known as true
  • microcephaly or microcephaly vera. Microcephaly is 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. Primary microcephaly is further defined by the absence of other syndromic features or
    significant neurological deficits. This entity is inherited as autosomal recessive trait

    20/21 diseases for ASPM (see all 21):    About MalaCards
    microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern    microcephaly    primary autosomal recessive microcephaly    age related macular degeneration
    macular degeneration    oculocerebrorenal syndrome    intellectual disability    seckel syndrome
    malignant glioma    angelman syndrome    hepatitis c    medulloblastoma
    hepatocellular carcinoma    seizures    breast cancer    glioblastoma
    hepatitis    cerebritis    schizophrenia    carcinoma

    3 diseases from the University of Copenhagen DISEASES database for ASPM:
    Microcephaly     Intellectual disability     Oculocerebrorenal syndrome

    3 Novoseek disease relationships for ASPM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microcephaly, primary 98.6 22 16141009 (3), 19808985 (3), 14997185 (2), 19770472 (2) (see all 14)
    microcephaly 85.9 17 18331833 (4), 15972725 (2), 16687438 (1), 18636190 (1) (see all 10)
    mental retardation 59.8 2 17849285 (1), 14574646 (1)

    GeneTests: ASPM
    Primary Autosomal Recessive Microcephaly

    Human Genome Epidemiology (HuGE) Navigator: ASPM (8 documents)

    Export disorders for ASPM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASPM gene, integrated from 9 sources (see all 82):
    (articles sorted by number of sources associating them with ASPM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. (PubMed id 15972725)1, 2, 9 Kouprina N.... Larionov V. (2005)
    2. ASPM is a major determinant of cerebral cortical size. (PubMed id 12355089)1, 2, 9 Bond J.... Woods C.G. (2002)
    3. Protein-truncating mutations in ASPM cause variable reduction in brain size. (PubMed id 14574646)1, 2, 9 Bond J.... Woods C.G. (2003)
    4. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PubMed id 18204051)1, 2 Wang J.K....Su B. (2008)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Evolution of the human ASPM gene, a major determinant of brain size. (PubMed id 14704186)1, 2 Zhang J. (2003)
    9. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. (PubMed id 11078481)1, 3 Pattison L....Woods C.G. (2000)
    10. Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle-like, microcephaly associated) in human malignant gliomas. (PubMed id 18636190)1, 9 Hagemann C....Vince G.H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 259266 HGNC: 19048 AceView: ASPM Ensembl:ENSG00000066279 euGenes: HUgn259266
    ECgene: ASPM H-InvDB: ASPM

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASPM Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASPM

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASPM gene:
    Search GeneIP for patents involving ASPM

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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