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

ASPM Gene

protein-coding   GIFtS: 55
GCID: GC01M197053

Asp (Abnormal Spindle) Homolog, Microcephaly Associated...

(Previous names: microcephaly, primary autosomal recessive 5, asp (abnormal...)
(Previous symbol: MCPH5)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Asp (Abnormal Spindle) Homolog, Microcephaly Associated
(Drosophila)1 2
     Calmbp12
MCPH51 2 3 5     Abnormal Spindle-Like Microcephaly-Associated Protein2
Asp (Abnormal Spindle)-Like, Microcephaly Associated (Drosophila)1     Abnormal Spindle Protein Homolog3
Microcephaly, Primary Autosomal Recessive 51     Asp Homolog3
ASP2     

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 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, and microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern. GO annotations related to this gene include calmodulin binding.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ASPM at MOPED 

Post-translational modifications:

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

  • ASPM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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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    Cloud-Clone Corp. 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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    Novus Biologicals ASPM Antibodies
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    Cloud-Clone Corp. Antibodies for ASPM 
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    LSBio Antibodies in human, mouse, rat for ASPM 

    Assay Products for ASPM: 
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    Cloud-Clone Corp. ELISAs for ASPM 
    Cloud-Clone Corp. CLIAs for ASPM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001715 CH-domain
     IPR027417 P-loop_NTPase
     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 domains:
    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


    ASPM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
    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 - Custom generated mouse model solutions for ASPM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASPM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASPM 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASPM 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPM
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    Gene Editing
    Products:
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASPM (NM_018136)
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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, Sino Biological, 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 Oct 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
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    PLK1P533503, ENSP000003000934I2D: score=1 STRING: ENSP00000300093
    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, Ligands according to IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
    Products:
         
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    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 RNAi products in human, mouse, rat for ASPM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPM
    Clone
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    OriGene clones in human, mouse for ASPM (see all 5)
    OriGene ORF clones in mouse, rat for ASPM
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPM
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ASPM
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ASPM
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPM

    Additional mRNA 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):

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

    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)      ASPM embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATAAACTA
    ASPM Expression
    About this image


    ASPM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             Substantia Nigra   
     
     Gonad (Reproductive System)    fully expand to see all 2 entries
             Primordial Germ Cells Primitive Gonad
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Secondary Oocyte Antral Follicle
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             lymph node   

    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
    Primer
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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 animals.

    Orthologs for ASPM gene from 7/15 species (see all 15)    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
    Uncharacterized protein
    46(a)
    1 ↔ 1
    GL343432.1(254266-288658)
    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
    26(a)
    1 ↔ 1
    3R(20579625-20586235)
    worm
    (Caenorhabditis elegans)
    Secernentea aspm-16
    Protein ASPM-1
    21(a)
    1 ↔ 1
    I(9221826-9226386)


    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, 4UniProtKB, 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

    10/1692 SNPs in ASPM are shown (see all 1692)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs75288271,2,4
    C,F,Hnon-pathogenic1203600276(+) GGTAAT/CGAAGT 4 /H /R mis112Minor allele frequency- C:0.01NS EA NA WA 5500
    rs360043061,2,4
    C,Fnon-pathogenic1203601978(+) CAGCCA/CGGTAA 4 R L mis15Minor allele frequency- C:0.04NA EU 5905
    rs37622711,2,4
    C,F,Hnon-pathogenic1203611335(-) TCCACC/ATTAGA 3 /I /L mis1 int133Minor allele frequency- A:0.26EA NS MN NA WA EU 11142
    rs121383361,2,4
    C,F,Hnon-pathogenic1203611414(+) TGAATC/GTGTTT 3 H Q mis1 int114Minor allele frequency- G:0.06NS EA NA EU 6770
    rs413109271,2,4
    C,Fnon-pathogenic1203611590(+) GGTGCT/CTTGTA 3 /S /G mis1 int19Minor allele frequency- C:0.31NA WA EA EU 6117
    rs413083651,2
    C,Fnon-pathogenic1203611600(+) ATTACA/G/TATAGA 3 I syn1 int19NA WA EA EU 6115
    rs109221621,2
    C,F,A,Hnon-pathogenic1203611669(+) ATAACC/TACAGC 3 V syn1 int118Minor allele frequency- T:0.17NS EA NA EU 7987
    rs14126401,2
    C,F,O,A,Hnon-pathogenic1203611708(+) CTTTGC/TAATTT 3 L syn1 int1 ese325Minor allele frequency- T:0.20MN NS EA NA WA CSA EU 7822
    rs9642011,2,4
    C,F,A,Hnon-pathogenic1203611794(+) TCTGTG/ACATCC 3 /H /Y mis1 int1 ese323Minor allele frequency- A:0.00MN NS EA NA WA CSA EU 7456
    rs413109251,2
    C,Fnon-pathogenic1203613313(+) TTCTTT/CTGTTG 3 /Q syn1 int18Minor allele frequency- C:0.32NA EA EU 6059

    HapMap Linkage Disequilibrium report for ASPM (197053257 - 197115824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ASPM:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv873068CNV Loss21882294
    nsv873069CNV Loss21882294
    dgv514n71CNV Loss21882294
    dgv515n71CNV Loss21882294
    nsv826053CNV Loss20364138
    nsv528460CNV Gain19592680
    nsv873070CNV Gain+Loss21882294
    essv19099CNV CNV17122850
    esv743CNV CNV17122850
    essv8557CNV CNV17122850


    Human Gene Mutation Database (HGMD): ASPM
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605481   
    OMIM disorders: 608716  
    UniProtKB/Swiss-Prot: ASPM_HUMAN, Q8IZT6
  • Microcephaly, primary, 5 (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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

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

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

    ASPM for disorders           About GeneDecksing

    3 Novoseek inferred 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
    GeneReviews: ASPM
    Genetic Association Database (GAD): ASPM
    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 86):
    (articles sorted by number of sources associating them with ASPM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. (PubMed id 18204051)1, 2, 4 Wang J.K....Su B. (2008)
    2. 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)
    3. ASPM is a major determinant of cerebral cortical size. (PubMed id 12355089)1, 2, 9 Bond J.... Woods C.G. (2002)
    4. Protein-truncating mutations in ASPM cause variable reduction in brain size. (PubMed id 14574646)1, 2, 9 Bond J.... Woods C.G. (2003)
    5. No evidence that polymorphisms of brain regulator genes Microcephalin and ASPM are associated with general mental ability, head circumference or altruism. (PubMed id 17251122)1, 4, 9 Rushton J.P....Bons T.A. (2007)
    6. Sex-dependent association of common variants of micro cephaly genes with brain structure. (PubMed id 20080800)1, 4, 9 Rimol L.M....Andreassen O.A. (2010)
    7. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (2010)
    8. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (2009)
    9. The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration. (PubMed id 18541031)1, 4 Zhang H....Deangelis M.M. (2008)
    10. Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort. (PubMed id 17566767)1, 4 Dobson-Stone C....Schofield P.R. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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
    ATLAS Chromosomes in Cancer entry for ASPM Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASPM

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

    GeneCards and IP:
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