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

CASC5 Gene

protein-coding   GIFtS: 57
GCID: GC15P040886

Cancer Susceptibility Candidate 5

  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
Cancer Susceptibility Candidate 51 2     D402
Cancer/Testis Antigen 291 2 3     PPP1R552
Bub-Linking Kinetochore Protein1 3     Spc72
Cancer Susceptibility Candidate Gene 5 Protein2 3     Blinkin, Bub-Linking Kinetochore Protein2
Kinetochore-Null Protein 12 3     hKNL-12
CT292 3     hSpc1052
KNL12 3     Kinetochore Null 1 Homolog2
ALL1-Fused Gene From Chromosome 15q14 Protein2 3     Protein CASC52
blinkin1     Protein Phosphatase 1, Regulatory Subunit 552
Kinetochore Null 1 Homolog (C. Elegans)1     AF15q143
Protein Phosphatase 11     Blinkin3
Regulatory Subunit 551     KIAA15703
AF15Q142     Protein D40/AF15q143

External Ids:    HGNC: 240541   Entrez Gene: 570822   Ensembl: ENSG000001378127   OMIM: 6091735   UniProtKB: Q8NG313   

Export aliases for CASC5 gene to outside databases

Previous GC identifers: GC15P038674 GC15P017733


(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 CASC5 Gene:
The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of
kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for
proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at
least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly
expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously
expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage
leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4
(MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional
splice variants have been described but their biological validity has not been confirmed. (provided by RefSeq,
Jan 2013)

GeneCards Summary for CASC5 Gene: 
CASC5 (cancer susceptibility candidate 5) is a protein-coding gene. Diseases associated with CASC5 include primary autosomal recessive microcephaly type 4, and median neuropathy, and among its related super-pathways are Mitotic Anaphase and Mitotic Prometaphase. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: CASC5_HUMAN, Q8NG31
Function: Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling
and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules.
Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for
kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to
recruit the NDC80 complex to the outer kinetochore

Gene Wiki entry for CASC5 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_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CASC5 gene promoter:
         ER-alpha   POU6F1 (c2)   E4BP4   C/EBPalpha   Evi-1   RORalpha2   POU2F1   POU2F1a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCASC5 promoter sequence
   Search SABiosciences Chromatin IP Primers for CASC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASC5


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q14

CASC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CASC5 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P040886:  view genomic region     (about GC identifiers)

Start:
40,886,218 bp from pter      End:
40,956,540 bp from pter
Size:
70,323 bases      Orientation:
plus 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: CASC5_HUMAN, Q8NG31 (See protein sequence)
Recommended Name: Protein CASC5  
Size: 2342 amino acids; 265391 Da
Subunit: Interacts with DSN1, MIS12, BUB1, BUB1B, NSL1 and ZWINT
Subcellular location: Nucleus. Chromosome, centromere, kinetochore. Note=Weakly expressed in interphase nuclei.
Expression increases from prophase to late anaphase, but greatly diminishes from the telophase and cytokinesis to
early G1 phase of cell cycle
2 PDB 3D structures from and Proteopedia for CASC5:
3SI5 (3D)        4A1G (3D)    
Secondary accessions: Q8NHE1 Q8WXA6 Q9HCK2 Q9NR92
Alternative splicing: 4 isoforms:  Q8NG31-1   Q8NG31-2   Q8NG31-3   Q8NG31-4   

Explore the universe of human proteins at neXtProt for CASC5: NX_Q8NG31

Explore proteomics data for CASC5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NG31

  • CASC5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CASC5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_653091.3  NP_733468.3  

    ENSEMBL proteins: 
     ENSP00000335463   ENSP00000454087   ENSP00000432654   ENSP00000454002   ENSP00000382576  
     ENSP00000453857   ENSP00000432565   ENSP00000436851  
    Reactome Protein details: Q8NG31
    Human Recombinant Protein Products for CASC5: 
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    Cloud-Clone Corp. Proteins for CASC5 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000777condensed chromosome kinetochore IEA--
    GO:0001669acrosomal vesicle IDA15579588
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    CASC5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    ProtoNet protein and cluster: Q8NG31


    (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: CASC5_HUMAN, Q8NG31
    Function: Performs two crucial functions during mitosis: it is essential for spindle-assembly checkpoint signaling
    and for correct chromosome alignment. Required for attachment of the kinetochores to the spindle microtubules.
    Directly links BUB1 and BUB1B to kinetochores. Part of the MIS12 complex, which may be fundamental for
    kinetochore formation and proper chromosome segregation during mitosis. Acts in coordination with CENPK to
    recruit the NDC80 complex to the outer kinetochore

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15231748
         
    CASC5 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for CASC5:
     Cell division defect  Decreased homologous recombina  Increased 8N DNA content  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CASC5 
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    (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

    SuperPaths for CASC5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    2Resolution of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion0.93
    Mitotic Prometaphase0.93
    3Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    4Packaging Of Telomere Ends
    Nucleosome assembly0.46
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.46
    5Meiotic Synapsis
    Chromosome Maintenance0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/12        Reactome Pathways for CASC5 (see all 12)
        Mitotic Metaphase and Anaphase
    Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    Nucleosome assembly
    Mitotic Anaphase



    CASC5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CASC5

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

    5/615 Interacting proteins for CASC5 (Q8NG312, 3 ENSP000003354634) via UniProtKB, MINT, STRING, and/or I2D (see all 615)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAP621362, 3, ENSP000003260314MINT-62201 MINT-7947479 I2D: score=3 STRING: ENSP00000326031
    BUB1O436832, 3, ENSP000003025304MINT-7947479 I2D: score=2 STRING: ENSP00000302530
    PPP1CCP368732, 3, ENSP000003350844MINT-8288644 I2D: score=1 STRING: ENSP00000335084
    DSN1Q9H4103, ENSP000003628504I2D: score=2 STRING: ENSP00000362850
    ZWINTO952293, ENSP000003630554I2D: score=2 STRING: ENSP00000363055
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0001675acrosome assembly NAS15579588
    GO:0006334nucleosome assembly TAS--
    GO:0007067mitosis IEA--
    GO:0008608attachment of spindle microtubules to kinetochore IDA17981135

    CASC5 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 CASC5

    Search CenterWatch for drugs/clinical trials and news about CASC5

    (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 CASC5 gene (2 alternative transcripts): 
    NM_144508.4  NM_170589.4  

    Unigene Cluster for CASC5:

    Cancer susceptibility candidate 5
    Hs.181855  [show with all ESTs]
    Unigene Representative Sequence: NM_170589
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000346991(uc010bbs.1) ENST00000528975 ENST00000527044 ENST00000532056
    ENST00000399668(uc010ucq.1 uc010bbt.1) ENST00000533001(uc001zme.3)
    ENST00000534204 ENST00000526913 ENST00000532406 ENST00000528967 ENST00000532347
    ENST00000531626
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    Additional mRNA sequence: 

    AB022190.1 AB046790.1 AF173994.1 AF248041.1 AF461041.1 AK307605.1 AK307996.1 BC014306.1 
    BC029373.1 BC043597.1 U52052.1 

    9 DOTS entries:

    DT.100778300  DT.208245  DT.100778299  DT.91642915  DT.97787381  DT.99993972  DT.95213969  DT.121018372 
    DT.91675319 

    24/70 AceView cDNA sequences (see all 70):

    AB046790 BF446760 BU682896 AF461041 AI767608 BE326575 CF137133 CB161400 
    AA287468 NM_144508 AW769560 AF173994 AW769037 BM478643 BQ776141 NM_170589 
    AW074544 BG678724 BX283227 AW510759 BM766308 NM_020380 AF248041 BC043597 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CASC5    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                            -                                                               
    SP2:                                                        -                                   -                                                               
    SP3:                                                                                            -                                                               
    SP4:                                                        -                                                                                                   
    SP5:                          -                                                                                                                                 

    ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for CASC5

    (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

    CASC5 expression in normal human tissues (normalized intensities)      CASC5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCCAAAAA
    CASC5 Expression
    About this image


    CASC5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             XY Germ Cells Testis Cord
             testis ; cells in seminiferus ducts   
             sperm   
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             ovary ; follicle cells   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Fibroblasts Myocardium
             heart muscle ; myocytes   

    See CASC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CASC5

    SOURCE GeneReport for Unigene cluster: Hs.181855

    UniProtKB/Swiss-Prot: CASC5_HUMAN, Q8NG31
    Tissue specificity: Highly expressed in testis, where it is localized in germ cells, in particular in
    spermatocytes and in the pre-acrosome of round spermatids. Detected in the acrosome of ejaculated spermatozoa.
    Detected in adult thymus, bone marrow, colon, small intestine, appendix and placenta, and in fetal liver and
    thymus

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    In Situ
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    (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 chordates.

    Orthologs for CASC5 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Casc51 , 5 cancer susceptibility candidate 51, 5 71.66(n)1
    56.67(a)1
      2 (59.85 cM)5
    764641  NM_029617.21  NP_083893.21 
     1190471195 
    chicken
    (Gallus gallus)
    Aves CASC51 cancer susceptibility candidate 5 47.92(n)
    30.95(a)
      423007  XM_420938.3  XP_420938.3 
    lizard
    (Anolis carolinensis)
    Reptilia CASC56
    Uncharacterized protein
    64(a)
    1 ↔ 1
    GL343264.1(667043-668319)
    zebrafish
    (Danio rerio)
    Actinopterygii casc56
    cancer susceptibility candidate 5
    19(a)
    1 ↔ 1
    1(10270507-10290582)


    ENSEMBL Gene Tree for CASC5 (if available)
    TreeFam Gene Tree for CASC5 (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

    10/1663 SNPs in CASC5 are shown (see all 1663)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0690854
    Microcephaly, primary, 4 (MCPH4)4--see VAR_0690852 M I mis40--------
    rs714700471,2
    C--17732417(+) AACCTGAGC    
       TGG
    /T
    GCTGA
    2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs725215001,2
    C--17732417(+) ACCTT-/GA    
       GC
    /GG
    GCTGA
    2 -- us2k10--------
    rs2013942351,2
    C--17732417(+) AACCTG/TGCTGA 2 -- us2k10--------
    rs351260451,2
    C--17736456(+) ATCTC-/AAAAAA 2 -- int12Minor allele frequency- A:0.25NA 4
    rs346562971,2
    C--17769345(+) TGGGCT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs353746621,2
    C--17791829(+) TTTTT-/TCTTTT 2 -- int11Minor allele frequency- T:0.00NA 2
    rs3728114981,2
    C--17791846(+) TTTTT-/CTTTTT 2 -- int10--------
    rs1130926551,2
    C--17797922(+) AAAAAA/GAGAGA 2 -- int10--------
    rs106742621,2
    C--17798312(+) aaaaa-/AAAG  
            
    aaaga
    2 -- int10--------

    HapMap Linkage Disequilibrium report for CASC5 (40886218 - 40956540 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CASC5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv992789CNV Deletion20482838
    esv2749603CNV Deletion23290073
    esv2135247CNV Deletion18987734
    esv34145CNV Loss18971310
    nsv904099CNV Loss21882294
    nsv832984CNV Loss17160897
    dgv739e1CNV Complex17122850
    nsv7263OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): CASC5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CASC5
    DNA2.0 Custom Variant and Variant Library Synthesis for CASC5

    (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: 609173    OMIM disorders: --

    UniProtKB/Swiss-Prot: CASC5_HUMAN, Q8NG31
  • Note=A chromosomal aberration involving CASC5 is associated with acute myeloblastic leukemia (AML).
    Translocation t(11;15)(q23;q14) with KMT2A/MLL. May give rise to a KMT2A/MLL1-CASC5 fusion protein
  • Microcephaly, primary, 4 (MCPH4) [MIM:604321]: 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

  • 11 diseases for CASC5:    About MalaCards
    primary autosomal recessive microcephaly type 4    median neuropathy    primary autosomal recessive microcephaly    microcephaly
    leukemia    neuropathy    infertility    mental retardation
    cerebritis    melanoma    lung cancer

    1 disease from the University of Copenhagen DISEASES database for CASC5:
    Median neuropathy

    CASC5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CASC5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 40.4 2 18771174 (1)

    Genetic Association Database (GAD): CASC5

    Export disorders for CASC5 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 CASC5 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with CASC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14). (PubMed id 10980622)1, 2, 3, 9 Hayette S.... Rimokh R. (2000)
    2. KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates. (PubMed id 18045986)1, 2, 3 Cheeseman I.M....Desai A. (2008)
    3. The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa. (PubMed id 15579588)1, 2, 9 Sasao T.... Takimoto M. (2004)
    4. Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14). (PubMed id 12618768)1, 2, 9 Kuefer M.U.... Morris S.W. (2003)
    5. A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15. (PubMed id 12618766)1, 2, 9 Chinwalla V....Rowley J.D. (2003)
    6. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. (PubMed id 22983954)1, 2 Genin A.... Abramowicz M. (2012)
    7. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. (PubMed id 17981135)1, 2 Kiyomitsu T.... Yanagida M. (2007)
    8. A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1. (PubMed id 15502821)1, 2 Obuse C....Yanagida M. (2004)
    9. Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancer of smokers. (PubMed id 12087463)1, 2 Takimoto M.... Kuzumaki N. (2002)
    10. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57082 HGNC: 24054 AceView: AF15Q14 Ensembl:ENSG00000137812 euGenes: HUgn57082
    ECgene: CASC5 H-InvDB: CASC5

    (According to HUGE)
    About This Section
    HUGE: KIAA1570

    (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 CASC5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CASC5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CASC5 gene:
    Search GeneIP for patents involving CASC5

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



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