Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CASC5 Gene

protein-coding   GIFtS: 58
GCID: GC15P040886

Cancer Susceptibility Candidate 5

  See CASC5-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

TryGeneCards Plus

Aliases
Cancer Susceptibility Candidate 51 2     Regulatory Subunit 551
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
AF15Q142 5     Protein Phosphatase 1, Regulatory Subunit 552
D402 5     AF15q143
KIAA15703 5     Blinkin3
blinkin1     Protein D40/AF15q143
Kinetochore Null 1 Homolog (C. Elegans)1     MCPH45
Protein Phosphatase 11     

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

TryGeneCards Plus

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.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for CASC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
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: 

  • Ubiquitination2 at Lys202, Lys213, Lys246, Lys303, Lys467, Lys501, Lys643, Lys666, Lys680, Lys707,
                                 Lys726, Lys757, Lys777, Lys810, Lys846, Lys1072, Lys1165, Lys1214, Lys1229, Lys1240 (see all 24)
  • Modification sites at PhosphoSitePlus

  • See CASC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    CASC5 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CASC5
    GenScript Custom Purified and Recombinant Proteins Services for CASC5
    Novus Biologicals CASC5 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CASC5

     
    Search eBioscience for Proteins for CASC5 

    CASC5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for CASC5
    Novus Biologicals CASC5 Antibodies
    Abcam antibodies for CASC5
    Cloud-Clone Corp. Antibodies for CASC5
    Search ThermoFisher Antibodies for CASC5
    LSBio Antibodies in human, mouse, rat for CASC5

    CASC5 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CASC5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CASC5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CASC5
    Cloud-Clone Corp. CLIAs for CASC5
    Search eBioscience for ELISAs for CASC5 


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

    TryGeneCards Plus
    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15231748
         
    Find genes that share ontologies with CASC5           About GenesLikeMe


    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: Let us create your new Knockout/Knockin mouse model for CASC5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CASC5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CASC5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CASC5

    miRNA
    Products:
        
    miRTarBase miRNAs that target CASC5:
    hsa-mir-215-5p (MIRT024486), hsa-mir-21-5p (MIRT030815), hsa-mir-192-5p (MIRT026325)

    Block miRNA regulation of human, mouse, rat CASC5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CASC5:
    hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidCASC5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CASC5
    Predesigned siRNA for gene silencing in human, mouse, rat CASC5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CASC5

    Clone
    Products:
         
    OriGene clones in human, mouse for CASC5 (see all 10)
    OriGene ORF clones in mouse, rat for CASC5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CASC5 (NM_170589)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASC5
    Addgene plasmids for CASC5 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CASC5
    Browse ESI BIO Cell Lines and PureStem Progenitors for CASC5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASC5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CASC5_HUMAN, Q8NG31: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    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--

    Find genes that share ontologies with CASC5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CASC5 About    
    See pathways by source

    SuperPathContained pathways About
    1Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Packaging Of Telomere Ends
    Chromosome Maintenance0.62
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.59
    Nucleosome assembly0.59
    4Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92


    Find genes that share SuperPaths with CASC5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for CASC5
        Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids
    Deposition of new CENPA-containing nucleosomes at the centromere


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CASC5
    Interactions:

        Search GeneGlobe Interaction Network for CASC5

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

    Selected Interacting proteins for CASC5 (Q8NG311, 2, 3 ENSP000003354634) via UniProtKB, MINT, STRING, and/or I2D (see all 615)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAP621361, 2, 3, ENSP000003260314EBI-1001161,EBI-357253 MINT-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): Selected biological process terms (see all 9):    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

    Find genes that share ontologies with CASC5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CASC5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CASC5:
    hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidCASC5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CASC5
    Predesigned siRNA for gene silencing in human, mouse, rat CASC5
    Clone
    Products:
         
    OriGene clones in human, mouse for CASC5 (see all 10)
    OriGene ORF clones in mouse, rat for CASC5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CASC5 (NM_170589)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CASC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASC5
    Addgene plasmids for CASC5 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CASC5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASC5
      QuantiTect SYBR Green Assays in human, mouse, rat CASC5
      QuantiFast Probe-based Assays in human, mouse, rat CASC5

    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 

    Selected AceView cDNA sequences (see all 70):

    BU682896 BQ776141 AW769037 AW074544 CB161400 NM_144508 AB046790 BM478643 
    AF461041 AA287468 BE326575 BF446760 AW769560 AF173994 AI767608 NM_170589 
    CF137133 CK823968 AW510759 BC043597 BX492661 CB144553 AB022190 AF248041 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CASC5 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 12) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Double Positive Thymocytes Thymus
             Umbilical cord blood-derived mesenchymal stem cells
     
     Gonad
             XY Germ Cells Testis Cord
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
    CASC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CASC5 Protein Expression

    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

        Custom PCR Arrays for CASC5
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CASC5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASC5
    QuantiTect SYBR Green Assays in human, mouse, rat CASC5
    QuantiFast Probe-based Assays in human, mouse, rat CASC5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASC5

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for CASC5 gene from Selected 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 77.63(n)1
    62.67(a)1
      2 (59.85 cM)5
    764641  NM_029617.21  NP_083893.21 
     1190471195 
    chicken
    (Gallus gallus)
    Aves CASC51 cancer susceptibility candidate 5 55(n)
    38.8(a)
      423007  XM_420938.4  XP_420938.4 
    lizard
    (Anolis carolinensis)
    Reptilia CASC56
    cancer susceptibility candidate 5
    64(a)
    1 ↔ 1
    GL343264.1(667043-668319)
    zebrafish
    (Danio rerio)
    Actinopterygii casc56
    cancer susceptibility candidate 5
    18(a)
    1 ↔ 1
    1(10270507-10290582) ENSDARG00000070239


    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

    TryGeneCards Plus
      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CASC5 (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 4, primary, autosomal recessive (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 609173   
    OMIM disorders: 604321  
    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/MLL1. May give rise to a KMT2A/MLL1-CASC5 fusion protein
  • Microcephaly 4, primary, autosomal recessive (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

  • 5 diseases for CASC5:    
    About MalaCards
    primary autosomal recessive microcephaly type 4    median neuropathy    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders    primary autosomal recessive microcephaly type 1
    microcephaly

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

    Find genes that share disorders with CASC5           About GenesLikeMe

    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

    TryGeneCards Plus

    PubMed articles for CASC5 gene, integrated from 10 sources (see all 49):
    (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. (Oncogene 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. (Mol. Biol. Cell 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. (Reproduction 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. (Oncogene 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. (Oncogene 2003)
    6. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. (PubMed id 22983954)1, 2 Genin A.... Abramowicz M. (Hum. Mol. Genet. 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. (Dev. Cell 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. (Nat. Cell Biol. 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. (Br. J. Cancer 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. (DNA Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 57082 HGNC: 24054 AceView: AF15Q14 Ensembl:ENSG00000137812 euGenes: HUgn57082
    ECgene: CASC5 H-InvDB: CASC5

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1570

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CASC5  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for CASC5  
     OriGene qSTAR qPCR primer pairs in human, mouse for CASC5   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for CASC5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CASC5   OriGene Custom Protein Services for CASC5  

     
     
     Block miRNA regulation of human, mouse, rat CASC5 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CASC5
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CASC5 Predesigned siRNA for gene silencing in human, mouse, rat CASC5
     QuantiFast Probe-based Assays in human, mouse, rat CASC5 QuantiTect SYBR Green Assays in human, mouse, rat CASC5
     Custom PCR Arrays for CASC5 Search Chromatin IP Primers for CASC5
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CASC5  Search GeneGlobe Interaction Network for CASC5
     Regulatory tfbs in CASC5 promoter
     GenScript Custom Purified and Recombinant Proteins Services for CASC5 GenScript cDNA clones with any tag delivered in your preferred vector for CASC5
     GenScript Custom Assay Services for CASC5 GenScript Custom overexpressing Cell Line Services for CASC5
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CASC5
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CASC5 antibodies
     CASC5 proteins
     Antibodies for CASC5
     See all of Abcam's Antibodies, Kits and Proteins for CASC5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CASC5
     Antibodies for CASC5
     ELISAs for CASC5
     CLIAs for CASC5



     Browse ESI BIO Cell Lines and PureStem Progenitors for CASC5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASC5
     SwitchGear 3'UTR luciferase reporter plasmids for CASC5
     SwitchGear Promoter luciferase reporter plasmids for CASC5
     Search ThermoFisher Antibodies for CASC5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASC5
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CASC5
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CASC5
     LSBio Antibodies in human, mouse, rat for CASC5
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Addgene plasmids for CASC5
      Search eBioscience for proteins for CASC5
      Search eBioscience for elisas for CASC5
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CASC5 gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4