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

CASC5 Gene

protein-coding   GIFtS: 54
GCID: GC15P040886

cancer susceptibility candidate 5
 Explore 5 diseases affiliated with
CASC5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CASC5    

Aliases
for CASC5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cancer Susceptibility Candidate 51 2     ALL1-Fused Gene From Chromosome 15q14 Protein2 3
CT291 2 3     Blinkin, Bub-Linking Kinetochore Protein2
KNL11 2 3     Kinetochore Null 1 Homolog2
AF15Q141 2     Protein CASC52
D401 2     Protein Phosphatase 1, Regulatory Subunit 552
PPP1R551 2     AF15q143
HKNL-11     Blinkin3
HSpc1051     KIAA15703
Cancer Susceptibility Candidate Gene 5 Protein2 3     Bub-Linking Kinetochore Protein3
Cancer/Testis Antigen 292 3     Protein D40/AF15q143
Kinetochore-Null Protein 12 3     

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


Summaries
for CASC5 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  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 plasmid: CASC5 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

Proteins
for CASC5 gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NG31

    • CASC5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Browse ProSpec Recombinant Proteins
    Uscn 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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    Protein Domains /
    Families
    for CASC5 gene

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

    ProtoNet protein and cluster: Q8NG31


    Function
    for CASC5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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    Inhib. RNA
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17981135


    CASC5 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for CASC5 gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1M Phase
    		M Phase1.00
    		Mitotic Anaphase0.85
    		Mitotic M-M/G1 phases0.88
    		Separation of Sister Chromatids0.80
    		Mitotic Metaphase and Anaphase0.85
    2RSF Complex Binds the Centromere.
    		RSF Complex Binds the Centromere.1.00
    		Deposition of New CENPA-containing Nucleosomes at the Centromere1.00
    		Nucleosome assembly1.00
    		Deposition of New CENPA-containing Nucleosomes at the Centromere.0.96
    3Resolution of Sister Chromatid Cohesion
    		Resolution of Sister Chromatid Cohesion1.00
    		Mitotic Prometaphase0.93
    		Kinetochore assembly0.96
    4Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84
    5Meiotic Synapsis
    		Chromosome Maintenance0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/15        Reactome Pathways for CASC5 (see all 15)
        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)

    5/588 Interacting proteins for CASC5 (Q8NG312, 3 ENSP000003354634) via UniProtKB, MINT, STRING, and/or I2D (see all 588)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000087M phase of mitotic cell cycle TAS--
    GO:0000236mitotic prometaphase TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0001675acrosome assembly NAS15579588
    GO:0006334nucleosome assembly TAS--


    CASC5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CASC5 gene

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

    Browse Tocris compounds for CASC5
    Search CenterWatch for drugs/clinical trials and news about CASC5 

    Transcripts
    for CASC5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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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    SwitchGear 3'UTR luciferase reporter plasmid: CASC5 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    CB161400 BU682896 CF137133 NM_170589 BM478643 AF461041 NM_144508 AW769037 
    AB046790 BE326575 AF173994 AW074544 AW769560 BQ776141 BF446760 AA287468 
    AI767608 AL705831 BQ071231 BC043597 BX473716 BG678724 BX473715 AB022190 

    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

    Expression
    for CASC5 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCCCAAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CASC5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyS-shaped BodyKidney Endothelial CellsEndothelium
    TestisTestis CordXY Germ CellsGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for CASC5 gene

    (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 4/12 species (see all 12)    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
    		 --
    		 64(a)
    		 1 ↔ 1
    		 GL343264.1(667043-668319)
    zebrafish
    (Danio rerio)    		 Actinopterygii casc56
    		 cancer susceptibility candidate 5
    		 21(a)
    		 1 ↔ 1
    		 1(10270507-10290582)


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

    Paralogs
    for CASC5 gene

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

    Genomic Variants
    for CASC5 gene

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

    10/1237 NCBI SNPs in CASC5 are shown (see all 1237)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1906693831,2
    		--40884534(+) ACGCCC/TGGGTA 2 -- us2k10--------
    rs1827135211,2
    		--40884664(+) CCACCA/GCGCCC 2 -- us2k10--------
    rs110702831,2
    		C,F,A,H,--40884719(+) CATAAT/CAGCAG 2 -- us2k129Minor allele frequency- C:0.24NS EA NA WA CSA 2918
    rs1863435271,2
    		--40884735(+) AAAATC/TACCAC 2 -- us2k10--------
    rs1918380741,2
    		--40884800(+) TCTGTA/GATTTC 2 -- us2k10--------
    rs1839855111,2
    		--40884830(+) GATAAA/GGTTAA 2 -- us2k10--------
    rs1412550291,2
    		--40884922(+) CTGAAC/TCAAAT 2 -- us2k10--------
    rs1469231681,2
    		--40884941(+) GAATTC/GTATCC 2 -- us2k10--------
    rs1379214561,2
    		--40885076(+) TTCCCA/GACGGA 2 -- us2k10--------
    rs169708511,2
    		C,F,H,--40885107(+) AAGCCA/GCTGGA 2 -- us2k121Minor allele frequency- G:0.33NA EA NS WA 2546

    HapMap Linkage Disequilibrium report for CASC5 (40886218 - 40956540 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for CASC5
         2 CNVs: 47928 3959
         2 Inversions: 37167 37166

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASC5
    DNA2.0 Custom Variant and Variant Library Synthesis for CASC5

    Disorders / Diseases
    for CASC5 gene

    (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
    CASC5 for disorders           About GeneDecksing

    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 MLL/HRX. May give rise to a MLL-CASC5 fusion protein
  • Defects in CASC5 are the cause of microcephaly primary type 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

    5 diseases for CASC5:    About MalaCards
    median neuropathy    infertility    neuropathy    lung cancer
    melanoma

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

    1 Novoseek 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)


    Export disorders for CASC5 gene to outside databases

    Publications
    for CASC5 gene

    (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 42):
    (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)

    External Searches for CASC5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CASC5 gene

    (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

    Other Databases showing CASC5 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1570

    Specialized Databases showing CASC5 gene

    (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

    Intellectual Property
    for CASC5 gene

    (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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