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MIS12 Gene

protein-coding   GIFtS: 52
GCID: GC17P005390

MIS12 Kinetochore Complex Component

(Previous names: MIS12, MIND kinetochore complex component, homolog (yeast),...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
MIS12 Kinetochore Complex Component1 2     hMis122
MIS12, MIND Kinetochore Complex Component, Homolog (S. Pombe)1     Homolog Of Yeast Mis122
MIS12, MIND Kinetochore Complex Component, Homolog (Yeast)1     MIS12 Homolog2
2510025F08Rik2     MIS12, MIND Kinetochore Complex Component, Homolog2
KNTC2AP2     Protein MIS12 Homolog2
MTW12     

External Ids:    HGNC: 249671   Entrez Gene: 790032   Ensembl: ENSG000001678427   OMIM: 6091785   UniProtKB: Q9H0813   

Export aliases for MIS12 gene to outside databases

Previous GC identifers: GC17P005727 GC17P005334 GC17P005590 GC17P005330 GC17P005280


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MIS12 Gene:
MIS12 (MIS12 kinetochore complex component) is a protein-coding gene.

UniProtKB/Swiss-Prot: MIS12_HUMAN, Q9H081
Function: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for
kinetochore formation during mitosis

Gene Wiki entry for MIS12 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MIS12 gene promoter:
         HOXA3   SREBP-1c   HNF-3beta   YY1   SREBP-1b   CREB   SREBP-1a   HSF2   deltaCREB   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MIS12 promoter sequence
   Search Chromatin IP Primers for MIS12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIS12


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

Entrez Gene cytogenetic band: 17p13.2   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.3

MIS12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIS12 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P005390:  view genomic region     (about GC identifiers)

Start:
5,389,605 bp from pter      End:
5,394,134 bp from pter
Size:
4,530 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MIS12_HUMAN, Q9H081 (See protein sequence)
Recommended Name: Protein MIS12 homolog  
Size: 205 amino acids; 24140 Da
Subunit: Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with CASC5, CBX3,
CBX5, NDC80 and ZWINT
Sequence caution: Sequence=AK056072; Type=Frameshift; Positions=147;
Secondary accessions: Q96N24

Explore the universe of human proteins at neXtProt for MIS12: NX_Q9H081

Explore proteomics data for MIS12 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MIS12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001245146.1  NP_001245147.1  NP_001245148.1  NP_001245149.1  NP_076944.1  

    ENSEMBL proteins: 
     ENSP00000461333   ENSP00000459366   ENSP00000461252   ENSP00000370557  
    Reactome Protein details: Q9H081

    MIS12 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for MIS12
    OriGene Protein Over-expression Lysate for MIS12
    OriGene MassSpec for MIS12
    OriGene Custom Protein Services for MIS12
    GenScript Custom Purified and Recombinant Proteins Services for MIS12
    Novus Biologicals MIS12 Proteins
    Novus Biologicals MIS12 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MIS12

     
    Search eBioscience for Proteins for MIS12 

     
    antibodies-online proteins for MIS12 (9 products) 

     
    Search antibodies-online for peptides for MIS12

    MIS12 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for MIS12
    Cloud-Clone Corp. Antibodies for MIS12
    Search ThermoFisher Antibodies for MIS12
    LSBio Antibodies in human, mouse, rat for MIS12
    antibodies-online antibodies for MIS12 (24 products) 

    MIS12 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for MIS12
    Cloud-Clone Corp. CLIAs for MIS12
    Search eBioscience for ELISAs for MIS12 
    antibodies-online kits for MIS12 (5 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR008685 Centromere_Mis12

    Graphical View of Domain Structure for InterPro Entry Q9H081

    ProtoNet protein and cluster: Q9H081

    UniProtKB/Swiss-Prot: MIS12_HUMAN, Q9H081
    Similarity: Belongs to the mis12 family


    Find genes that share domains with MIS12           About GenesLikeMe


    (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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MIS12_HUMAN, Q9H081
    Function: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for
    kinetochore formation during mitosis

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15502821
         
    Find genes that share ontologies with MIS12           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MIS12:
     Proliferating cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MIS12
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MIS12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MIS12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MIS12

    miRNA
    Products:
        
    miRTarBase miRNAs that target MIS12:
    hsa-mir-32-5p (MIRT028251), hsa-mir-10a-5p (MIRT047693), hsa-mir-192-5p (MIRT004855), hsa-mir-16-5p (MIRT051265), hsa-mir-215-5p (MIRT024957)

    Block miRNA regulation of human, mouse, rat MIS12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MIS12 (see all 11):
    hsa-miR-30c hsa-miR-30d hsa-miR-3617 hsa-miR-138-2* hsa-miR-7 hsa-miR-30a hsa-miR-641 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidMIS12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MIS12
    Predesigned siRNA for gene silencing in human, mouse, rat MIS12

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MIS12

    Clone
    Products:
         
    OriGene clones in human, mouse for MIS12 (see all 6)
    OriGene ORF clones in mouse, rat for MIS12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MIS12 (NM_024039)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIS12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS12

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MIS12
    Browse ESI BIO Cell Lines and PureStem Progenitors for MIS12 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MIS12_HUMAN, Q9H081: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000444MIS12/MIND type complex IDA16585270
    GO:0000775chromosome, centromeric region ----
    GO:0005634nucleus IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with MIS12           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).
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    SuperPaths for MIS12 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
    3Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92


    Find genes that share SuperPaths with MIS12           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for MIS12
        Resolution of Sister Chromatid Cohesion
    Mitotic Prometaphase
    Separation of Sister Chromatids


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MIS12
    Interactions:

        GeneGlobe Interaction Network for MIS12

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

    Selected Interacting proteins for MIS12 (Q9H0813 ENSP000003705574) via UniProtKB, MINT, STRING, and/or I2D (see all 95)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DSN1Q9H4103, ENSP000003628504I2D: score=4 STRING: ENSP00000362850
    ZWINTO952293, ENSP000003630554I2D: score=4 STRING: ENSP00000363055
    CASC5Q8NG313, ENSP000003354634I2D: score=3 STRING: ENSP00000335463
    FGAP026713, ENSP000003063614I2D: score=2 STRING: ENSP00000306361
    FGBP026753, ENSP000003060994I2D: score=2 STRING: ENSP00000306099
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0007049cell cycle ----
    GO:0007059chromosome segregation IMP12515822
    GO:0007067mitosis IEA--
    GO:0051382kinetochore assembly IDA16585270

    Find genes that share ontologies with MIS12           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MIS12



    (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 )
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    REFSEQ mRNAs for MIS12 gene (5 alternative transcripts): 
    NM_001258217.1  NM_001258218.1  NM_001258219.1  NM_001258220.1  NM_024039.2  

    Unigene Cluster for MIS12:

    MIS12, MIND kinetochore complex component, homolog (S. pombe)
    Hs.267194  [show with all ESTs]
    Unigene Representative Sequence: NM_001258217
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000576988 ENST00000576570 ENST00000573759(uc002gcd.3) ENST00000574186
    ENST00000381165(uc002gce.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MIS12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MIS12 (see all 11):
    hsa-miR-30c hsa-miR-30d hsa-miR-3617 hsa-miR-138-2* hsa-miR-7 hsa-miR-30a hsa-miR-641 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidMIS12 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MIS12
    Predesigned siRNA for gene silencing in human, mouse, rat MIS12
    Clone
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    OriGene clones in human, mouse for MIS12 (see all 6)
    OriGene ORF clones in mouse, rat for MIS12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MIS12 (NM_024039)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIS12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS12
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MIS12
    OriGene qSTAR qPCR primer pairs in human, mouse for MIS12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MIS12
      QuantiTect SYBR Green Assays in human, mouse, rat MIS12
      QuantiFast Probe-based Assays in human, mouse, rat MIS12

    Additional mRNA sequence: 

    AK056072.1 AK289939.1 AL136906.1 BC000229.1 CR533460.1 

    8 DOTS entries:

    DT.91947548  DT.100686000  DT.95082079  DT.97789599  DT.120915538  DT.97772191  DT.120915539  DT.120915568 

    Selected AceView cDNA sequences (see all 137):

    AA417097 AI686983 AA902903 AL136906 AI469551 NM_024039 BQ184651 CR617671 
    AA496666 AI652652 CR533460 AI912461 BG058769 AI024420 CK300602 AI582012 
    AI075913 BF439391 AW819741 F12700 AA308695 AI056242 BI837889 AK056072 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MIS12 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
    SP1:                          -     -     -     -     -     -     -                                                               
    SP2:              -     -     -     -     -     -     -     -     -     -     -     -                                             
    SP3:                          -     -     -     -     -     -     -     -     -     -                                             
    SP4:                                                  -     -     -     -     -     -                                             
    SP5:                          -     -     -     -     -     -     -     -     -     -     -     -                                 


    ECgene alternative splicing isoforms for MIS12

    (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)
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    MIS12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATATGTTT
    MIS12 Expression
    About this image


    MIS12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    MIS12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIS12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.267194
        Custom PCR Arrays for MIS12
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MIS12
    OriGene qSTAR qPCR primer pairs in human, mouse for MIS12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MIS12
    QuantiTect SYBR Green Assays in human, mouse, rat MIS12
    QuantiFast Probe-based Assays in human, mouse, rat MIS12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS12

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MIS12 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mis121 , 5 MIS12 homolog (yeast)1, 5 83.58(n)1
    79.31(a)1
      11 (43.21 cM)5
    671391  NM_025993.21  NP_080269.11 
     710196115 
    chicken
    (Gallus gallus)
    Aves MIS121 MIS12, MIND kinetochore complex component, homolog more 61.9(n)
    60.59(a)
      693254  NM_001044677.1  NP_001038142.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    38(a)
    35(a)
    many → 1
    many → 1
    2(191809880-191810494)
    1(193607259-193610479)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mis121 MIS12 kinetochore complex component 62.25(n)
    55.39(a)
      549562  NM_001016808.3  NP_001016808.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:641161 zgc:64116 50.69(n)
    39.58(a)
      393349  NM_200378.1  NP_956672.1 


    ENSEMBL Gene Tree for MIS12 (if available)
    TreeFam Gene Tree for MIS12 (if available)

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

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      --

    (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)
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    Selected SNPs for MIS12 (see all 94)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1414567431,2
    C--5391550(+) GGACAC/TTGGCA 5 -- ut51 int10--------
    rs1508602451,2
    --5391557(+) GGCAAC/TGGAGT 5 -- ut51 int10--------
    rs739738051,2
    C,F--5391579(+) TAGATC/TATGAG 5 -- ut51 int13Minor allele frequency- T:0.06WA CSA 122
    rs23093991,2
    C,F,A,H--5391690(+) ATATGA/GGTAAG 5 -- ut51 int1 ese331Minor allele frequency- G:0.22NS EA NA WA CSA 2913
    rs1393141601,2
    C--5391711(+) ATTGTA/GTAGGA 5 -- ut51 int10--------
    rs1847389631,2
    C--5391823(+) TGAGTC/TTCTAG 5 -- ut51 int10--------
    rs58190281,2
    C,F--5391979(+) GAGGC-/AAAGAG 5 -- int15Minor allele frequency- A:0.29NA CSA 14
    rs1427345071,2
    C--5392073(+) TCTGTA/TATGTG 5 -- int10--------
    rs3715411111,2
    C--5392100(+) TTTTT-/TCCAAA 5 -- int10--------
    rs1898042091,2
    C--5392152(+) TTCACG/AACTGA 5 -- ut511Minor allele frequency- A:0.00EU 1321

    HapMap Linkage Disequilibrium report for MIS12 (5389605 - 5394134 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MIS12:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1956CNV Loss18451855
    nsv528302CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIS12
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609178    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for MIS12:
    Microcephaly

    Find genes that share disorders with MIS12           About GenesLikeMe


    Export disorders for MIS12 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)
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    PubMed articles for MIS12 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with MIS12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human centromere chromatin protein hMis12, essential for equal segregation, is independent of CENP-A loading pathway. (PubMed id 12515822)1, 2, 3 Goshima G.... Yanagida M. (J. Cell Biol. 2003)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    3. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PubMed id 16585270)1, 2 Kline S.L.... Desai A. (J. Cell Biol. 2006)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Plk1 phosphorylates Sgt1 at the kinetochores to promote timely kinetochore-microtubule attachment. (PubMed id 22869522)1 Liu X.S....Liu X. (Mol. Cell. Biol. 2012)
    8. Aurora B controls kinetochore-microtubule attachments by inhibiting Ska complex-KMN network interaction. (PubMed id 22371557)1 Chan Y.W....Santamaria A. (J. Cell Biol. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 79003 HGNC: 24967 AceView: MIS12 Ensembl:ENSG00000167842 euGenes: HUgn79003
    ECgene: MIS12 H-InvDB: MIS12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MIS12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MIS12 gene:
    Search GeneIP for patents involving MIS12

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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