Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

MIS18A Gene

protein-coding   GIFtS: 48
GCID: GC21M033641

MIS18 Kinetochore Protein Homolog A (S. Pombe)

(Previous names: chromosome 21 open reading frame 46, chromosome 21 open...)
(Previous symbols: C21orf46, C21orf45)
  See related diseases
at  

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

Aliases
MIS18 Kinetochore Protein Homolog A (S. Pombe)1 2     Chromosome 21 Open Reading Frame 461
C21orf451 2 3     B282
C21orf461 2 3     MIS18alpha2
FASP12 3     hMis18alpha2
FAPP1-Associated Protein 12 3     Protein Mis18-Alpha2
Chromosome 21 Open Reading Frame 451     

External Ids:    HGNC: 12861   Entrez Gene: 540692   Ensembl: ENSG000001590557   UniProtKB: Q9NYP93   

Export aliases for MIS18A gene to outside databases


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

GeneCards Summary for MIS18A Gene: 
MIS18A (MIS18 kinetochore protein homolog A (S. pombe)) is a protein-coding gene. Diseases associated with MIS18A include down syndrome, and schizophrenia, and among its related super-pathways are Packaging Of Telomere Ends and Cell Cycle, Mitotic. GO annotations related to this gene include molecular_function.

UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9
Function: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis

Gene Wiki entry for MIS18A (C21orf45) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MIS18A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MIS18A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MIS18A


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.11

MIS18A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIS18A gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21M033641:  view genomic region     (about GC identifiers)

Start:
33,640,530 bp from pter      End:
33,651,380 bp from pter
Size:
10,851 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9 (See protein sequence)
Recommended Name: Protein Mis18-alpha  
Size: 233 amino acids; 25863 Da
Subunit: Homodimer, and heterodimer with MIS18B. Identified in a complex containing MIS18A, MIS18B, MIS18BP1,
RBBP7 and RBBP4
Subcellular location: Nucleus. Chromosome. Chromosome, centromere. Note=Associated with centromeres in interphase
cells, from late anaphase to the G1 phase. Not detected on centromeres during earlier phases of mitosis.
Associated with chromatin
Secondary accessions: B2R562 Q542Z0

Explore the universe of human proteins at neXtProt for MIS18A: NX_Q9NYP9

Explore proteomics data for MIS18A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NYP9

  • MIS18A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MIS18A Protein Expression
    REFSEQ proteins: NP_061817.1  
    ENSEMBL proteins: 
     ENSP00000290130  
    Reactome Protein details: Q9NYP9
    Human Recombinant Protein Products for MIS18A: 
    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 MIS18A
    GenScript Custom Purified and Recombinant Proteins Services for MIS18A
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000775chromosome, centromeric region IEA--
    GO:0005575cellular_component ND--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--

    MIS18A for ontologies           About GeneDecksing



    MIS18A 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 MIS18A
    GenScript Custom Superior Antibodies Services for MIS18A
    Novus Biologicals MIS18A Antibodies
    Abcam antibodies for MIS18A
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for MIS18A
    LSBio Antibodies in human, mouse, rat for MIS18A 

    Assay Products for MIS18A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MIS18A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MIS18A
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    ProtoNet protein and cluster: Q9NYP9

    UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9
    Similarity: Belongs to the mis18 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MS18A_HUMAN, Q9NYP9
    Function: Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    MIS18A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MIS18A:
     Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mis18a):
     cellular  embryogenesis  mortality/aging  no phenotypic analysis 

    MIS18A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mis18atm1.2Kiik for MIS18A

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MIS18A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MIS18A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MIS18A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MIS18A 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MIS18A
    1 QIAGEN miScript miRNA Assays for microRNA that regulate MIS18A:
    hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidMIS18A 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MIS18A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MIS18A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MIS18A
    Sirion Biotech Customized adenovirus for overexpression of MIS18A

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MIS18A (see all 8)
    OriGene ORF clones in mouse, rat for MIS18A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MIS18A (NM_018944)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIS18A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS18A
    Sirion Biotech Customized lentivirus for stable overexpression of MIS18A 
                         Customized lentivirus expression plasmids for stable overexpression of MIS18A 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MIS18A
    Search LifeMap BioReagents cell lines for MIS18A
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS18A


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

    SuperPaths for MIS18A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Nucleosome assembly0.46
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.46
    2Cell Cycle
    Cell Cycle0.84
    3Meiotic Synapsis
    Chromosome Maintenance0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for MIS18A
        Nucleosome assembly
    Cell Cycle
    Deposition of New CENPA-containing Nucleosomes at the Centromere
    Chromosome Maintenance



    MIS18A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MIS18A

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

    5/26 Interacting proteins for MIS18A (Q9NYP93 ENSP000002901304) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDEL1Q9GZM83, ENSP000003339824I2D: score=2 STRING: ENSP00000333982
    OIP5O434823, ENSP000002205144I2D: score=1 STRING: ENSP00000220514
    CASC5ENSP000003354634STRING: ENSP00000335463
    CENPAENSP000003368684STRING: ENSP00000336868
    CENPHENSP000002830064STRING: ENSP00000283006
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly TAS--
    GO:0007067mitosis IEA--
    GO:0008150biological_process ND--
    GO:0034080CENP-A containing nucleosome assembly at centromere TAS--
    GO:0051301cell division IEA--

    MIS18A for ontologies           About GeneDecksing



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

    Browse Tocris compounds for MIS18A (MS18A)

    Search CenterWatch for drugs/clinical trials and news about MIS18A / MS18A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MIS18A gene: 
    NM_018944.2  

    Unigene Cluster for MIS18A:

    MIS18 kinetochore protein homolog A (S. pombe)
    Hs.190518  [show with all ESTs]
    Unigene Representative Sequence: NM_018944
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290130(uc002ypi.3) ENST00000486363
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MIS18A
    1 QIAGEN miScript miRNA Assays for microRNA that regulate MIS18A:
    hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidMIS18A 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MIS18A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MIS18A
    Clone
    Products:
         
    OriGene clones in human, mouse for MIS18A (see all 8)
    OriGene ORF clones in mouse, rat for MIS18A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MIS18A (NM_018944)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIS18A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS18A
    Sirion Biotech Customized lentivirus for stable overexpression of MIS18A 
                         Customized lentivirus expression plasmids for stable overexpression of MIS18A 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MIS18A
    OriGene qSTAR qPCR primer pairs in human, mouse for MIS18A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MIS18A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MIS18A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MIS18A

    Additional mRNA sequence: 

    AF231921.1 AF387845.1 AK075281.1 AK312073.1 BC042917.1 

    5 DOTS entries:

    DT.442708  DT.95270777  DT.121138506  DT.95270775  DT.442707 

    24/96 AceView cDNA sequences (see all 96):

    BQ022599 BI226071 BF109083 AA807728 BC042917 AA709257 BQ014318 BQ051963 
    BE275345 BX119805 NM_018944 AF231921 BE796164 AF387845 CK902536 BF059324 
    BU623181 CA418285 AI652030 BM758045 BM749264 AA371149 BG753684 BF003090 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MIS18A expression in normal human tissues (normalized intensities)      MIS18A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATCTTCTC
    MIS18A Expression
    About this image


    MIS18A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Hair (Integumentary System)
             mouse/organ system/integumental system   
     
     Umbilical Cord (Extraembryonic Tissues)
             cord blood   

    See MIS18A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MIS18A

    SOURCE GeneReport for Unigene cluster: Hs.190518

    UniProtKB/Swiss-Prot: MS18A_HUMAN, Q9NYP9
    Tissue specificity: Detected in testis

        SABiosciences Custom PCR Arrays for MIS18A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MIS18A
    OriGene qSTAR qPCR primer pairs in human, mouse for MIS18A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MIS18A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MIS18A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MIS18A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS18A

    (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 MIS18A gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mis18a1 , 5 RIKEN cDNA 2610039C10 gene5
    MIS18 kinetochore protein homolog A (S. pombe)1
    80.23(n)1
    78.39(a)1
      16 (51.87 cM)5
    665781  NM_025642.11  NP_079918.11 
     907193125 
    chicken
    (Gallus gallus)
    Aves MIS18A1 MIS18 kinetochore protein homolog A (S. pombe) 67.52(n)
    61.54(a)
      418494  XM_416702.3  XP_416702.1 
    lizard
    (Anolis carolinensis)
    Reptilia MIS18A6
    Uncharacterized protein
    45(a)
    1 ↔ 1
    3(145377006-145385992)
    zebrafish
    (Danio rerio)
    Actinopterygii mis18a1 MIS18 kinetochore protein homolog A (S. pombe) 50.39(n)
    40(a)
      553502  XM_002663588.1  XP_002663634.1 


    ENSEMBL Gene Tree for MIS18A (if available)
    TreeFam Gene Tree for MIS18A (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/285 SNPs in MIS18A are shown (see all 285)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497754471,2
    --33640079(+) TACATC/TGAGCT 1 -- ds50010--------
    rs1457263181,2
    C--33640116(+) CCAGCA/GGGTGT 1 -- ds50010--------
    rs1489229111,2
    C--33640182(+) AGAACA/GCCTAA 1 -- ds50010--------
    rs1856764941,2
    C--33640200(+) ACTCAA/GCGTTA 1 -- ds50010--------
    rs1174585671,2
    C,F--33640218(+) CTGTCG/AACAAT 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1905500131,2
    --33640333(+) GCAAAC/TGCTGA 1 -- ds50010--------
    rs759748961,2
    --33640365(+) TGTTCC/TGTGAC 1 -- ds50010--------
    rs731911571,2
    --33640366(+) GTTCCA/GTGACC 1 -- ds50010--------
    rs1158823531,2
    F--33640462(+) AGTAAT/GGTGTG 1 -- ds50011Minor allele frequency- G:0.03WA 118
    rs31779921,2
    C--33640543(-) TTAAAA/CCAAAG 1 -- ut31 ese31Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for MIS18A (33640530 - 33651380 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MIS18A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv510795CNV Loss20534489
    nsv834084CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MIS18A
    DNA2.0 Custom Variant and Variant Library Synthesis for MIS18A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for MIS18A:    About MalaCards
    down syndrome    schizophrenia


    MIS18A for disorders           About GeneDecksing


    Export disorders for MIS18A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MIS18A gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with MIS18A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Priming of centromere for CENP-A recruitment by human hMis18alpha, hMis18beta, and M18BP1. (PubMed id 17199038)1, 2, 3 Fujita Y....Yanagida M. (2007)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    3. 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. (2004)
    4. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PubMed id 10773462)1, 2 Slavov D.... Gardiner K. (2000)
    5. PP5644 interacts with phosphatidylinositol-4-phosphate adaptor protein-1 associated protein-1. (PubMed id 15881666)1, 9 Ye X.-X.... Gu J.-R. (2005)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 54069 HGNC: 1286 AceView: C21orf45 Ensembl:ENSG00000159055 euGenes: HUgn54069
    ECgene: MIS18A H-InvDB: MIS18A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MIS18A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MIS18A gene:
    Search GeneIP for patents involving MIS18A

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for MIS18A  
     OriGene qPCR primer pairs and template standards for MIS18A   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MIS18A  
     OriGene qSTAR qPCR primer pairs in human, mouse for MIS18A   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MIS18A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MIS18A   OriGene Custom Protein Services for MIS18A  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MIS18A
     QIAGEN SeqTarget long-range PCR primers for resequencing MIS18A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MIS18A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MIS18A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MIS18A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MIS18A
     GenScript Custom Purified and Recombinant Proteins Services for MIS18A GenScript cDNA clones with any tag delivered in your preferred vector for MIS18A
     GenScript Custom Assay Services for MIS18A GenScript Custom Superior Antibodies Services for MIS18A
     GenScript Custom overexpressing Cell Line Services for MIS18A 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 Regulatory tfbs for MIS18A
     Search Chromatin IP Primers for MIS18A
     RT2 qPCR Primer Assay in human, mouse, rat MIS18A
     Search GNC Networks for MIS18A
     SABiosciences Custom PCR Arrays for MIS18A
     Search Tocris compounds for MIS18A (MS18A)
     Browse Sino Biological Proteins and Antibodies
     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
     MIS18A antibodies
     Antibodies for MIS18A
     See all of Abcam's Antibodies, Kits and Proteins for MIS18A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for MIS18A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIS18A
     SwitchGear 3'UTR luciferase reporter plasmids for MIS18A
     Browse SwitchGear Promoter luciferase reporter plasmids for MIS18A
     Search ThermoFisher Antibodies for MIS18A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIS18A
     inGenious Targeting Laboratory - Custom generated mouse model solutions for MIS18A
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MIS18A
    Customized:
     lentivirus for stable overexpression of MIS18A
     lentivirus expression plasmids for stable overexpression of MIS18A
     adenovirus for overexpression of MIS18A
     LSBio Antibodies in human, mouse, rat for MIS18A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      MIS18A gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4