Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MAU2 Gene

protein-coding   GIFtS: 50
GCID: GC19P019433

MAU2 Sister Chromatid Cohesion Factor

(Previous names: KIAA0892, MAU2 chromatid cohesion factor homolog (C. elegans))
(Previous symbol: KIAA0892)
  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

TryGeneCards Plus

Aliases
MAU2 Sister Chromatid Cohesion Factor1 2     MAU2L2
KIAA08921 2 3 5     mau-22
SCC42 3 5     MAU2 Chromatid Cohesion Factor Homolog2
Sister Chromatid Cohesion 41 2     Protein MAU-22
Cohesin Loading Complex Subunit SCC4 Homolog2 3     MAU-23
MAU2 Chromatid Cohesion Factor Homolog (C. Elegans)1     

External Ids:    HGNC: 291401   Entrez Gene: 233832   Ensembl: ENSG000001299337   OMIM: 6145605   UniProtKB: Q9Y6X33   

Export aliases for MAU2 gene to outside databases

Previous GC identifer: GC19P018994


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

TryGeneCards Plus

GeneCards Summary for MAU2 Gene:
MAU2 (MAU2 sister chromatid cohesion factor) is a protein-coding gene. Diseases associated with MAU2 include cornelia de lange syndrome, and tongue cancer. GO annotations related to this gene include protein N-terminus binding.

UniProtKB/Swiss-Prot: SCC4_HUMAN, Q9Y6X3
Function: Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister
chromatid cohesion and normal progression through prometaphase




(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:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MAU2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MAU2 promoter sequence
   Search Chromatin IP Primers for MAU2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAU2


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

MAU2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAU2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P019433:  view genomic region     (about GC identifiers)

Start:
19,431,490 bp from pter      End:
19,469,563 bp from pter
Size:
38,074 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SCC4_HUMAN, Q9Y6X3 (See protein sequence)
Recommended Name: MAU2 chromatid cohesion factor homolog  
Size: 613 amino acids; 69082 Da
Subunit: Interacts (via N-terminus) with NIPBL to form the cohesin loading complex
Sequence caution: Sequence=BAA74915.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q66PT1 Q6P3S7 Q6ZTT2 Q9UFX8
Alternative splicing: 3 isoforms:  Q9Y6X3-1   Q9Y6X3-2   Q9Y6X3-3   

Explore the universe of human proteins at neXtProt for MAU2: NX_Q9Y6X3

Explore proteomics data for MAU2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys80, Lys91, Lys353
  • Modification sites at PhosphoSitePlus

  • See MAU2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056144.3  
    ENSEMBL proteins: 
     ENSP00000376127   ENSP00000477034   ENSP00000477436   ENSP00000262815  
    Reactome Protein details: Q9Y6X3

    MAU2 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
    OriGene Protein Over-expression Lysate for MAU2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MAU2
    GenScript Custom Purified and Recombinant Proteins Services for MAU2
    Novus Biologicals MAU2 Protein
    Novus Biologicals MAU2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    MAU2 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 MAU2
    Novus Biologicals MAU2 Antibodies
    Abcam antibodies for MAU2
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for MAU2
    LSBio Antibodies in human, mouse, rat for MAU2

    MAU2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MAU2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAU2
    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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR019440 Cohesin_loading_factor

    Graphical View of Domain Structure for InterPro Entry Q9Y6X3

    ProtoNet protein and cluster: Q9Y6X3

    UniProtKB/Swiss-Prot: SCC4_HUMAN, Q9Y6X3
    Similarity: Belongs to the SCC4/mau-2 family
    Similarity: Contains 4 TPR repeats


    MAU2 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCC4_HUMAN, Q9Y6X3
    Function: Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister
    chromatid cohesion and normal progression through prometaphase

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16682347
    GO:0047485protein N-terminus binding IPI16802858
         
    MAU2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAU2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAU2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAU2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAU2

    miRNA
    Products:
        
    miRTarBase miRNAs that target MAU2:
    hsa-mir-92a-3p (MIRT049605), hsa-mir-615-3p (MIRT040031)

    Block miRNA regulation of human, mouse, rat MAU2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAU2 (see all 18):
    hsa-miR-30c hsa-miR-1226 hsa-miR-29c hsa-miR-29a hsa-miR-1278 hsa-miR-30d hsa-miR-124 hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAU2
    Predesigned siRNA for gene silencing in human, mouse, rat MAU2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MAU2

    Clone
    Products:
         
    OriGene clones in human, mouse for MAU2 (see all 8)
    OriGene ORF clones in mouse, rat for MAU2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAU2 (NM_015329)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAU2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAU2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MAU2
    Browse ESI BIO Cell Lines and PureStem Progenitors for MAU2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAU2


    (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
    SCC4_HUMAN, Q9Y6X3: Nucleus, nucleoplasm. Note=Binds to chromatin from the end of mitosis until prophase
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin IDA16682347
    GO:0005634nucleus IDA16682347
    GO:0005654nucleoplasm TAS--
    GO:0032116SMC loading complex IMP16802858

    MAU2 for ontologies           About GeneDecksing


    (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 MAU2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2Mitotic Telophase/Cytokinesis
    Mitotic Telophase/Cytokinesis
    Cohesin Loading onto Chromatin0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MAU2
        Cohesin Loading onto Chromatin



    MAU2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAU2
    Interactions:

        Search GeneGlobe Interaction Network for MAU2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for MAU2 (Q9Y6X33 ENSP000003761274) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NIPBLQ6KC793, ENSP000002825164I2D: score=3 STRING: ENSP00000282516
    CBX5ENSP000002098754STRING: ENSP00000209875
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0034088maintenance of mitotic sister chromatid cohesion IMP16682347

    MAU2 for ontologies           About GeneDecksing



    (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 MAU2 (SCC4)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MAU2 gene: 
    NM_015329.3  

    Unigene Cluster for MAU2:

    MAU2 chromatid cohesion factor homolog (C. elegans)
    Hs.654939  [show with all ESTs]
    Unigene Representative Sequence: NM_015329
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392313(uc002nmk.4) ENST00000609122 ENST00000586189 ENST00000592069
    ENST00000609060 ENST00000585823 ENST00000590837 ENST00000587938 ENST00000262816
    ENST00000587638 ENST00000587362 ENST00000587709 ENST00000589947 ENST00000590882
    ENST00000499453 ENST00000589637 ENST00000262815(uc002nml.4 uc010ecd.3 uc010ece.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAU2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAU2 (see all 18):
    hsa-miR-30c hsa-miR-1226 hsa-miR-29c hsa-miR-29a hsa-miR-1278 hsa-miR-30d hsa-miR-124 hsa-miR-30a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAU2
    Predesigned siRNA for gene silencing in human, mouse, rat MAU2
    Clone
    Products:
         
    OriGene clones in human, mouse for MAU2 (see all 8)
    OriGene ORF clones in mouse, rat for MAU2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAU2 (NM_015329)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAU2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAU2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MAU2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAU2
      QuantiTect SYBR Green Assays in human, mouse, rat MAU2
      QuantiFast Probe-based Assays in human, mouse, rat MAU2

    Additional mRNA sequence: 

    AB020699.1 AK001349.1 AK025896.1 AK098275.1 AK125914.1 AK126227.1 AK128029.1 AL110250.1 
    BC010222.1 BC063863.1 

    Selected DOTS entries (see all 25):

    DT.451702  DT.100025463  DT.70103312  DT.95243372  DT.97815064  DT.101984273  DT.100025462  DT.100779923 
    DT.97836753  DT.100779927  DT.92020670  DT.100779928  DT.75181304  DT.121492900  DT.100690517  DT.121492616 
    DT.121492800  DT.121492825  DT.100766856  DT.121492735  DT.92436040  DT.95342267  DT.99955923  DT.95165279 

    Selected AceView cDNA sequences (see all 277):

    CA423498 AL040221 CK905164 BI492808 AW179131 CA436203 AL042074 BM694989 
    AI797960 CD515841 T16104 AL709585 BU617329 BQ712036 CA444095 AI160434 
    AL110250 BM979259 BU741836 AK126227 CD671155 H13991 H98961 AI916424 

    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™, 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

    MAU2 expression in normal human tissues (normalized intensities)      MAU2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCACCCTGT
    MAU2 Expression
    About this image


    MAU2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Larynx (Respiratory System)
    MAU2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAU2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654939
        Custom PCR Arrays for MAU2
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MAU2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAU2
    QuantiTect SYBR Green Assays in human, mouse, rat MAU2
    QuantiFast Probe-based Assays in human, mouse, rat MAU2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAU2

    (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 animals.

    Orthologs for MAU2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mau21 , 5 MAU2 chromatid cohesion factor homolog (C. elegans)1, 5 90.23(n)1
    99.83(a)1
      8 (34.15 cM)5
    745491  NM_028993.41  NP_083269.41 
     700161235 
    chicken
    (Gallus gallus)
    Aves MAU21 MAU2 chromatid cohesion factor homolog (C. elegans) 82.6(n)
    97.29(a)
      428348  XM_425908.4  XP_425908.2 
    lizard
    (Anolis carolinensis)
    Reptilia MAU26
    MAU2 sister chromatid cohesion factor
    66(a)
    1 ↔ 1
    AAWZ02038736(420-10574)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.299502 Xenopus laevis transcribed sequence with strong similarity more 77.97(n)    BJ095636.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mau21 MAU2 sister chromatid cohesion factor 79.6(n)
    87.34(a)
      794129  XM_001333995.5  XP_001334031.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42031 CG4203 59.09(n)
    51.39(a)
      41830  NM_142171.4  NP_650428.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mau-21 mau-2 35.96(n)
    24.36(a)
      172598  NM_059827.4  NP_492228.1 


    ENSEMBL Gene Tree for MAU2 (if available)
    TreeFam Gene Tree for MAU2 (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 MAU2 (see all 779)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1856591111,2
    --19433334(+) GCCCCA/GGGAGG 1 -- int10--------
    rs1139945061,2
    F--19433382(+) CCAGCC/GTTGGT 1 -- int11Minor allele frequency- G:0.01WA 118
    rs753422911,2
    C,F--19433530(+) CTGTCC/GTGCTT 1 -- int11Minor allele frequency- G:0.05WA 118
    rs1401172311,2
    --19433580(+) AAACTC/TATTAA 1 -- int10--------
    rs1901668641,2
    --19433608(+) CCCACA/CCTCAG 1 -- int10--------
    rs48089451,2
    C,A--19433752(+) TGTAGT/CGCAAT 1 -- int111Minor allele frequency- C:0.00NA WA CSA EA 256
    rs1458670491,2
    C--19433831(+) AGTAGA/CTGGGA 1 -- int10--------
    rs1171499761,2
    C,F--19433889(+) GAGACG/AGGTTC 1 -- int11Minor allele frequency- A:0.01NA 120
    rs588339861,2
    C--19434042(+) CACCA-/CACCA 
            
    GGCTG
    1 -- int10--------
    rs679686751,2
    C--19434043(+) TTGTC-/CACCA 
            
    ACCAG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for MAU2 (19431490 - 19469563 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MAU2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1173984CNV Insertion17803354
    nsv911305CNV Loss21882294
    nsv911303CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAU2
    DNA2.0 Custom Variant and Variant Library Synthesis for MAU2

    (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

    TryGeneCards Plus
    OMIM gene information: 614560    OMIM disorders: --

    4 diseases for MAU2:    About MalaCards
    cornelia de lange syndrome    tongue cancer    malaria    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for MAU2:
    Tongue cancer     Cornelia de Lange syndrome

    MAU2 for disorders           About GeneDecksing


    Export disorders for MAU2 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 MAU2 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with MAU2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    2. Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon migration guidance. (PubMed id 16802858)1, 2 Seitan V.C....Strachan T. (PLoS Biol. 2006)
    3. Human Scc4 is required for cohesin binding to chromatin, sister- chromatid cohesion, and mitotic progression. (PubMed id 16682347)1, 2 Watrin E....Peters J.M. (Curr. Biol. 2006)
    4. 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)
    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. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
    7. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. (PubMed id 21934712)1 Braunholz D....Kaiser F.J. (Eur. J. Hum. Genet. 2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. NOTCH1 nuclear interactome reveals key regulators of its transcriptional activity and oncogenic function. (PubMed id 23022380)1 Yatim A....Benkirane M. (Mol. Cell 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

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

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 23383 HGNC: 29140 AceView: KIAA0892 Ensembl:ENSG00000129933 euGenes: HUgn23383
    ECgene: MAU2 H-InvDB: MAU2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0892

    (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 MAU2 Pharmacogenomics, SNPs, Pathways

    (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 MAU2 gene:
    Search GeneIP for patents involving MAU2

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 MAU2  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for MAU2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MAU2  
     OriGene qSTAR qPCR primer pairs in human, mouse for MAU2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MAU2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MAU2   OriGene Custom Protein Services for MAU2  

     
     
     Block miRNA regulation of human, mouse, rat MAU2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MAU2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAU2 Predesigned siRNA for gene silencing in human, mouse, rat MAU2
     QuantiFast Probe-based Assays in human, mouse, rat MAU2 QuantiTect SYBR Green Assays in human, mouse, rat MAU2
     Custom PCR Arrays for MAU2 Search Chromatin IP Primers for MAU2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAU2  Search GeneGlobe Interaction Network for MAU2
     Search Regulatory tfbs for MAU2
     GenScript Custom Purified and Recombinant Proteins Services for MAU2 GenScript cDNA clones with any tag delivered in your preferred vector for MAU2
     GenScript Custom Assay Services for MAU2 GenScript Custom overexpressing Cell Line Services for MAU2
     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 MAU2 (SCC4)
     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
     MAU2 antibodies
     MAU2 proteins
     MAU2 lysates
     Antibodies for MAU2
     See all of Abcam's Antibodies, Kits and Proteins for MAU2
     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.



     Browse ESI BIO Cell Lines and PureStem Progenitors for MAU2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAU2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for MAU2
     SwitchGear Promoter luciferase reporter plasmids for MAU2
     Search ThermoFisher Antibodies for MAU2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAU2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAU2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAU2
     LSBio Antibodies in human, mouse, rat for MAU2
    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
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 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      MAU2 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4