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

MAU2 Gene

protein-coding   GIFtS: 48
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

Aliases
MAU2 Sister Chromatid Cohesion Factor1 2     MAU2L2
KIAA08921 2 3     mau-22
Sister Chromatid Cohesion 41 2     MAU2 Chromatid Cohesion Factor Homolog2
Cohesin Loading Complex Subunit SCC4 Homolog2 3     Protein MAU-22
SCC42 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Mitotic M-M/G1 phases and Cell Cycle, Mitotic. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MAU2
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
19,431,623 bp from pter      End:
19,469,563 bp from pter
Size:
37,941 bases      Orientation:
plus 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: 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
Subcellular location: Nucleus, nucleoplasm. Note=Binds to chromatin from the end of mitosis until prophase
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6X3

  • MAU2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MAU2 Protein Expression
    REFSEQ proteins: NP_056144.3  
    ENSEMBL proteins: 
     ENSP00000376127   ENSP00000262815  
    Reactome Protein details: Q9Y6X3
    Human Recombinant Protein Products for MAU2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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: 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 (GO ID links to tree view):    About this table

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


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    (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 MAU2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1M Phase
    M Phase0.88
    Mitotic M-M/G1 phases0.88
    2Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    3Cohesin Loading onto Chromatin
    Cohesin Loading onto Chromatin0.71
    Mitotic Telophase/Cytokinesis0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6        Reactome Pathways for MAU2 (see all 6)
        Cohesin Loading onto Chromatin
    Mitotic Telophase/Cytokinesis
    Cell Cycle
    M Phase
    Mitotic M-M/G1 phases



    MAU2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0000910cytokinesis ----
    GO:0034088maintenance of mitotic sister chromatid cohesion IMP16682347
    GO:0051301cell division IEA--

    MAU2 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 MAU2 (SCC4)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
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    About This Section

    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
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392313(uc002nmk.4) ENST00000586189 ENST00000592069 ENST00000585823
    ENST00000590837 ENST00000587938 ENST00000262816 ENST00000587638 ENST00000587362
    ENST00000587709 ENST00000589947 ENST00000590882 ENST00000499453 ENST00000589637
    ENST00000605964 ENST00000262815(uc002nml.4 uc010ecd.3 uc010ece.3)

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    Additional mRNA sequence: 

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

    24/25 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 

    24/277 AceView cDNA sequences (see all 277):

    BU741836 AA576754 AI625466 BQ712036 T16104 AL042074 CA444095 BI492808 
    CD515841 BM979259 H98961 CA423498 CA436203 AL709585 CK905164 AW179140 
    H13991 AW179131 AL042075 AI797960 BM666777 AI073860 AI916424 BM694989 

    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

    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 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Neural Tube (Nervous System)
             Telencephalon

    See MAU2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAU2

    SOURCE GeneReport for Unigene cluster: Hs.654939
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    In Situ
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    (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 animals.

    Orthologs for MAU2 gene from 7/15 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 89.96(n)1
    99.84(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) 81.4(n)
    94.44(a)
      428348  XM_425908.3  XP_425908.2 
    lizard
    (Anolis carolinensis)
    Reptilia MAU26
    Uncharacterized protein
    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 chromatid cohesion factor homolog (C. elegans) 81.41(n)
    90.28(a)
      794129  XM_001333995.4  XP_001334031.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG42031 CG4203 58.68(n)
    50.68(a)
      41830  NM_142171.3  NP_650428.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mau-21 Protein MAU-2 35.84(n)
    23.49(a)
      172598  NM_059827.3  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
      --

    (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

    10/779 SNPs in MAU2 are shown (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 (19431623 - 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

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    (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
    OMIM gene information: 614560    OMIM disorders: --

    2 diseases for MAU2:    About MalaCards
    cornelia de lange syndrome    tongue cancer

    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)
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    PubMed articles for MAU2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with MAU2)
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    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. (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. (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. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. (PubMed id 21934712)1 Braunholz D....Kaiser F.J. (2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. NOTCH1 nuclear interactome reveals key regulators of i ts transcriptional activity and oncogenic function. (PubMed id 23022380)1 Yatim A....Benkirane M. (2012)
    9. 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)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23383 HGNC: 29140 AceView: KIAA0892 Ensembl:ENSG00000129933 euGenes: HUgn23383
    ECgene: MAU2 H-InvDB: MAU2

    (According to HUGE)
    About This Section
    HUGE: KIAA0892

    (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 MAU2 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 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



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