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    Mau2 MAU2 sister chromatid cohesion factor [ Mus musculus (house mouse) ]

    Gene ID: 74549, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mau2provided by MGI
    Official Full Name
    MAU2 sister chromatid cohesion factorprovided by MGI
    Primary source
    MGI:MGI:1921799
    See related
    Ensembl:ENSMUSG00000031858 AllianceGenome:MGI:1921799
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mau-2; mKIAA0892; 9130404D08Rik; A930019L04Rik
    Summary
    Predicted to enable cohesin loader activity and double-stranded DNA binding activity. Predicted to be involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human MAU2 (MAU2 sister chromatid cohesion factor). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 37.4), ovary adult (RPKM 33.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mau2 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.15 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (70465896..70495384, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (70014527..70042734, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene GATA zinc finger domain containing 2A Neighboring gene STARR-positive B cell enhancer ABC_E5012 Neighboring gene STARR-positive B cell enhancer ABC_E1367 Neighboring gene STARR-seq mESC enhancer starr_21753 Neighboring gene STARR-seq mESC enhancer starr_21758 Neighboring gene STARR-positive B cell enhancer ABC_E89 Neighboring gene STARR-seq mESC enhancer starr_21762 Neighboring gene nucleoside diphosphate kinase B pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E9314 Neighboring gene SURP and G patch domain containing 1 Neighboring gene transmembrane 6 superfamily member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I. Visnes T, et al. Chromosoma, 2014 Jun. PMID 24287868, Free PMC Article
    2. Neural crest cell-specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects. Smith TG, et al. Genesis, 2014 Jul. PMID 24700590
    3. Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. Remeseiro S, et al. Biochim Biophys Acta, 2013 Dec. PMID 23920377, Free PMC Article
    4. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
    5. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Absence of Mau2 in neural crest cells causes a severe disruption of craniofacial development.
      Title: Neural crest cell-specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects.
    2. In spermatocytes, Nipbl/Mau2 then relocalises to chromocenters, whereas in oocytes it remains bound to chromosomal axes throughout prophase to dictyate arrest.
      Title: Localisation of the SMC loading complex Nipbl/Mau2 during mammalian meiotic prophase I.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0892, MGC159271

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cohesin loader activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in maintenance of mitotic sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in maintenance of mitotic sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in maintenance of mitotic sister chromatid cohesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitotic sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic sister chromatid cohesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of SMC loading complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SMC loading complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of SMC loading complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of Scc2-Scc4 cohesin loading complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Scc2-Scc4 cohesin loading complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    MAU2 chromatid cohesion factor homolog
    Names
    Scc4-like protein
    cohesin loading complex subunit SCC4 homolog
    protein MAU-2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001167939.2 → NP_001161411.1  MAU2 chromatid cohesion factor homolog isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC167132
      Consensus CDS
      CCDS85550.1
      UniProtKB/TrEMBL
      A0A1D5RLR7
      Related
      ENSMUSP00000148479.2, ENSMUST00000212308.2
      Conserved Domains (3) summary
      sd00006
      Location:71 → 100
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:30 → 576
      Cohesin_load; Cohesin loading factor
      pfam14559
      Location:86 → 157
      TPR_19; Tetratricopeptide repeat

    2. NM_001376946.1 → NP_001363875.1  MAU2 chromatid cohesion factor homolog isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC167132
      UniProtKB/Swiss-Prot
      B7ZN38, Q059Q4, Q5DU12, Q78IR4, Q8BUW9, Q8BX04, Q9D2X5
      Related
      ENSMUSP00000148601.2, ENSMUST00000212451.2
      Conserved Domains (2) summary
      sd00006
      Location:71 → 100
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:30 → 576
      Cohesin_load; Cohesin loading factor

    3. NM_001376947.1 → NP_001363876.1  MAU2 chromatid cohesion factor homolog isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC167132
      Conserved Domains (2) summary
      sd00006
      Location:183 → 211
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:1 → 374
      Cohesin_load; Cohesin loading factor

    4. NM_001376948.1 → NP_001363877.1  MAU2 chromatid cohesion factor homolog isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC167132
      Conserved Domains (2) summary
      sd00006
      Location:183 → 211
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:25 → 373
      Cohesin_load; Cohesin loading factor

    5. NM_001376949.1 → NP_001363878.1  MAU2 chromatid cohesion factor homolog isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC167132
      Conserved Domains (2) summary
      sd00006
      Location:180 → 208
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:25 → 370
      Cohesin_load; Cohesin loading factor

    6. NM_028993.5 → NP_083269.4  MAU2 chromatid cohesion factor homolog isoform 2

      See identical proteins and their annotated locations for NP_083269.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This difference results in a protein (isoform 2) that is one amino acid shorter than isoform 1.
      Source sequence(s)
      AC167132
      Consensus CDS
      CCDS40364.1
      Related
      ENSMUSP00000054763.7, ENSMUST00000050561.13
      Conserved Domains (2) summary
      sd00006
      Location:71 → 100
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:30 → 575
      Cohesin_load; Cohesin loading factor

    RNA

    1. NR_165036.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC167132

    2. NR_165037.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC167132

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      70465896..70495384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154341.1 → XP_036010234.1  MAU2 chromatid cohesion factor homolog isoform X2

      Conserved Domains (2) summary
      sd00006
      Location:71 → 100
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:30 → 607
      Cohesin_load; Cohesin loading factor

    2. XM_036154340.1 → XP_036010233.1  MAU2 chromatid cohesion factor homolog isoform X1

      Conserved Domains (2) summary
      sd00006
      Location:71 → 100
      TPR; TPR repeat [structural motif]
      pfam10345
      Location:30 → 608
      Cohesin_load; Cohesin loading factor

    RNA

    1. XR_004934891.1 RNA Sequence

      Related
      ENSMUST00000212845.2
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D2X5.3 GenPept UniProtKB/Swiss-Prot:Q9D2X5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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