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

Gene ID: 74549, updated on 5-Mar-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 double-stranded DNA binding activity and protein N-terminus binding activity. Predicted to be involved in cohesin loading and maintenance of mitotic sister chromatid cohesion. Predicted to act upstream of or within cell division and chromosome segregation. 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, Apr 2022]
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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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 (23) 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
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cell division IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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 mitotic sister chromatid cohesion ISO
Inferred from Sequence Orthology
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 Scc2-Scc4 cohesin loading complex ISO
Inferred from Sequence Orthology
more info
  
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
part_of chromatin ISO
Inferred from Sequence Orthology
more info
  
located_in chromosome IEA
Inferred from Electronic Annotation
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 nucleus ISO
Inferred from Sequence Orthology
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, Z4YNA3
    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
    UniProtKB/TrEMBL
    Z4YNA3
    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
    UniProtKB/TrEMBL
    Z4YNA3
    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

    UniProtKB/TrEMBL
    Z4YNA3
    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

    UniProtKB/TrEMBL
    Z4YNA3
    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

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