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    Wdr72 WD repeat domain 72 [ Mus musculus (house mouse) ]

    Gene ID: 546144, updated on 12-May-2024

    Summary

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    Official Symbol
    Wdr72provided by MGI
    Official Full Name
    WD repeat domain 72provided by MGI
    Primary source
    MGI:MGI:3583957
    See related
    Ensembl:ENSMUSG00000044976 AllianceGenome:MGI:3583957
    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
    D230040E23
    Summary
    Acts upstream of or within enamel mineralization; extracellular matrix disassembly; and protein localization to plasma membrane. Located in endosome and nucleus. Used to study amelogenesis imperfecta hypomaturation type 2A3. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A3. Orthologous to human WDR72 (WD repeat domain 72). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in kidney adult (RPKM 3.4), bladder adult (RPKM 0.6) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Wdr72 in Genome Data Viewer
    Location:
    9 D; 9 41.06 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (74017608..74190485)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (74110331..74283203)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene nuclear encoded rRNA 5S 86 Neighboring gene predicted gene, 33407 Neighboring gene STARR-seq mESC enhancer starr_24641 Neighboring gene STARR-seq mESC enhancer starr_24642 Neighboring gene STARR-seq mESC enhancer starr_24643 Neighboring gene STARR-seq mESC enhancer starr_24644 Neighboring gene nuclear receptor subfamily 1, group H, member 2, pseudogene Neighboring gene predicted gene, 24141

    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. WDR72 regulates vesicle trafficking in ameloblasts. Katsura K, et al. Sci Rep, 2022 Feb 18. PMID 35181734, Free PMC Article
    2. Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization. Husein D, et al. Sci Rep, 2022 Mar 17. PMID 35301423, Free PMC Article
    3. RUNX2 contributes to TGF-β1-induced expression of Wdr72 in ameloblasts during enamel mineralization. Liu X, et al. Biomed Pharmacother, 2019 Oct. PMID 31336344
    4. Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation. Wang SK, et al. Mol Genet Genomic Med, 2015 Jul. PMID 26247047, Free PMC Article
    5. WDR72 models of structure and function: a stage-specific regulator of enamel mineralization. Katsura KA, et al. Matrix Biol, 2014 Sep. PMID 25008349, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.
      Title: Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.
    2. TGF-beta1 affects enamel mineralization by modulating RUNX2 and thus affecting the expression of Wdr72.
      Title: RUNX2 contributes to TGF-β1-induced expression of Wdr72 in ameloblasts during enamel mineralization.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC175843, MGC175845

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within amelogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within biomineral tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within enamel mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within extracellular matrix disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WD repeat-containing protein 72

    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_001033500.4 → NP_001028672.2  WD repeat-containing protein 72 isoform 1

      See identical proteins and their annotated locations for NP_001028672.2

      Status: VALIDATED

      Source sequence(s)
      AC108944, AC111087
      Consensus CDS
      CCDS23338.2
      UniProtKB/Swiss-Prot
      D3YYM4
      Related
      ENSMUSP00000057320.8, ENSMUST00000055879.9
      Conserved Domains (2) summary
      sd00039
      Location:20 → 60
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:418 → 606
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001411342.1 → NP_001398271.1  WD repeat-containing protein 72 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC108944, AC111087
      UniProtKB/TrEMBL
      A0A1L1SR77
      Related
      ENSMUSP00000149349.2, ENSMUST00000215440.2

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      74017608..74190485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511283.2 → XP_006511346.1  WD repeat-containing protein 72 isoform X5

      Conserved Domains (2) summary
      sd00039
      Location:20 → 60
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:418 → 606
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_006511280.2 → XP_006511343.1  WD repeat-containing protein 72 isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:20 → 60
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:417 → 605
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_006511282.2 → XP_006511345.1  WD repeat-containing protein 72 isoform X4

      Conserved Domains (2) summary
      sd00039
      Location:20 → 60
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:405 → 593
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_006511279.2 → XP_006511342.1  WD repeat-containing protein 72 isoform X1

      See identical proteins and their annotated locations for XP_006511342.1

      UniProtKB/Swiss-Prot
      D3YYM4
      Conserved Domains (2) summary
      sd00039
      Location:20 → 60
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:418 → 606
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177908.2: Suppressed sequence

      Description
      NM_177908.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3YYM4.1 GenPept UniProtKB/Swiss-Prot:D3YYM4

    Gene LinkOut

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

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