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

    Gene ID: 546144, updated on 9-Dec-2024

    Summary

    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 several processes, including ameloblast differentiation; enamel mineralization; and protein-containing complex assembly. 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, Dec 2024]
    Expression
    Biased expression in kidney adult (RPKM 3.4), bladder adult (RPKM 0.6) and 3 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 ameloblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within amelogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 extracellular matrix organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization 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 regulation of pH IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ruffle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within tubulin complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vesicle organization 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 endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    WD repeat-containing protein 72

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001033500.4NP_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:2060
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:418606
      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_001411342.1NP_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_006511283.2XP_006511346.1  WD repeat-containing protein 72 isoform X5

      Conserved Domains (2) summary
      sd00039
      Location:2060
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:418606
      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_006511280.2XP_006511343.1  WD repeat-containing protein 72 isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:2060
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:417605
      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_006511282.2XP_006511345.1  WD repeat-containing protein 72 isoform X4

      Conserved Domains (2) summary
      sd00039
      Location:2060
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:405593
      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_006511279.2XP_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:2060
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:418606
      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.