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

Gene ID: 546144, updated on 18-Sep-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 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 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

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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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