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

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: human all
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Genomic context

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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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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)

NM_001033500.4 → NP_001028672.2 WD repeat-containing protein 72 isoform 1

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 ...
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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

74017608..74190485

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

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.