WDR72 Gene Summary [Human]

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Details

Type
Processed Transcript
Official Symbol
WDR72
Official Name
WD repeat domain 72 [Source:HGNC Symbol;Acc:HGNC:26790]
Ensembl ID
ENSG00000166415
Bio databases IDs NCBI: 256764 Ensembl: ENSG00000166415
Aliases WD repeat domain 72
Synonyms AI2A3, AW558070, D230040E23, RGD1563550, WD repeat domain 72
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WDR72 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • WD40 repeats
  • WD domain, G-beta repeat
  • WD40

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • COVID-19
  • hypomaturation type amelogenesis imperfecta type IIA3
  • chronic kidney disease
  • amelogenesis imperfecta
  • renal clear cell adenocarcinoma
  • renal clear cell cancer
  • hepatocellular carcinoma
  • liver cancer
  • non-insulin-dependent diabetes mellitus
regulated by
role in cell
  • cell death
  • pH
  • differentiation
  • polymerization
  • organization
  • disassembly

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Nucleus
  • endosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human WDR72 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • enamel mineralization
  • extracellular matrix disassembly
  • protein localization in plasma membrane

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • endosome
  • cytoplasm

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.