Fuz Gene Summary [Mouse]

Enables phosphatidylinositol binding activity. Involved in several processes, including embryonic morphogenesis; non-motile cilium assembly; and regulation of signal transduction. Acts upstream of or within several processes, including circulatory system development; embryonic morphogenesis; and regionalization. Predicted to be located in cilium. Is expressed in several structures, including central nervous system; neural ectoderm; and notochord. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human FUZ (fuzzy planar cell polarity protein). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Fuz
Official Name
fuzzy planar cell polarity protein [Source:MGI Symbol;Acc:MGI:1917550]
Ensembl ID
ENSMUSG00000011658
Bio databases IDs NCBI: 70300 Ensembl: ENSMUSG00000011658
Aliases fuzzy planar cell polarity protein
Synonyms 2600013E07Rik, b2b1273Clo, CPLANE3, fuzzy planar cell polarity, fuzzy planar cell polarity protein, FY, NTD, RGD1310608
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Fuz often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Third Longin domain of FUZ, MON1 and HPS1
  • First Longin domain of FUZ, MON1 and HPS1
  • protein binding
  • protein fuzzy and homologs
  • phosphatidylinositol binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • spinocerebellar ataxia type 3
  • neural tube defect
  • short-rib thoracic dysplasia type 6
  • congenital malformation
  • polydactyly
  • congenital heart disease
  • ciliopathy
role in cell
  • formation
  • phosphorylation in
  • apoptosis
  • activation in
  • molecular cleavage in
  • proliferation
  • migration
  • ciliogenesis
  • assembly
  • formation in

Subcellular Expression

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

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • neural tube development
  • cilium morphogenesis
  • negative regulation of neural crest formation
  • embryonic body morphogenesis
  • negative regulation of cell proliferation
  • protein transport
  • positive regulation of flagellum assembly
  • embryonic skeletal system morphogenesis
  • regulation of smoothened signaling pathway
  • negative regulation of canonical Wnt receptor signaling pathway
  • vesicle-mediated transport
  • hair follicle development
  • intraflagellar transport
  • neural tube closure
  • establishment of planar polarity
  • negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
  • negative regulation of cell migration

Cellular Component

Where in the cell the gene product is active
  • cytoskeleton
  • extracellular vesicular exosome
  • cytoplasm
  • cilium

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

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