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 | |
| 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 |
| Orthologies |
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
phenotypes
- abnormal craniofacial morphology
- abnormal forebrain development
- abnormal head shape
- abnormal heart looping
- abnormal heart morphology
- abnormal hindbrain development
- abnormal limb morphology
- abnormal midbrain development
- abnormal neural tube closure
- abnormal neural tube morphology
- abnormal optic vesicle formation
- abnormal pharyngeal arch morphology
- abnormal tail morphology
- increased circulating serum albumin level
- preweaning lethality complete penetrance
- Meckel's cartilage hyperplasia
- abnormal Meckel's cartilage morphology
- abnormal apical ectodermal ridge morphology
- abnormal brain development
- abnormal cardiac outflow tract development
- abnormal cell morphology
- abnormal cochlea morphology
- abnormal developmental patterning
- abnormal diencephalon morphology
- abnormal eye morphology
- abnormal head mesenchyme morphology
- abnormal liver morphology
- abnormal long bone morphology
- abnormal mandible morphology
- abnormal midbrain morphology
- abnormal motor neuron morphology
- abnormal palatal shelf elevation
- abnormal palate development
- abnormal pituitary diverticulum morphology
- abnormal rib morphology
- abnormal spinal cord interneuron morphology
- abnormal spinal cord morphology
- abnormal sternum morphology
- abnormal striatum morphology
- abnormal tongue morphology
- abnormal tooth development
- abnormal truncus arteriosus septation
- absent choroid plexus
- absent eye pigmentation
- absent incisors
- anophthalmia
- atrioventricular septal defect
- cleft secondary palate
- delayed bone ossification
- delayed intramembranous bone ossification
- diaphragmatic hernia
- dilated brain ventricles
- dual inferior vena cava
- edema
- encephalomeningocele
- exencephaly
- lethality throughout fetal growth and development complete penetrance
- mandible hypoplasia
- maxilla hypoplasia
- microphthalmia
- multiple major aortopulmonary collateral arteries
- neonatal lethality complete penetrance
- pericardial edema
- persistent truncus arteriosis
- polydactyly
- pulmonary hypoplasia
- pulmonary valve atresia
- right aortic arch
- small floor plate
- tracheoesophageal fistula
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