Fig4 Gene Summary [Mouse]
Predicted to enable phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity; phosphatidylinositol-3-phosphate phosphatase activity; and phosphatidylinositol-4-phosphate phosphatase activity. Acts upstream of or within several processes, including negative regulation of myelination; nervous system development; and phosphatidylinositol metabolic process. Predicted to be located in endosome membrane; lipid droplet; and recycling endosome. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in nervous system; nucleus pulposus; thymus primordium; and vibrissa. Used to study Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome; amyotrophic lateral sclerosis type 11; and bilateral parasagittal parieto-occipital polymicrogyria. Orthologous to human FIG4 (FIG4 phosphoinositide 5-phosphatase). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Fig4 |
| Official Name | FIG4 phosphoinositide 5-phosphatase [Source:MGI Symbol;Acc:MGI:2143585] |
| Ensembl ID | ENSMUSG00000038417 |
| Bio databases IDs | |
| Aliases | FIG4 phosphoinositide 5-phosphatase |
| Synonyms | A530089I17Rik, ALS11, BOP, BTOP, CMT4J, dJ249I4.1, FIG4 phosphoinositide 5-phosphatase, KIAA0274, RGD1311375, SAC3, YVS |
| 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 Fig4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphatidylinositol-3-phosphatase
- phosphatase
- enzyme
- protein binding
- SacI homology domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulated by
- VAC14
- insulin
- cycloheximide
- 26S proteasome
disease
- COVID-19
- obesity
- Charcot-Marie-Tooth disease type 4j
- Charcot-Marie-Tooth disease type 4
- hereditary disorder
- chronic lymphocytic leukemia
- Yunis-Varon Syndrome
- amyotrophic lateral sclerosis type 11
- bilateral occipital polymicrogyria
- Charcot-Marie-Tooth disease
phenotypes
- abnormal action potential
- abnormal bone marrow cell morphology/development
- abnormal bone ossification
- abnormal bone structure
- abnormal brain morphology
- abnormal compact bone morphology
- abnormal craniofacial morphology
- abnormal gait
- abnormal hair follicle morphology
- abnormal heart atrium morphology
- abnormal limb posture
- abnormal melanosome morphology
- abnormal motor capabilities/coordination/movement
- abnormal motor neuron morphology
- abnormal myelin sheath morphology
- abnormal nerve conduction
- abnormal nervous system morphology
- abnormal osteoblast morphology
- abnormal sciatic nerve morphology
- abnormal skeleton morphology
- abnormal trabecular bone morphology
- astrocytosis
- decreased body size
- decreased body weight
- decreased bone trabecula number
- decreased bone volume
- decreased compact bone thickness
- decreased hair follicle number
- decreased length of long bones
- decreased nerve conduction velocity
- decreased trabecular bone connectivity density
- decreased trabecular bone volume
- demyelination
- diluted coat color
- hypopigmentation
- impaired coordination
- long incisors
- muscle weakness
- neurodegeneration
- neuron degeneration
- postnatal growth retardation
- premature death
- small clavicle
- spleen hypoplasia
- spongiform encephalopathy
- tremors
role in cell
- binding in
- loss
- development
- assembly
- swelling
- organization
- aggregation in
- mislocalization in
- enlargement
- enlargement 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.
- Cytoplasm
- membrane fraction
- intracellular membrane-bounded organelle
- perinuclear region
- intracellular membranes
- Plasma Membrane
- lipid droplets
- cytosol
- Golgi membrane
- endosomal membrane
- recycling endosomes
- early endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Fig4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- locomotory behavior
- vacuole organization
- pigmentation
- phosphatidylinositol-3-phosphate biosynthetic process
- myelin assembly
- phosphatidylinositol biosynthetic process
- neuron development
- negative regulation of myelination
- phosphatidylinositol dephosphorylation
Cellular Component
Where in the cell the gene product is active
- lipid particle
- early endosome membrane
- late endosome membrane
- intracellular membrane-bounded organelle
- endosome membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein serine/threonine phosphatase activity
- phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity
- protein binding
- phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
- phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity