Fgd4 Gene Summary [Mouse]

This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

Details

Type
Protein Coding
Official Symbol
Fgd4
Official Name
FYVE, RhoGEF and PH domain containing 4 [Source:MGI Symbol;Acc:MGI:2183747]
Ensembl ID
ENSMUSG00000022788
Bio databases IDs NCBI: 224014 Ensembl: ENSMUSG00000022788
Aliases FYVE, RhoGEF and PH domain containing 4
Synonyms 9030023J02RIK, 9330209B17Rik, CMT4H, FRABIN, FRABP, FYVE, RhoGEF and PH domain containing 4, LOC108352368, ZFYVE6
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 Fgd4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FYVE zinc finger
  • enzyme binding
  • Pleckstrin homology-like domain
  • RhoGEF domain
  • FYVE domain like superfamily
  • actin filament binding
  • RhoGEF
  • actin-binding domain
  • Fab domain
  • Protein present in Fab1, YOTB, Vac1, and EEA1
  • actin binding
  • guanyl-nucleotide exchange factor
  • PH domain
  • PHD finger superfamily
  • Dbl homology domain
  • cysteine rich domain

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
  • hypertension
  • Charcot-Marie-Tooth disease type 4
  • hereditary disorder
  • Charcot-Marie-Tooth disease type 4h
  • carcinoma in situ
  • epithelial cancer in situ
  • demyelination
  • suicide attempt
  • cerebral atherosclerosis
regulated by
regulates
role in cell
  • activation in
  • formation
  • action potential
  • migration
  • abnormal morphology
  • number
  • invasion
  • shape change
  • motility
  • endocytosis

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
  • ruffle
  • Golgi Apparatus
  • cytosol
  • membrane ruffles
  • filopodia
  • lamellipodia
  • detergent-soluble fraction
  • cytoskeletal fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Fgd4 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of cell shape
  • cytoskeleton organization
  • regulation of small GTPase mediated signal transduction
  • regulation of GTPase activity
  • filopodium assembly
  • actin cytoskeleton organization

Cellular Component

Where in the cell the gene product is active
  • cytoskeleton
  • cytoplasm
  • ruffle
  • cytosol
  • filopodium
  • Golgi apparatus
  • lamellipodium

Molecular Function

What the gene product does at the molecular level
  • actin binding
  • metal ion binding
  • guanyl-nucleotide exchange factor activity
  • small GTPase binding

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.