Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol FGD4 contributors: mct - updated : 22-04-2011
HGNC name FYVE, RhoGEF and PH domain containing 4
HGNC id 19125
Corresponding disease
CMT4H Charcot-Marie-Tooth disease, type H
Location 12p11.21      Physical location : 32.655.040 - 32.798.982
Synonym name
  • actin-filament binding protein Frabin
  • FGD1 family member 4
  • FGD1-related F-actin binding protein
  • Synonym symbol(s) FRABIN, FRABP, MGC57222, ZFYZE6
    DNA
    TYPE functioning gene
    STRUCTURE 143.94 kb     17 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 8312 - 766 - 2001 11527409
  • FRABIN alpha
  • in L fibroblasts, all the three variants formed filopodia
  • in MDCK epithelial cells, frabin-alpha formed microspikes but frabin-beta or -gamma did not
  • - - - - - - 2001 11527409
  • lacked the second pleckstrin homology domain
  • in L fibroblasts, all the three variants formed filopodia
  • - - - - - - 2001 11527409
  • lacked the FYVE-finger domain and the second pleckstrin homology domain
  • in L fibroblasts, all the three variants formed filopodia
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousnervecranial nerve  highly
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one F-actin binding (FAB) domain
  • a Dbl homology (DH) domain in tandem with a pleckstrin homology (PH) domain
  • multiple phosphoinositide-binding domains, including two pleckstrin homology (PH) domains
  • a FYVE or FERM domain (
  • HOMOLOGY
    interspecies ortholog to murine P52734
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    text membranes ruffles and lamellipodia
    basic FUNCTION
  • forming filopodia through direct activation of Cdc42 and lamellipodia through indirect activation of Rac small G protein
  • modulate the actin cytoskeleton, being Cdc42-specific exchange factors (Huber 2008)
  • GEF specific for Cdc42, a Rho GTPase involved in the reorganization of not only actin microfilaments but also the microtubule cytoskeleton
  • GDP/GTP exchange protein for CDC42 with actin filament (F-actin)-binding activity
  • might have a role in early stages of myelination
  • associates with a specific membrane structure(s) and induces the indirect activation of Rac in the vicinity of this structure(s), resulting in the reorganization of the actin cytoskeleton (
  • directly and indirectly can reorganizes the actin cytoskeleton through its F-actin-binding and Cdc42-activating activities, respectively, in a cooperative manner, eventually leading to microspike formation (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT4H
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS