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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
    Physical map
    OVCH1 12p11.23 ovochymase 1 LOC387618 12 hypothetical gene supported by AK125140; NM_194311 ARG99 12p11.23 ARG99 protein IPO8 12p12.1 importin 8 C1QDC1 12p11 C1q domain containing 1 LOC390299 12 similar to Peptidylprolyl isomerase A (cyclophilin A) LOC390300 12 similar to RIKEN cDNA 1110014F12 DDX11 12p11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae) DKFZp434C0631 12p11.22 hypothetical protein DKFZp434C0631 LOC387850 12 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein TERA FLJ13224 12p11.22 hypothetical protein FLJ13224 MGC24039 12p11.22 hypothetical protein MGC24039 MRPL30P2 12p11.2 hypothetical protein MGC24039 LOC341356 12p11.22 similar to ribosomal protein L31 LOC387851 12 similar to Adenylate kinase isoenzyme 4, mitochondrial (ATP-AMP transphosphorylase) MGC50559 12p11.22 hypothetical protein MGC50559 LOC196394 12p11.22 hypothetical protein LOC196394 LOC144383 12p11.22 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) LOC283342 12p11.22 similar to H3 histone, family 3B FLJ10652 12p11.22 hypothetical protein FLJ10652 BICD1 12p11.2-p11.1 Bicaudal D homolog 1 (Drosophila) FGD4 12p11.22-p11.21 FGD1 family, member 4 DNM1L q13.11-q14.3 dynamin 1-like CGI-04 12p11.21 CGI-04 protein PKP2 12p11 plakophilin 2 LOC283343 12p11.21 similar to argininosuccinate synthetase SYT10 12 synaptotagmin X LOC390301 12 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein ALG10 12p11.21 asparagine-linked glycosylation 10 homolog (yeast, alpha-1,2-glucosyltransferase) LOC144631 12p11.21 hypothetical LOC144631 LOC260338 12p11.21 HSA12cenq11 beta-tubulin 4Q (TUBB4Q) pseudogene LOC390303 12 similar to double homeobox, 4; double homeobox protein 4
    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