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Aliases for FGD4 Gene

Aliases for FGD4 Gene

  • FYVE, RhoGEF And PH Domain Containing 4 2 3
  • Zinc Finger FYVE Domain-Containing Protein 6 3 4
  • FGD1-Related F-Actin-Binding Protein 3 4
  • FGD1 Family, Member 4 2 3
  • ZFYVE6 3 4
  • CMT4H 3 6
  • FRABP 3 4
  • FYVE, RhoGEF And PH Domain-Containing Protein 4 3
  • Actin-Filament Binding Protein Frabin 3
  • Actin Filament-Binding Protein Frabin 4
  • FRABIN 6

External Ids for FGD4 Gene

Previous GeneCards Identifiers for FGD4 Gene

  • GC12P032546
  • GC12P032654

Summaries for FGD4 Gene

Entrez Gene Summary for FGD4 Gene

  • This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

GeneCards Summary for FGD4 Gene

FGD4 (FYVE, RhoGEF And PH Domain Containing 4) is a Protein Coding gene. Diseases associated with FGD4 include charcot-marie-tooth disease, type 4h and sensory peripheral neuropathy. Among its related pathways are Signaling by FGFR and Signaling by GPCR. GO annotations related to this gene include phospholipid binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is FGD1.

UniProtKB/Swiss-Prot for FGD4 Gene

  • Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity).

Gene Wiki entry for FGD4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGD4 Gene

Genomics for FGD4 Gene

Regulatory Elements for FGD4 Gene

Genomic Location for FGD4 Gene

32,399,529 bp from pter
32,646,050 bp from pter
246,522 bases
Plus strand

Genomic View for FGD4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FGD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGD4 Gene

Proteins for FGD4 Gene

  • Protein details for FGD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FYVE, RhoGEF and PH domain-containing protein 4
    Protein Accession:
    Secondary Accessions:
    • Q6ULS2
    • Q8TCP6

    Protein attributes for FGD4 Gene

    766 amino acids
    Molecular mass:
    86626 Da
    Quaternary structure:
    • Homooligomer.

    Alternative splice isoforms for FGD4 Gene


neXtProt entry for FGD4 Gene

Proteomics data for FGD4 Gene at MOPED

Post-translational modifications for FGD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FGD4 Gene

Domains for FGD4 Gene

Gene Families for FGD4 Gene

  • ARHGEF :Rho guanine nucleotide exchange factors
  • PLEKH :Pleckstrin homology (PH) domain containing
  • ZFYVE :Zinc fingers, FYVE domain containing

Graphical View of Domain Structure for InterPro Entry



  • Q96M96
  • The part of the protein spanning the actin filament-binding domain together with the DH domain and the first PH domain is necessary and sufficient for microspike formation. Activation of MAPK8 requires the presence of all domains with the exception of the actin filament-binding domain (By similarity).
  • Contains 1 DH (DBL-homology) domain.
  • Contains 2 PH domains.
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with FGD4: view

Function for FGD4 Gene

Molecular function for FGD4 Gene

UniProtKB/Swiss-Prot Function: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity).

Gene Ontology (GO) - Molecular Function for FGD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005085 guanyl-nucleotide exchange factor activity ISS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0031267 small GTPase binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FGD4: view

Phenotypes for FGD4 Gene

genes like me logo Genes that share phenotypes with FGD4: view

Animal Models for FGD4 Gene

MGI Knock Outs for FGD4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for FGD4 Gene

Localization for FGD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGD4 Gene

Cytoplasm, cytoskeleton. Cell projection, filopodium. Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By similarity). {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for FGD4 Gene COMPARTMENTS Subcellular localization image for FGD4 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
golgi apparatus 4
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FGD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005829 cytosol TAS --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with FGD4: view

Pathways for FGD4 Gene

genes like me logo Genes that share pathways with FGD4: view

Gene Ontology (GO) - Biological Process for FGD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0008360 regulation of cell shape ISS --
GO:0030032 lamellipodium assembly IEA --
GO:0030035 microspike assembly IEA --
genes like me logo Genes that share ontologies with FGD4: view

Compounds for FGD4 Gene

(1) HMDB Compounds for FGD4 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP

(2) Novoseek inferred chemical compound relationships for FGD4 Gene

Compound -log(P) Hits PubMed IDs
gdp 78.9 6
gtp 68.4 6
genes like me logo Genes that share compounds with FGD4: view

Transcripts for FGD4 Gene

Unigene Clusters for FGD4 Gene

FYVE, RhoGEF and PH domain containing 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FGD4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19
SP1: - - -
SP2: -
SP3: - -
SP4: -

Relevant External Links for FGD4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FGD4 Gene

mRNA expression in normal human tissues for FGD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FGD4 Gene

SOURCE GeneReport for Unigene cluster for FGD4 Gene Hs.117835

mRNA Expression by UniProt/SwissProt for FGD4 Gene

Tissue specificity: Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.
genes like me logo Genes that share expressions with FGD4: view

No data available for mRNA differential expression in normal tissues for FGD4 Gene

Orthologs for FGD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGD4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FGD4 35
  • 99.74 (n)
  • 99.61 (a)
FGD4 36
  • 100 (a)
(Bos Taurus)
Mammalia FGD4 35
  • 91.37 (n)
  • 90.33 (a)
FGD4 36
  • 78 (a)
(Canis familiaris)
Mammalia FGD4 35
  • 91.15 (n)
  • 90.72 (a)
FGD4 36
  • 79 (a)
(Mus musculus)
Mammalia Fgd4 35
  • 85.6 (n)
  • 84.2 (a)
Fgd4 16
Fgd4 36
  • 84 (a)
(Monodelphis domestica)
Mammalia FGD4 36
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia FGD4 36
  • 78 (a)
(Rattus norvegicus)
Mammalia Fgd4 35
  • 84.03 (n)
  • 83.16 (a)
(Gallus gallus)
Aves FGD4 36
  • 68 (a)
(Anolis carolinensis)
Reptilia FGD4 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fgd4 35
  • 69.95 (n)
  • 77.1 (a)
(Danio rerio)
Actinopterygii CABZ01078314.1 36
  • 62 (a)
fgd4a 35
  • 64.28 (n)
  • 63.56 (a)
fgd4a 36
  • 60 (a)
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF4 36
  • 18 (a)
(Caenorhabditis elegans)
Secernentea exc-5 36
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6211 36
  • 40 (a)
Species with no ortholog for FGD4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGD4 Gene

Gene Tree for FGD4 (if available)
Gene Tree for FGD4 (if available)

Paralogs for FGD4 Gene

Paralogs for FGD4 Gene

genes like me logo Genes that share paralogs with FGD4: view

Variants for FGD4 Gene

Sequence variations from dbSNP and Humsavar for FGD4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs167806 -- 32,416,960(-) gagat(C/T)gtgcc intron-variant
rs186568 -- 32,417,988(-) cagag(C/T)gagac intron-variant
rs188978 -- 32,417,693(-) gaatt(A/G)gtaag intron-variant
rs188979 -- 32,416,750(-) gaacc(A/C)atcag intron-variant
rs325417 -- 32,421,283(-) ATATG(A/G)ATGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FGD4 Gene

Variant ID Type Subtype PubMed ID
esv2751096 CNV Gain 17911159
nsv898970 CNV Loss 21882294
esv267799 CNV Insertion 20981092
nsv527786 CNV Gain 19592680

Relevant External Links for FGD4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGD4 Gene

Disorders for FGD4 Gene

(1) OMIM Diseases for FGD4 Gene (611104)


  • Charcot-Marie-Tooth disease 4H (CMT4H) [MIM:609311]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269 PubMed:17564959, ECO:0000269 PubMed:17564972}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FGD4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with FGD4: view

Publications for FGD4 Gene

  1. Identification of splicing variants of Frabin with partly different functions and tissue distribution. (PMID: 11527409) Ikeda W. … Takai Y. (Biochem. Biophys. Res. Commun. 2001) 2 3 23
  2. Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42. (PMID: 15133042) Chen X.M. … LaRusso N.F. (J. Biol. Chem. 2004) 3 4 23
  3. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. (PMID: 17564972) Stendel C. … Senderek J. (Am. J. Hum. Genet. 2007) 3 4 23
  4. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. (PMID: 19221294) Houlden H. … Reilly M.M. (Neurology 2009) 3 23
  5. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. (PMID: 19332693) Fabrizi G.M. … De Jonghe P. (Neurology 2009) 3 23

Products for FGD4 Gene

Sources for FGD4 Gene

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