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 i... See more...

Aliases for FGD4 Gene

Aliases for FGD4 Gene

  • FYVE, RhoGEF And PH Domain Containing 4 2 3 5
  • ZFYVE6 2 3 4
  • FRABP 2 3 4
  • FYVE, RhoGEF And PH Domain-Containing Protein 4 3 4
  • Zinc Finger FYVE Domain-Containing Protein 6 3 4
  • FGD1-Related F-Actin-Binding Protein 3 4
  • FGD1 Family, Member 4 2 3
  • CMT4H 2 3
  • Actin-Filament Binding Protein Frabin 3
  • Actin Filament-Binding Protein Frabin 4
  • Frabin 2
  • FGD4 5

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 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are p75 NTR receptor-mediated signalling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include actin binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is FGD1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FGD4 Gene

Genomics for FGD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FGD4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J032398 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261.5 +0.8 819 4.1 IKZF1 ZNF600 ZNF580 ZNF223 ZNF10 ZSCAN16 POLR2A ZIC2 ZBTB10 MXD4 FGD4 HSALNG0090271 NONHSAG010848.2 HSALNG0090272 DNM1L
GH12J032500 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.2 +104.1 104061 5.7 ZNF600 CEBPA POLR2A ZIC2 YY1 ZNF341 SIN3A FOXA2 MAFF SMAD4 HSALNG0090275 FGD4 DNM1L ENSG00000257511 HSALNG0090274 HSALNG0090276
GH12J032532 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.1 +135.1 135122 4.5 ZNF600 SSRP1 KLF9 CEBPA ZIC2 YY1 CEBPB FOXA1 ZNF341 HOMEZ FGD4 RNU6-494P DNM1L ENSG00000257511 piR-39099-066 piR-56759-113
GH12J032390 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 256.9 -8.6 -8630 0.9 GABPB1 BCL6 ZBTB33 NFYC ELF3 NFATC3 CTCF MAFK TFDP1 RNF2 FGD4 ENSG00000207176 HSALNG0090271 lnc-BICD1-1 BICD1
GH12J032397 Enhancer 0.5 ENCODE 256.7 -1.7 -1651 0.1 FEZF1 YY1 PRDM4 ZNF561 EP300 ZNF335 FGD4 ENSG00000207176 HSALNG0090271 BICD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FGD4

Top Transcription factor binding sites by QIAGEN in the FGD4 gene promoter:
  • aMEF-2
  • AML1a
  • AREB6
  • E47
  • FOXF2
  • MEF-2A
  • p300
  • Sox5
  • Sox9
  • Tal-1beta

Genomic Locations for FGD4 Gene

Latest Assembly
chr12:32,399,523-32,646,050
(GRCh38/hg38)
Size:
246,528 bases
Orientation:
Plus strand

Previous Assembly
chr12:32,552,492-32,798,984
(GRCh37/hg19 by Entrez Gene)
Size:
246,493 bases
Orientation:
Plus strand

chr12:32,552,463-32,798,984
(GRCh37/hg19 by Ensembl)
Size:
246,522 bases
Orientation:
Plus strand

Genomic View for FGD4 Gene

Genes around FGD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q96M96-FGD4_HUMAN
    Recommended name:
    FYVE, RhoGEF and PH domain-containing protein 4
    Protein Accession:
    Q96M96
    Secondary Accessions:
    • Q6ULS2
    • Q8TCP6

    Protein attributes for FGD4 Gene

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

    Alternative splice isoforms for FGD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGD4 Gene

Post-translational modifications for FGD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for FGD4
  • Boster Bio Antibodies for FGD4
  • Santa Cruz Biotechnology (SCBT) Antibodies for FGD4

No data available for DME Specific Peptides for FGD4 Gene

Domains & Families for FGD4 Gene

Gene Families for FGD4 Gene

Protein Domains for FGD4 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • DH domain
  • Zn-finger, FYVE type

Suggested Antigen Peptide Sequences for FGD4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55905, highly similar to FYVE, RhoGEF and PH domain-containing protein 4 (B7Z493_HUMAN)
  • Zinc finger FYVE domain-containing protein 6 (FGD4_HUMAN)
  • FGD4 protein (Q49A55_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96M96

UniProtKB/Swiss-Prot:

FGD4_HUMAN :
  • 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).
Domain:
  • 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).
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).

Phenotypes From GWAS Catalog for FGD4 Gene

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 IEA,ISS --
GO:0031267 small GTPase binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FGD4: view
genes like me logo Genes that share phenotypes with FGD4: view

Human Phenotype Ontology for FGD4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGD4 Gene

MGI Knock Outs for FGD4:
  • Fgd4 Fgd4<tm1.1Ics>
  • Fgd4 Fgd4<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGD4 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
golgi apparatus 4
plasma membrane 2
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FGD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm IEA,ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FGD4: view

Pathways & Interactions for FGD4 Gene

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

Pathways by source for FGD4 Gene

1 GeneGo (Thomson Reuters) pathway for FGD4 Gene
  • G-protein signaling_Regulation of CDC42 activity

SIGNOR curated interactions for FGD4 Gene

Activates:

Gene Ontology (GO) - Biological Process for FGD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0008360 regulation of cell shape ISS --
GO:0030036 actin cytoskeleton organization ISS --
GO:0043065 positive regulation of apoptotic process TAS --
genes like me logo Genes that share ontologies with FGD4: view

Drugs & Compounds for FGD4 Gene

(2) Drugs for FGD4 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3989
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for FGD4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FGD4: view

Transcripts for FGD4 Gene

mRNA/cDNA for FGD4 Gene

16 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGD4

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
FGD4

Expression for FGD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FGD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FGD4 Gene

This gene is overexpressed in Stomach (15.0), Peripheral blood mononuclear cells (10.3), and Placenta (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FGD4 Gene



Protein tissue co-expression partners for FGD4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FGD4

SOURCE GeneReport for Unigene cluster for FGD4 Gene:

Hs.117835

mRNA Expression by UniProt/SwissProt for FGD4 Gene:

Q96M96-FGD4_HUMAN
Tissue specificity: Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis.

Evidence on tissue expression from TISSUES for FGD4 Gene

  • Liver(4.3)
  • Nervous system(3.3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGD4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FGD4: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia FGD4 29 30
  • 99.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FGD4 29 30
  • 91.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FGD4 29 30
  • 91.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fgd4 29 16 30
  • 85.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fgd4 29
  • 84.03 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia FGD4 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FGD4 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FGD4 30
  • 68 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FGD4 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fgd4 29
  • 69.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii fgd4a 29 30
  • 64.28 (n)
OneToMany
CABZ01078314.1 30
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta RhoGEF4 30
  • 18 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea exc-5 30
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6211 30
  • 40 (a)
OneToMany
Species where no ortholog for FGD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

ENSEMBL:
Gene Tree for FGD4 (if available)
TreeFam:
Gene Tree for FGD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FGD4: view image
Alliance of Genome Resources:
Additional Orthologs for FGD4

Paralogs for FGD4 Gene

Paralogs for FGD4 Gene

(6) SIMAP similar genes for FGD4 Gene using alignment to 13 proteins:

  • FGD4_HUMAN
  • B7Z493_HUMAN
  • E9PJX4_HUMAN
  • E9PNX0_HUMAN
  • E9PQT1_HUMAN
  • F8VVF1_HUMAN
  • F8VWL3_HUMAN
  • F8W1R0_HUMAN
  • G3XA97_HUMAN
  • H0YDQ0_HUMAN
  • J3KSS3_HUMAN
  • L8EAP1_HUMAN
  • Q49A55_HUMAN
genes like me logo Genes that share paralogs with FGD4: view

Variants for FGD4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FGD4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1001915 Uncertain Significance: Charcot-Marie-Tooth disease type 4 32,625,771(+) T/C
NM_001370298.3(FGD4):c.2164T>C (p.Cys722Arg)
MISSENSE
1003600 Uncertain Significance: Charcot-Marie-Tooth disease type 4 32,624,435(+) A/G
NM_001370298.3(FGD4):c.1936A>G (p.Lys646Glu)
MISSENSE
1012006 Uncertain Significance: Charcot-Marie-Tooth disease type 4 32,582,172(+) G/A
NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
1014721 Uncertain Significance: Charcot-Marie-Tooth disease type 4 32,602,303(+) G/A
NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1015705 Uncertain Significance: Charcot-Marie-Tooth disease type 4 32,598,552(+) G/C
NM_001370298.3(FGD4):c.1067G>C (p.Arg356Thr)
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FGD4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2751096 CNV gain 17911159
esv3382704 CNV insertion 20981092
esv3581449 CNV gain 25503493
esv3629083 CNV loss 21293372
esv3629084 CNV loss 21293372
esv3629085 CNV gain 21293372
nsv1122716 CNV deletion 24896259
nsv473072 CNV novel sequence insertion 20440878
nsv527786 CNV gain 19592680
nsv951347 CNV duplication 24416366

Variation tolerance for FGD4 Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.31; 95.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGD4 Gene

Human Gene Mutation Database (HGMD)
FGD4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGD4
Leiden Open Variation Database (LOVD)
FGD4

SNP Genotyping and Copy Number Assays for research

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

Disorders for FGD4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for FGD4 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FGD4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FGD4_HUMAN
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for FGD4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FGD4: view

No data available for Genatlas for FGD4 Gene

Publications for FGD4 Gene

  1. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. (PMID: 17564972) Stendel C … Senderek J (American journal of human genetics 2007) 3 4 22
  2. Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42. (PMID: 15133042) Chen XM … LaRusso NF (The Journal of biological chemistry 2004) 3 4 22
  3. Identification of splicing variants of Frabin with partly different functions and tissue distribution. (PMID: 11527409) Ikeda W … Takai Y (Biochemical and biophysical research communications 2001) 2 3 22
  4. Charcot-Marie-Tooth Neuropathy Type 4H – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY (PMID: 23926620) Delague V (GeneReviews® 2013) 3 72
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for FGD4 Gene

Sources for FGD4 Gene