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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FGD4 Gene

protein-coding   GIFtS: 61
GCID: GC12P032546

FYVE, RhoGEF and PH domain containing 4

(Previous names: FGD1 family, member 4 )
 Explore 11 diseases affiliated with
FGD4 via our new
 Human Malady Compendium 
Biological research products
for FGD4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
FYVE, RhoGEF And PH Domain Containing 41 2     FGD1-Related F-Actin-Binding Protein2 3
FRABP1 2 3     Frabin1
ZFYVE61 2 3     Actin-Filament Binding Protein Frabin2
CMT4H1 2 5     FYVE, RhoGEF And PH Domain-Containing Protein 42
FGD1 Family, Member 41 2     Actin Filament-Binding Protein Frabin3
Zinc Finger FYVE Domain-Containing Protein 62 3     FRABIN5

External Ids:    HGNC: 191251   Entrez Gene: 1215122   Ensembl: ENSG000001391327   OMIM: 6111045   UniProtKB: Q96M963   

Export aliases for FGD4 gene to outside databases

Previous GC identifers: GC12P032654 GC12P032407


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FGD4:
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. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: FGD4_HUMAN, Q96M96
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 Wiki entry for FGD4


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009714.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGD4 gene promoter:
         Sox5   AML1a   FOXF2   p300   Tal-1beta   E47   AREB6   MEF-2A   Sox9   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFGD4 promoter sequence
   Search SABiosciences Chromatin IP Primers for FGD4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGD4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p11.21   Ensembl cytogenetic band:  12p11.21   HGNC cytogenetic band: 12p11.1

FGD4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGD4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P032546:  view genomic region     (about GC identifiers)

Start:
32,552,463 bp from pter      End:
32,798,984 bp from pter
Size:
246,522 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FGD4_HUMAN, Q96M96 (See protein sequence)
Recommended Name: FYVE, RhoGEF and PH domain-containing protein 4  
Size: 766 amino acids; 86626 Da
Subunit: Homooligomer (By similarity)
Subcellular location: Cytoplasm, cytoskeleton (By similarity). Cell projection, filopodium (By similarity).
Note=Concentrated in filopodia and poorly detected at lamellipodia. Binds along the sides of actin fibers (By
similarity)
Secondary accessions: Q6ULS2 Q8TCP6
Alternative splicing: 3 isoforms:  Q96M96-1   Q96M96-2   Q96M96-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FGD4: NX_Q96M96

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96M96

  • FGD4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_640334.2  
    ENSEMBL proteins: 
     ENSP00000449273   ENSP00000431323   ENSP00000434356   ENSP00000437109   ENSP00000449614  
     ENSP00000394487   ENSP00000379089   ENSP00000446695   ENSP00000462623   ENSP00000433666  
     ENSP00000434062   ENSP00000266482   ENSP00000370413  
    Reactome Protein details: Q96M96
    Human Recombinant Protein Products: 
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    Uscn Proteins for FGD4

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle ISS--
    GO:0005622intracellular ----
    GO:0005737cytoplasm ISS--
    GO:0005794Golgi apparatus ISS--
    GO:0005829cytosol TAS--


    FGD4 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FGD4 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR000306 Znf_FYVE
     IPR011993 PH_like_dom
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q96M96

    ProtoNet protein and cluster: Q96M96

    3 Blocks protein families:
    IPB000219 DH domain
    IPB000306 Zn-finger
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: FGD4_HUMAN, Q96M96
    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)
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 2 PH domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FGD4_HUMAN, Q96M96
    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)

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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005085guanyl-nucleotide exchange factor activity ISS--
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005543phospholipid binding IEA--
    GO:0031267small GTPase binding ISS--


    FGD4 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for FGD4:
     Decreased viability with pacli  Increased G1 DNA content 

    Animal Models:
         Mouse knock-out Fgd4tm1.1Ics for FGD4
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fgd4):
     behavior/neurological  nervous system 

    FGD4 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell death signalling via NRAGE, NRIF and NADE
    Cell death signalling via NRAGE, NRIF and NADE1.00
    G alpha (12/13) signalling events0.39
    NRAGE signals death through JNK0.74
    Rho GTPase cycle0.25
    p75 NTR receptor-mediated signalling0.73
    Signaling by Rho GTPases0.25
    2Signaling by GPCR
    Signaling by GPCR1.00
    Signal Transduction0.56
    GPCR downstream signaling0.89
    3G-protein signaling Regulation of RAC1 activity
    G-protein signaling Regulation of CDC42 activity0.25
    G-protein signaling_Regulation of CDC42 activity0.25
    4Signaling by FGFR
    Signalling by NGF0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for FGD4
        G-protein signaling Regulation of CDC42 activity


    1 GeneGo (Thomson Reuters) Pathway for FGD4
        G-protein signaling Regulation of CDC42 activity

    5/10        Reactome Pathways for FGD4 (see all 10)
        GPCR downstream signaling
    Signaling by Rho GTPases
    G alpha (12/13) signalling events
    Cell death signalling via NRAGE, NRIF and NADE
    Signaling by GPCR



    FGD4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGD4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for FGD4 (Q96M963 ENSP000003944874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    GRIN1Q055863I2D: score=1 
    GRIN2BQ132243I2D: score=1 
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0007010cytoskeleton organization ISS--
    GO:0007257activation of JUN kinase activity ----
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0008360regulation of cell shape ISS--


    FGD4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FGD4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FGD4

    1 HMDB Compound for FGD4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    2 Novoseek chemical compound relationships for FGD4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 78.9 6 11429692 (1), 14750956 (1), 10871857 (1), 10947844 (1) (see all 6)
    gtp 68.4 6 11429692 (1), 14750956 (1), 10871857 (1), 10947844 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about FGD4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FGD4 gene: 
    NM_139241.2  

    Unigene Cluster for FGD4:

    FYVE, RhoGEF and PH domain containing 4
    Hs.117835  [show with all ESTs]
    Unigene Representative Sequence: NM_139241
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534526 ENST00000550091 ENST00000531134 ENST00000472289(uc001rkx.4)
    ENST00000494275 ENST00000497153 ENST00000493087 ENST00000551984 ENST00000427716(uc001rlc.3 uc001rkz.3 uc001rla.3 uc010ske.2 uc001rlb.1)
    ENST00000473513 ENST00000395740(uc001rky.3) ENST00000479023 ENST00000546442
    ENST00000583694 ENST00000525053 ENST00000494977 ENST00000266482 ENST00000381025


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    hsa-miR-520f hsa-miR-520e hsa-miR-106a hsa-miR-138-2* hsa-miR-93 hsa-miR-376c hsa-miR-200b hsa-miR-3622a-5p
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    Additional cDNA sequence: 

    AK057294.1 AK091689.1 AK124654.1 AK297025.1 AK303334.1 AL832064.1 BC039708.1 BC045552.1 
    BC063403.1 BC096746.1 

    11 DOTS entries:

    DT.211504  DT.101980107  DT.101969988  DT.86858699  DT.101980108  DT.99982574  DT.100754483  DT.121211720 
    DT.121211654  DT.434753  DT.92417795 

    24/110 AceView cDNA sequences (see all 110):

    AW005825 AI251842 BC039708 BC063403 BF510975 AA412504 AI824076 AI933640 
    CB124491 BU742508 AL832064 CB162006 AA921849 BI752085 BM698877 AA412618 
    BI756188 AI263488 BM314620 BM728469 CF144903 AI473214 AA952969 AI887540 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for FGD4    About this scheme

    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:                                -                                                                                                               


    ECgene alternative splicing isoforms for FGD4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FGD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGATATGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FGD4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGD4

    SOURCE GeneReport for Unigene cluster: Hs.117835

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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FGD4 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FGD41 FYVE, RhoGEF and PH domain containing 4 76.37(n)
    76.72(a)
      418133  XM_416365.3  XP_416365.3 
    lizard
    (Anolis carolinensis)
    Reptilia FGD46
    --
    61(a)
    1 ↔ 1
    5(10244988-10286815)
    zebrafish
    (Danio rerio)
    Actinopterygii fgd4a1 FYVE, RhoGEF and PH domain containing 4a 64.27(n)
    63.65(a)
      556216  NM_001177933.1  NP_001171404.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    29(a)
    1 → many
    Group2.1(18879-21756)
    worm
    (Caenorhabditis elegans)
    Secernentea exc-56
    EXCretory canal abnormal family member (exc-5)
    18(a)
    1 → many
    IV(8799076-8804844)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGD4 gene
    FGD32  PLEKHF22  FGD52  PLEKHF12  FGD22  FGD62  FGD12  
    6 SIMAP similar genes for FGD4 using alignment to 13 protein entries:     FGD4_HUMAN (see all proteins):
    FGD2    FGD1    FLJ00004    FGD3    FGD5    FGD6

    FGD4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2723 NCBI SNPs in FGD4 are shown (see all 2723    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs637498711,2
    Cpathogenic36777918(+) TAAGAC/G/TGTATG 3 T R M mis10--------
    rs1182039741,2
    Cpathogenic36778725(+) AGAAAC/TGAATG 2 R * stg10--------
    rs802465491,2
    C,F,--32405576(+) GCAAAG/AAGCAT 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs600696651,2
    --32405964(+) CAGGCG/ACCCGC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs589824041,2
    C,--32406460(+) CTAGAG/CAGCTC 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs79753111,2
    C,F,A,H,--32406813(+) GTGGGC/TAACTG 1 -- us2k115Minor allele frequency- T:0.01NS EA NA WA 1636
    rs606725691,2
    F,--32406836(+) CAGTAT/CTTAAC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs793705241,2
    F,--32407485(+) CCAATC/AGCCTT 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs110520331,2
    C,F,H,--32407536(+) CCCACC/TGGAAT 1 -- ut5111Minor allele frequency- T:0.04NS EA NA 1470
    rs561681931,2
    C--32407680(+) CAACCG/ATTTGT 1 -- ut511Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for FGD4 (32552463 - 32798984 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FGD4
         1 CNV: 8721
    Human Gene Mutation Database (HGMD): FGD4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGD4
    DNA2.0 Custom Variant and Variant Library Synthesis for FGD4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FGD4 for disorders           About GeneDecksing

    OMIM gene information: 611104   
    OMIM disorders: 609311  
    UniProtKB/Swiss-Prot: FGD4_HUMAN, Q96M96
  • Defects in FGD4 are the cause of Charcot-Marie-Tooth disease type 4H (CMT4H) [MIM:609311]; also known as
  • Charcot-Marie-Tooth disease neuropathy type 4H. CMT4H is a recessive demyelinating form of Charcot-Marie-Tooth
    disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral
    demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT 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

    11 diseases for FGD4:    About MalaCards
    charcot-marie-tooth disease type 4    charcot-marie-tooth disease    charcot-marie-tooth neuropathy    charcot-marie-tooth neuropathy type 4
    tooth disease    aarskog-scott syndrome    motor peripheral neuropathy    scott syndrome
    peripheral neuropathy    axonal neuropathy    neuropathy

    GeneTests: FGD4
    Charcot-Marie-Tooth Neuropathy Type 4

    Human Genome Epidemiology (HuGE) Navigator: FGD4 (1 document)

    Export disorders for FGD4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FGD4 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with FGD4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42. (PubMed id 15133042)1, 2, 9 Chen X.M....LaRusso N.F. (2004)
    2. Identification of splicing variants of Frabin with partly different functions and tissue distribution. (PubMed id 11527409)1, 3, 9 Ikeda W....Takai Y. (2001)
    3. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. (PubMed id 17564972)1, 2, 9 Stendel C....Senderek J. (2007)
    4. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. (PubMed id 17564959)1, 2 Delague V.... Levy N. (2007)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Cooperation of Cdc42 small G protein-activating and actin filament-binding activities of frabin in microspike formation. (PubMed id 11429692)1, 9 Ikeda W....Takai Y. (2001)
    7. Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. (PubMed id 19332693)1, 9 Fabrizi G.M....De Jonghe P. (2009)
    8. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. (PubMed id 19221294)1, 9 Houlden H....Reilly M.M. (2009)
    9. Differential protein expression by dendritic cells fr om atopic and non-atopic individuals after stimulation by the major house dust mite allergen Der p 1. (PubMed id 19494521)1, 9 Horlock C....Ghaemmaghami A.M. (2009)
    10. Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking. (PubMed id 22295116)1 Pei Y.F....Deng H.W. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 121512 HGNC: 19125 AceView: FGD4 Ensembl:ENSG00000139132 euGenes: HUgn121512
    ECgene: FGD4 H-InvDB: FGD4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FGD4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGD4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FGD4 gene:
    Search GeneIP for patents involving FGD4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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