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FGD4 Gene

protein-coding   GIFtS: 62
GCID: GC12P032546

FYVE, RhoGEF And PH Domain Containing 4

(Previous names: FGD1 family, member 4)
  See FGD4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
FYVE, RhoGEF And PH Domain Containing 41 2     CMT4H2 5
FGD1 Family, Member 41 2     Actin-Filament Binding Protein Frabin2
Zinc Finger FYVE Domain-Containing Protein 62 3     FYVE, RhoGEF And PH Domain-Containing Protein 42
FRABP2 3     Actin Filament-Binding Protein Frabin3
ZFYVE62 3     FRABIN5
FGD1-Related F-Actin-Binding Protein2 3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by
RefSeq, Oct 2008)

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 neuropathy type 4h, and sensory peripheral neuropathy. GO annotations related to this gene include phospholipid binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHF2.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for FGD4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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

Explore proteomics data for FGD4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FGD4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_640334.2  
    ENSEMBL proteins: 
     ENSP00000449273   ENSP00000431323   ENSP00000434356   ENSP00000437109   ENSP00000449614  
     ENSP00000394487   ENSP00000379089   ENSP00000446695   ENSP00000462623   ENSP00000433666  
     ENSP00000434062   ENSP00000266482   ENSP00000370413  
    Reactome Protein details: Q96M96

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZFYVE: Zinc fingers, FYVE domain containing
    PLEKH: Pleckstrin homology (PH) domain containing
    ARHGEF: Rho guanine nucleotide exchange factors

    Selected InterPro protein domains (see all 6):
     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 domains:
    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


    Find genes that share domains with FGD4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 5 molecular function terms:    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:0031267small GTPase binding ISS--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with FGD4           About GenesLikeMe


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

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fgd4):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with FGD4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fgd4tm1.1Ics for FGD4

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FGD4_HUMAN, Q96M96: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    golgi apparatus4
    nucleus2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle ISS--
    GO:0005737cytoplasm ISS--
    GO:0005794Golgi apparatus ISS--
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton IDA--

    Find genes that share ontologies with FGD4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FGD4 About    
    See pathways by source

    SuperPathContained pathways About
    1p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    4Signaling by FGFR
    Signalling by NGF0.71
    5G protein signaling Regulation of CDC42 activity
    G protein signaling Regulation of CDC42 activity


    Find genes that share SuperPaths with FGD4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    3 Reactome Pathways for FGD4
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FGD4
    Interactions:

        GeneGlobe Interaction Network for FGD4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for FGD4 (Q96M963 ENSP000003944874) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    GRIN1Q055863I2D: score=1 
    GRIN2BQ132243I2D: score=1 
    HCLS1ENSP000003201764STRING: ENSP00000320176
    TGFB1I1ENSP000003783324STRING: ENSP00000378332
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization ISS--
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0008360regulation of cell shape ISS--
    GO:0030032lamellipodium assembly IEA--
    GO:0030035microspike assembly IEA--

    Find genes that share ontologies with FGD4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    Find genes that share compounds with FGD4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 110):

    AA952969 BU742508 BM314620 AA412618 AI887540 CB162006 AA921849 BI756188 
    AL832064 BM728469 AI263488 BM698877 CF144903 AI933640 BF510975 BM788332 
    AA516262 BC039708 AW005825 AI251842 BC063403 AI473214 AI824076 CB124491 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FGD4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGATATGTG
    FGD4 Expression
    About this image


    FGD4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    FGD4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FGD4 Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for FGD4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fgd41 , 5 FYVE, RhoGEF and PH domain containing 41, 5 85.6(n)1
    84.2(a)1
      16 (10.18 cM)5
    2240141  NM_139232.21  NP_631978.11 
     164169175 
    chicken
    (Gallus gallus)
    Aves FGD46
    FYVE, RhoGEF and PH domain containing 4
    68(a)
    1 ↔ 1
    1(59115780-59189015)
    lizard
    (Anolis carolinensis)
    Reptilia FGD46
    FYVE, RhoGEF and PH domain containing 4
    66(a)
    1 ↔ 1
    5(10244979-10296590)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia fgd41 FYVE, RhoGEF and PH domain containing 4 69.95(n)
    77.1(a)
      100038050  XM_002942291.2  XP_002942337.2 
    zebrafish
    (Danio rerio)
    Actinopterygii fgd4a1 FYVE, RhoGEF and PH domain containing 4a 64.28(n)
    63.56(a)
      556216  NM_001177933.1  NP_001171404.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RhoGEF46
    RhoGEF4
    18(a)
    many ↔ many
    3L(7314199-7316511)
    worm
    (Caenorhabditis elegans)
    Secernentea exc-56
    Protein EXC-5, isoform b (exc-5) mRNA, complete cd...
    22(a)
    1 → many
    IV(8799089-8804857) WBGene00001366


    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)
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    Paralogs for FGD4 gene
    PLEKHF22  FGD32  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

    Find genes that share paralogs with FGD4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FGD4 (see all 3208)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0443214
    Charcot-Marie-Tooth disease 4H (CMT4H)4--see VAR_0443212 M T mis40--------
    rs1182039741,2
    Cpathogenic132621849(+) AGAAAC/TGAATG 2 R * stg10--------
    rs637498711,2
    Cpathogenic132622656(+) TAAGAC/G/TGTATG 3 T R M mis10--------
    rs358547091,2
    C--32409343(+) GAGCA-/A/TTTGGG 1 -- int11NA 2
    rs745819011,2
    C--32429911(+) AAAAA-/AC/CA 
            
    AACAG
    1 -- int10--------
    rs714476051,2
    C--32429913(+) AAAAA-/AA/AAA
            
    CAGAA
    2 -- int1 cds11NA 2
    rs1464329451,2
    C--32436313(+) CTAGCC/TTTGGT 1 -- int10--------
    rs1133796141,2
    C--32447341(+) AAAAA-/ATGTAC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs748174551,2
    C,F--32466453(+) GTTTTG/TTTTTT 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs1813622801,2
    --32520552(+) ATGAGG/TTTCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FGD4 (32552463 - 32798984 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FGD4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv267799CNV Insertion20981092
    nsv898970CNV Loss21882294
    nsv527786CNV Gain19592680
    esv2751096CNV Gain17911159

    Human Gene Mutation Database (HGMD): FGD4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 611104   
    OMIM disorders: 609311  
    UniProtKB/Swiss-Prot: FGD4_HUMAN, Q96M96
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for FGD4:    
    About MalaCards
    charcot-marie-tooth neuropathy type 4h    sensory peripheral neuropathy    charcot-marie-tooth neuropathy type 4    charcot-marie-tooth disease type 4


    Find genes that share disorders with FGD4           About GenesLikeMe

    GeneTests: FGD4
    GeneReviews: FGD4
    Genetic Association Database (GAD): FGD4
    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)
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    PubMed articles for FGD4 gene, integrated from 10 sources (see all 36):
    (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. (J. Biol. Chem. 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. (Biochem. Biophys. Res. Commun. 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. (Am. J. Hum. Genet. 2007)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. 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. (Am. J. Hum. Genet. 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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. (Oncogene 2001)
    8. 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. (Neurology 2009)
    9. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. (PubMed id 19221294)1, 9 Houlden H....Reilly M.M. (Neurology 2009)
    10. Differential protein expression by dendritic cells from 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. (Int. Arch. Allergy Immunol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 121512 HGNC: 19125 AceView: FGD4 Ensembl:ENSG00000139132 euGenes: HUgn121512
    ECgene: FGD4 H-InvDB: FGD4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for FGD4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FGD4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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