Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

FGD1 Gene

protein-coding   GIFtS: 63
GCID: GC0XM054488

FYVE, RhoGEF and PH domain containing 1

(Previous name: faciogenital dysplasia (Aarskog-Scott syndrome) )
(Previous symbol: FGDY)
 Explore 20 diseases affiliated with
FGD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FGD1    

Aliases
for FGD1 gene

(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 11 2     Zinc Finger FYVE Domain-Containing Protein 32 3
FGDY1 2 3 5     AAS2 5
ZFYVE31 2 3     MRXS162 5
Faciogenital Dysplasia 1 Protein2 3     Faciogenital Dysplasia (Aarskog-Scott Syndrome)1
Rho/Rac GEF2 3     FYVE, RhoGEF And PH Domain-Containing Protein 12
Rho/Rac Guanine Nucleotide Exchange Factor FGD12 3     

External Ids:    HGNC: 36631   Entrez Gene: 22452   Ensembl: ENSG000001023027   OMIM: 3005465   UniProtKB: P981743   

Export aliases for FGD1 gene to outside databases

Previous GC identifers: GC0XM051323 GC0XM052410 GC0XM053077 GC0XM053438 GC0XM054354 GC0XM051522


Summaries
for FGD1 gene

(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 FGD1:
This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho
family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can
stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein
kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of faciogenital
dysplasia and X-linked mental retardation, syndromatic 16.(provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174
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

Gene Wiki entry for FGD1


Genomic Views
for FGD1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011630.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FGD1 gene promoter:
         Max1   CREB   RP58   PPAR-gamma1   deltaCREB   AP-2beta   PPAR-gamma2   AP-2gamma   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FGD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FGD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGD1


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

Entrez Gene cytogenetic band: Xp11.21   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.21

FGD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FGD1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM054488:  view genomic region     (about GC identifiers)

Start:
 54,471,887 bp from pter      End:
 54,522,599 bp from pter
Size:
 50,713 bases      Orientation:
 minus strand

Proteins
for FGD1 gene

(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: FGD1_HUMAN, P98174 (See protein sequence)
Recommended Name: FYVE, RhoGEF and PH domain-containing protein 1  
Size: 961 amino acids; 106561 Da
Subunit: Interacts with DBNL/ABP1 and CTTN. May interact with CCPG1 (By similarity). Binds CDC42
Subcellular location: Cytoplasm (By similarity). Cell projection, lamellipodium (By similarity). Cell projection,
ruffle (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Associated with membrane ruffles and
lamellipodia (By similarity)
Secondary accessions: Q5H999 Q8N4D9

Explore the universe of human proteins at neXtProt for FGD1: NX_P98174

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P98174

    • FGD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004454.2  
    ENSEMBL proteins: 
     ENSP00000364277  
    Reactome Protein details: P98174
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: FGD1
    OriGene Custom Protein Services for FGD1 
    GenScript Custom Purified and Recombinant Proteins Services for FGD1
    Novus Biologicals FGD1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for FGD1

    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:0005634nucleus IDA--
    GO:0005737cytoplasm ISS--
    GO:0005794Golgi apparatus ISS--
    GO:0005829cytosol TAS--


    FGD1 for ontologies           About GeneDecksing



    FGD1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FGD1 
    GenScript Custom Superior Antibodies Services for FGD1
    Novus Biologicals FGD1 Antibodies
    Search for Antibodies for FGD1 at Abcam  
    Uscn Antibodies for FGD1
    Search ThermoFisher Antibodies for FGD1

    Assay Products for FGD1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FGD1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FGD1

    Protein Domains /
    Families
    for FGD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FGD1 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 P98174

    ProtoNet protein and cluster: P98174

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


    UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174
    Domain: The DH domain is involved in interaction with CCPG1 (By similarity)
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 2 PH domains


    Function
    for FGD1 gene

    (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: FGD1_HUMAN, P98174
    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

         Genatlas biochemistry entry for FGD1:
    Rho/Rac,CDC42Hs specific (guanine nucleotide exchange factor) 1,involved in signal transduction and mammalian
    morphogenesis

    miRNA
    Products:            		 OriGene 3'-UTR Clone: FGD1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGD1
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate FGD1 (see all 34):
    hsa-miR-328 hsa-miR-429 hsa-miR-106a hsa-miR-488 hsa-miR-650 hsa-miR-183* hsa-miR-93 hsa-miR-4293
    SwitchGear 3'UTR luciferase reporter plasmid: FGD1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGD1 (see all 7)
    OriGene shRNA RFP: FGD1
    OriGene siRNA: FGD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGD1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FGD1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FGD1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FGD1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FGD1 (NM_004463)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FGD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGD1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for FGD1
    Search LifeMap BioReagents cell lines for FGD1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGD1

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IDA8969170
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
    GO:0031267small GTPase binding IDA8969170


    FGD1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for FGD1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 


    Pathways & Interactions
    for FGD1 gene

    (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 - 5/7 super-pathways (see all 7) 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
    3Regulation of Actin Cytoskeleton
    		Regulation of Actin Cytoskeleton1.00
    		Regulation of actin cytoskeleton0.58
    4G-protein signaling Regulation of RAC1 activity
    		G-protein signaling Regulation of CDC42 activity0.25
    		G-protein signaling_Regulation of CDC42 activity0.25
    5Regulation of CDC42 activity
    		Regulation of CDC42 activity1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for FGD1
        G-protein signaling Regulation of CDC42 activity

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for FGD1
        CDC42 Pathway

    1 GeneGo (Thomson Reuters) Pathway for FGD1
        G-protein signaling Regulation of CDC42 activity

    2 BioSystems Pathways for FGD1 
        Regulation of Actin Cytoskeleton
    Regulation of CDC42 activity

    5/10        Reactome Pathways for FGD1 (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


    1         Kegg Pathway  (Kegg details for FGD1):
        Regulation of actin cytoskeleton


    FGD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FGD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/58 Interacting proteins for FGD1 (P981743 ENSP000003642774) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTTNQ142473, ENSP000003018434I2D: score=4 STRING: ENSP00000301843
    BTRCQ9Y2973, ENSP000003592064I2D: score=1 STRING: ENSP00000359206
    ELMO1Q925563, ENSP000003121854I2D: score=1 STRING: ENSP00000312185
    ABP1P198013, ENSP000003541934I2D: score=1 STRING: ENSP00000354193
    CDC42P609533, ENSP000003144584I2D: score=2 STRING: ENSP00000314458
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0007010cytoskeleton organization ISS--
    GO:0007165signal transduction TAS8969170
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007275multicellular organismal development TAS8969170


    FGD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for FGD1 gene

    (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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FGD1

    1 HMDB Compound for FGD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about FGD1 

    Transcripts
    for FGD1 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 FGD1 gene: 
    NM_004463.2  

    Unigene Cluster for FGD1:

    FYVE, RhoGEF and PH domain containing 1
    Hs.709201  [show with all ESTs]
    Unigene Representative Sequence: NM_004463
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000375135(uc011moi.1 uc004dtg.3)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: FGD1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FGD1
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate FGD1 (see all 34):
    hsa-miR-328 hsa-miR-429 hsa-miR-106a hsa-miR-488 hsa-miR-650 hsa-miR-183* hsa-miR-93 hsa-miR-4293
    SwitchGear 3'UTR luciferase reporter plasmid: FGD1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGD1 (see all 7)
    OriGene shRNA RFP: FGD1
    OriGene siRNA: FGD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGD1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FGD1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FGD1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FGD1 (NM_004463)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FGD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGD1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FGD1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FGD1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FGD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGD1

    Additional cDNA sequence: 

    AK226117.1 AK299635.1 BC034530.1 U11690.1 

    5 DOTS entries:

    DT.97792950  DT.92433742  DT.40120587  DT.121295232  DT.410216 

    24/75 AceView cDNA sequences (see all 75):

    BM015102 BM459559 F02726 BC034530 AA340451 BX105053 CR617413 AI952456 
    NM_004463 AL042434 BU616385 F06440 BU784520 BU849473 AA887332 CA454492 
    BM727192 BE646316 AI061073 BG025170 F02723 AA327069 BQ024326 CF265039 

    GeneLoc Exon Structure


    Expression
    for FGD1 gene

    (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

    FGD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    FGD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalHeart
    LimbStylopodLimb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FGD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FGD1

    SOURCE GeneReport for Unigene cluster: Hs.709201

    UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174
    Tissue specificity: Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart,
    brain, lung, pancreas and skeletal muscle

        SABiosciences Custom PCR Arrays for FGD1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FGD1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FGD1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FGD1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGD1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGD1

    Orthologs
    for FGD1 gene

    (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 FGD1 gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia FGD16
    		 --
    		 64(a)
    		 1 ↔ 1
    		 1(205292888-205318129)
    zebrafish
    (Danio rerio)    		 Actinopterygii fgd11 FYVE, RhoGEF and PH domain containing 1 65.54(n)
    68.43(a)    		   560305  XM_683702.3  XP_688794.3 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 30(a)
    		 1 → many
    		 Group2.1(18879-21756)
    worm
    (Caenorhabditis elegans)    		 Secernentea exc-53 PH (pleckstrin homology) domain 28(a)   IV(8801069-8802157)   --


    ENSEMBL Gene Tree for FGD1 (if available)
    TreeFam Gene Tree for FGD1 (if available) 

    Paralogs
    for FGD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FGD1 gene
    FGD32  PLEKHF22  FGD52  PLEKHF12  FGD22  FGD62  FGD42  
    4 SIMAP similar genes for FGD1 using alignment to 1 protein entry:     FGD1_HUMAN:
    FGD2    FGD4    FGD3    FLJ00004

    FGD1 for paralogs           About GeneDecksing



    Genomic Variants
    for FGD1 gene

    (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

    10/547 NCBI SNPs in FGD1 are shown (see all 547)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs289354971,2
    		Cpathogenic54482666(-) AGACCA/GATACC 2 Q R mis1 ese30--------
    rs289354981,2
    		C,pathogenic54496615(-) CTGCCC/TTGGGC 2 P L mis12Minor allele frequency- T:0.00NA 3630
    rs1911115941,2
    		--54471492(+) ACACAC/TGCAAC 2 -- ut31 ds50010--------
    rs1837049381,2
    		--54471493(+) CACACC/GCAACA 2 -- ds5001 ut310--------
    rs1874280921,2
    		--54471517(+) GCCCAA/GAACTT 2 -- ds5001 ut310--------
    rs1903062301,2
    		--54471546(+) TGCCTG/TCCTTC 2 -- ds5001 ut310--------
    rs117957041,2
    		C,F,H,--54471641(+) TGTCTC/TCTCTA 2 -- ds5001 ut319Minor allele frequency- T:0.01NS EA NA WA 912
    rs1875070101,2
    		--54471719(+) AATACC/TTTACT 2 -- ut31 ds50010--------
    rs1916069981,2
    		--54471754(+) AGTAGG/TAGCCT 2 -- int1 ds50010--------
    rs2013535811,2
    		C,--54471978(+) CCCCC-/CTGTTTC 2 -- int1 ut310--------

    HapMap Linkage Disequilibrium report for FGD1 (54471887 - 54522599 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FGD1
         1 CNV: 23256
    Human Gene Mutation Database (HGMD): FGD1

    Locus Specific Mutation Databases (LSDB): FGD1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGD1
    DNA2.0 Custom Variant and Variant Library Synthesis for FGD1

    Disorders / Diseases
    for FGD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FGD1 for disorders           About GeneDecksing

    OMIM gene information: 300546   
    OMIM disorders: 305400  
    UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174
  • Defects in FGD1 are the cause of Aarskog-Scott syndrome (AAS) [MIM:305400]. This faciogenital dysplasia is a
    • rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal, and urogenital
    anomalies
  • Note=Defects in FGD1 are found in a pateint with non-syndromal X-linked mental retardation

    • 20 diseases for FGD1:    About MalaCards
    aarskog-scott syndrome    mental retardation, x-linked    mental retardation, x-linked syndromic 16    mental retardation, x-linked syndromic
    scott syndrome    crane-heise syndrome    attention deficit hyperactivity disorder    developmental disabilities
    short stature    adrenal hypoplasia    brachydactyly    polymicrogyria
    anaplastic astrocytoma    adhd    astrocytoma    twinning
    breast cancer    tuberculosis    prostatitis    mycobacterium tuberculosis

    4 diseases from the University of Copenhagen DISEASES database for FGD1:
    Aarskog-Scott syndrome     Nicotine dependence     Cocaine dependence     Alcohol dependence

    7 Novoseek disease relationships for FGD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aarskog syndrome 96.1 11 10906777 (2), 10458911 (2), 11093277 (2), 10721717 (2) (see all 7)
    genitourinary anomaly 77.2 1 15809997 (1)
    dysplasia 76.2 29 10906777 (2), 9268645 (2), 12913069 (2), 10721717 (2) (see all 14)
    short stature 70.1 1 15809997 (1)
    developmental disabilities 68.5 4 10906777 (1), 10458911 (1), 10721717 (1), 8994827 (1)
    brachydactyly 66 1 15809997 (1)
    mental retardation 42.2 2 11940089 (2)

    Genatlas disease: FGD1
    Aarskog syndrome,faciogenital dysplasia and brachydactyly

    Genetic Association Database (GAD): FGD1

    Export disorders for FGD1 gene to outside databases

    Publications
    for FGD1 gene

    (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 FGD1 gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with FGD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. (PubMed id 14560308)1, 2, 4, 9 Orrico A.... Sorrentino V. (2004)
    2. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. (PubMed id 11940089)1, 2, 4, 9 Lebel R.R....Schwartz C.E. (2002)
    3. A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (PubMed id 10930571)1, 2, 9 Orrico A.... Sorrentino V. (2000)
    4. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. (PubMed id 11093277)1, 2, 9 Schwartz C.E.... Neri G. (2000)
    5. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (PubMed id 7954831)1, 2, 9 Pasteris N.G.... Gorski J.L. (1994)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs- specific guanine-nucleotide exchange factor. (PubMed id 8969170)1, 2 Zheng Y.... Xu Y. (1996)
    8. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). (PubMed id 10906777)1, 9 Gorski J.L....Liu Z. (2000)
    9. Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation. (PubMed id 19261807)1, 9 Egorov M.V....Polishchuk R.S. (2009)
    10. Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape. (PubMed id 12913069)1, 9 Hou P....Gorski J.L. (2003)

    External Searches for FGD1 gene

    (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)

    Genome Databases showing FGD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2245 HGNC: 3663 AceView: FGD1 Ensembl:ENSG00000102302 euGenes: HUgn2245
    ECgene: FGD1 Kegg: 2245 H-InvDB: FGD1

    Other Databases showing FGD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FGD1 gene

    (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 FGD1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FGD1

    Intellectual Property
    for FGD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FGD1 gene:
    Search GeneIP for patents involving FGD1

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



    Products
    for FGD1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for FGD1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FGD1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FGD1  
     OriGene Protein Over-expression Lysate for FGD1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for FGD1   OriGene 3'-UTR Clone for FGD1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FGD1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FGD1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FGD1   OriGene Custom Protein Services for FGD1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FGD1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FGD1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FGD1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FGD1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FGD1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FGD1
     GenScript Custom Purified and Recombinant Proteins Services for FGD1 GenScript cDNA clones with any tag delivered in your preferred vector for FGD1
     GenScript Custom Assay Services for FGD1 GenScript Custom Superior Antibodies Services for FGD1
     GenScript Custom overexpressing Cell Line Services for FGD1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in FGD1 promoter
     Search Chromatin IP Primers for FGD1
     RT2 qPCR Primer Assay in human, mouse, rat FGD1
     GNC Network for FGD1
     SABiosciences PCR Arrays including human, mouse, rat FGD1
     Search Tocris compounds for FGD1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FGD1 antibodies
     FGD1 lysates
     Search for Antibodies for FGD1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for FGD1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     FGD1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for FGD1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGD1
     SwitchGear 3'UTR luciferase reporter plasmids for FGD1
     SwitchGear Promoter luciferase reporter plasmids for FGD1
     Search ThermoFisher Antibodies for FGD1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FGD1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      FGD1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4