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

FGD1 Gene

protein-coding   GIFtS: 64
GCID: GC0XM054488

FYVE, RhoGEF And PH Domain Containing 1

(Previous name: faciogenital dysplasia (Aarskog-Scott syndrome))
(Previous symbol: FGDY)
  22 related diseases
at
MalaCards
 

Aliases
for FGD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
FYVE, RhoGEF And PH Domain Containing 11 2     ZFYVE32 3
FGDY1 2 3 5     AAS2 5
Faciogenital Dysplasia 1 Protein2 3     MRXS162 5
Rho/Rac GEF2 3     Faciogenital Dysplasia (Aarskog-Scott Syndrome)1
Rho/Rac Guanine Nucleotide Exchange Factor FGD12 3     FYVE, RhoGEF And PH Domain-Containing Protein 12
Zinc Finger FYVE Domain-Containing Protein 32 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 Gene:
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)

GeneCards Summary for FGD1 Gene: 
FGD1 (FYVE, RhoGEF and PH domain containing 1) is a protein-coding gene. Diseases associated with FGD1 include aarskog-scott syndrome, and unilateral focal polymicrogyria, and among its related super-pathways are Regulation of actin cytoskeleton and NRAGE signals death through JNK. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHF2.

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 Gene


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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for FGD1 at MOPED 

Post-translational modifications:

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

    • FGD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FGD1 Protein Expression
    REFSEQ proteins: NP_004454.2  
    ENSEMBL proteins: 
     ENSP00000364277  
    Reactome Protein details: P98174
    Human Recombinant Protein Products for FGD1: 
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    Cloud-Clone Corp. 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



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    Assay Products for FGD1: 
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    Protein Domains /
    Families
    for FGD1 gene

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

    5/7 InterPro protein domains (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 domains:
    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


    FGD1 for domains           About GeneDecksing


    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, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


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

    Animal Models:
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    miRNA
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    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
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    Gene Editing
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    Clone
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    Pathways & Interactions
    for FGD1 gene

    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FGD1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Actin Cytoskeleton
    		Regulation of Actin Cytoskeleton0.57
    		Regulation of actin cytoskeleton0.57
    2Cell death signalling via NRAGE, NRIF and NADE
    		Cell death signalling via NRAGE, NRIF and NADE0.74
    		p75 NTR receptor-mediated signalling0.73
    		NRAGE signals death through JNK0.74
    		G alpha (12/13) signalling events0.46
    3Signaling by GPCR
    		Signaling by GPCR0.90
    		Signal Transduction0.55
    		GPCR downstream signaling0.90
    4Rho GTPase cycle
    		Signaling by Rho GTPases1.00
    		Rho GTPase cycle1.00
    5Signaling by FGFR
    		Signalling by NGF0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    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
    AOC1P198013, ENSP000003541934I2D: score=1 STRING: ENSP00000354193
    CDC42P609533, ENSP000003144584I2D: score=2 STRING: ENSP00000314458
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization ISS--
    GO:0007165signal transduction TAS8969170
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007275multicellular organismal development TAS8969170
    GO:0008360regulation of cell shape ISS--

    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, Ligands according to IUPHAR, 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
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    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 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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
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    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
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    Additional mRNA 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):

    CA454492 NM_004463 CR617413 AA887332 BM727192 BM015102 F02726 AI061073 
    BE646316 AA340451 AI952456 F06440 BC034530 BU784520 AL042434 BU616385 
    BX105053 BM459559 BU849473 AL529723 BG330854 AL040677 AL042435 BM681662 

    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)      FGD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FGD1 Expression
    About this image


    FGD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Stylopod
             limb/hindlimb/leg   
     
     Eye (Sensory Organs)
             retinal amacrine cell p0   

    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

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    In Situ
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    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 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Fgd11 , 5 FYVE, RhoGEF and PH domain containing 11, 5 91.74(n)1
    95(a)1    		   X (68.46 cM)5
    141631  NM_008001.31  NP_032027.21 
     1510461505 
    lizard
    (Anolis carolinensis)    		 Reptilia FGD16
    		 FYVE, RhoGEF and PH domain containing 1
    		 64(a)
    		 1 ↔ 1
    		 1(205249099-205318129)
    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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta RhoGEF46
    		 RhoGEF4
    		 15(a)
    		 possible ortholog
    		 3L(7314199-7316511)
    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
    PLEKHF22  FGD32  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, 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) 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

    10/698 SNPs in FGD1 are shown (see all 698)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0192704
    		Aarskog-Scott syndrome (AAS)4--see VAR_0192702 E A mis40--------
    VAR_0152364
    		Aarskog-Scott syndrome (AAS)4--see VAR_0152362 R H mis40--------
    VAR_0192714
    		Aarskog-Scott syndrome (AAS)4--see VAR_0192712 R H mis40--------
    VAR_0192684
    		Aarskog-Scott syndrome (AAS)4--see VAR_0192682 S I mis40--------
    rs289354971,2,4
    		CAarskog-Scott syndrome (AAS)4 pathogenic154496952(-) AGACCA/GATACC 2 Q R mis1 ese30--------
    rs289354981,2,4
    		Cpathogenic154510901(-) CTGCCC/TTGGGC 2 P L mis11Minor allele frequency- T:0.00NA 3628
    rs1911115941,2
    		--54485778(+) ACACAC/TGCAAC 1 -- ds50010--------
    rs1837049381,2
    		--54485779(+) CACACC/GCAACA 1 -- ds50010--------
    rs1874280921,2
    		--54485803(+) GCCCAA/GAACTT 1 -- ds50010--------
    rs1903062301,2
    		--54485832(+) TGCCTG/TCCTTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for FGD1 (54471887 - 54522599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FGD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297


    Human Gene Mutation Database (HGMD): FGD1

    Locus Specific Mutation Databases (LSDB): FGD1
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 300546   
    OMIM disorders: 305400  
    UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174
  • Aarskog-Scott syndrome (AAS) [MIM:305400]: A rare multisystemic disorder characterized by
    disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental
    retardation, attention deficit disorder and hyperactivity. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Note=Defects in FGD1 are found in a pateint with non-syndromal X-linked mental retardation

    • 20/22 diseases for FGD1 (see all 22):    About MalaCards
    aarskog-scott syndrome    unilateral focal polymicrogyria    crane-heise syndrome    fgd1-related x-linked mental retardation
    scott syndrome    developmental disabilities    non-specific x-linked mental retardation    polymicrogyria
    short stature    cocaine dependence    brachydactyly    mental retardation
    nicotine dependence    attention deficit hyperactivity disorder    anaplastic astrocytoma    mental retardation, x-linked
    astrocytoma    alcohol dependence    tuberculosis    alcoholism

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

    FGD1 for disorders           About GeneDecksing

    7 Novoseek inferred 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 58):
    (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
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    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



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    About This Section

     
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