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    FGD2 FYVE, RhoGEF and PH domain containing 2 [ Homo sapiens ]

    Gene ID: 221472, updated on 11-May-2012
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    Summary

    Official Symbol
    FGD2provided by HGNC
    Official Full Name
    FYVE, RhoGEF and PH domain containing 2provided by HGNC
    Primary source
    HGNC:3664
    Locus tag
    RP3-405J24.2
    See related
    Ensembl:ENSG00000146192; HPRD:05478; MIM:605091; Vega:OTTHUMG00000014616
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZFYVE4; FLJ00048; FLJ40929; MGC71330
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    Genomic context

    Location :
    6p21.2
    Sequence :
    Chromosome: 6; NC_000006.11 (36973423..36996845)
    See FGD2 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene peptidase inhibitor 16 Neighboring gene mitochondrial carrier 1 Neighboring gene cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2 Neighboring gene ribosomal protein L12 pseudogene 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles. Huber C, et al. J Biol Chem, 2008 Dec 5. PMID 18838382.
    2. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Delague V, et al. Am J Hum Genet, 2007 Jul. PMID 17564959.
    3. Large-scale analysis of the human ubiquitin-related proteome. Matsumoto M, et al. Proteomics, 2005 Nov. PMID 16196087.
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039.

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. FGD2 has a role in leukocyte signaling and vesicle trafficking in cells specialized to present antigen in the immune system
      Title: FGD2, a CDC42-specific exchange factor expressed by antigen-presenting cells, localizes to early endosomes and active membrane ruffles.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:128730 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • G alpha (12/13) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • NRAGE signals death through JNK, organism-specific biosystem (from REACTOME)
      NRAGE signals death through JNK, organism-specific biosystemOnce bound by either NGF or proNGF, p75NTR interacts with NRAGE, thus leading to phosphorylation and activation of JUN Kinase (JNK). JNK controls apoptosis in two ways: it induces transcription of pr...
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Rho guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    apoptotic process TAS
    Traceable Author Statement
    more info
    		  
    cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    induction of apoptosis by extracellular signals TAS
    Traceable Author Statement
    more info
    		  
    nerve growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    regulation of Cdc42 GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of Rho protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
    lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    ruffle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    FYVE, RhoGEF and PH domain-containing protein 2
    Names
    FYVE, RhoGEF and PH domain-containing protein 2
    FLJ00276 protein
    FGD1 family, member 2
    zinc finger FYVE domain-containing protein 4
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_173558.3 → NP_775829.2  FYVE, RhoGEF and PH domain-containing protein 2

      Status: VALIDATED

      Source sequence(s)
      AL160264, BC023645, BC053655
      Consensus CDS
      CCDS4829.1
      UniProtKB/Swiss-Prot
      Q7Z6J4
      Related
      ENSP00000274963, OTTHUMP00000016320, ENST00000274963, OTTHUMT00000040398
      Conserved Domains (5) summary
      cd00065
      Location:460 – 514
      Blast Score: 203
      FYVE; FYVE domain; Zinc-binding domain; targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P; present in Fab1, YOTB, Vac1, and EEA1;
      cd00160
      Location:104 – 260
      Blast Score: 384
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
      cd00821
      Location:547 – 639
      Blast Score: 112
      PH; Pleckstrin homology (PH) domain
      cd01219
      Location:319 – 419
      Blast Score: 437
      PH_FGD; FGD (faciogenital dysplasia protein) pleckstrin homology (PH) domain
      pfam01363
      Location:453 – 519
      Blast Score: 256
      FYVE; FYVE zinc finger

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      36973423..36996845
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      36691770..36715184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL160264.22 CAI20471.1
    genomic CH471081.1 EAX03932.1
      EAX03933.1
    mRNA AK024456.1 BAB15746.1
    mRNA AK092732.1 None
    mRNA AK097230.1 BAC04982.1
    mRNA AK097981.1 None
    mRNA AK098248.1 None
    mRNA AK131079.1 BAC85129.1
    mRNA AK290419.1 BAF83108.1
    mRNA AK300964.1 BAG62589.1
    mRNA AK301156.1 BAG62746.1
    mRNA BC023645.2 AAH23645.1
    mRNA BC053655.1 AAH53655.1
    mRNA BC062363.1 None
    mRNA BX648164.1 None
    other-genetic DQ893612.2 ABM84538.1
    other-genetic DQ894928.2 ABM85854.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6J4.1 GenPept UniProtKB/Swiss-Prot:Q7Z6J4
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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