Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PLEKHG5 contributors: mct - updated : 04-06-2014
HGNC name pleckstrin homology domain containing, family G (with RhoGef domain) member 5
HGNC id 29105
Corresponding disease
LMND2 lower motor neuron disease 2
RICMTC Charcot-Marie-Tooth disease, recessive intermediate C
Location 1p36.31      Physical location : 6.526.151 - 6.580.069
Synonym name
  • novel PH domain-containing protein
  • KIAA0720 protein
  • brain specific RhoA exchange factor
  • guanine nucleotide exchange factor 720
  • putative NFkB activating protein
  • PH domain-containing family G member 5
  • Synonym symbol(s) KIAA0720, DSMA4, GEF720, RP4-650H14.3, SYX, Tech
    DNA
    TYPE pseudogene
    STRUCTURE 53.92 kb     22 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 4643 - 1006 - 2001 11704860
    22 - 5221 - 1083 - 2001 11704860
    22 - 4761 117.4 1062 - 2001 11704860
    21 - 4715 - 1006 - 2001 11704860
    21 - 4698 - 1006 - 2001 11704860
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunespleen   highly
    Nervousbrainlimbic systemhippocampus highly Homo sapiens
     nervespinal nerve  highly
    Respiratoryrespiratory tractlarynx  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope
    basic FUNCTION
  • may play a role in regulating lymphocyte homeostasis
  • activating RhoA and involved in the control of neuronal cell differentiation
  • regulates RhoA signaling pathways in developing and mature forebrain neurons
  • recruited to junctions by members of the Crumbs polarity complex and promoted junction integrity by activating Diaphanous
  • importance of PLEKHG5 function in maintaining stable cell-cell contacts
  • RHOA-specific guanine nucleotide exchange factor PLEKHG5 is required for the polarity of actively migrating brain and breast tumor cells (PMID
  • recruitment of PLEKHG5 to the cell membrane and the subsequent selective activation of DIAPH1 signaling, coupled with the suppression of ROCK1 and activation of cofilin-mediated actin reorganization, plays a key role in establishing cell polarity during directed cell migration (PMID
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component AMOT forms a ternary complex together with INADL (or its paralogue MPDZ) and PLEKHG5
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts directly with the adapter TRADD
  • RND3 effector that interacts with RNDs via a RAF1-like Ras-binding domain
  • RND1, RND2, and RND3 stability is acutely dependent on interaction with their effectors such as PLEKHG5 or ARHGAP35
  • VEGFA caused translocation of PLEKHG5 from cell junctions, promoting junction disassembly, whereas ANGPT1 maintained PLEKHG5 at the junctions, inducing junction stabilization
  • binding of 14-3-3 proteins inhibits the GEF activity of PLEKHG5
  • may interact with a variety of partners including multiple PDZ domain protein 1 [MUPP1 or MPDZ)
  • function of PLEKHG5 is mediated by the selective activation of the RHOA downstream effector DIAPH1 (PMID
  • cell & other
    REGULATION
    repressed by RND3 (negatively regulates PLEKHG5, and that as a RhoA-GEF it plays a key role in early embryonic cell shape changes)
    ASSOCIATED DISORDERS
    corresponding disease(s) LMND2 , RICMTC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • syx(-/-) mice had defective junctions, resulting in vascular leakiness, edema, and impaired heart function