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FLASH GENE
Symbol ARHGEF12 contributors: mct/pgu - updated : 08-07-2013
HGNC name Rho guanine nucleotide exchange factor (GEF) 12
HGNC id 14193
Location 11q23.3      Physical location : 120.207.945 - 120.360.645
Synonym name
  • cDNA sequence,expressed in brain,>100kDa,related to murine LSC oncogene
  • leukemia-associated Rho guanine nucleotide exchange factor (GEF)
  • Synonym symbol(s) KIAA0382, LARG, PRO2792, DKFZp686O2372
    DNA
    TYPE functioning gene
    STRUCTURE 153.03 kb     41 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    CBL 11q23.3 Cas-Br-M (murine) ecotropic retroviral transforming sequence MCAM 11q23.3 melanoma cell adhesion molecule RNF26 11q23 ring finger protein 26 C1QTNF5 11q23.3 C1q and tumor necrosis factor related protein 5 MFRP 11q23 membrane frizzled-related protein USP2 11q23.3 ubiquitin specific protease 2 LOC94105 11q22.3-q23 Thy-1 co-transcribed THY1 11q23.3 Thy-1 cell surface antigen LOC387813 11 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 PVRL1 11q23-q24 poliovirus receptor-related 1 (herpesvirus entry mediator C; nectin) LOC390255 11 similar to HLA-B-associated transcript 1A; nuclear RNA helicase Bat1 LOC387814 11 LOC387814 TRIM29 11q22-q23 tripartite motif-containing 29 LOC219908 11q23.3 hypothetical LOC219908 NS5ATP13TP2 11q23.3 NS5ATP13TP2 protein POU2F3 11q23.3 POU domain, class 2, transcription factor 3 MGC17839 11q23.3 hypothetical protein MGC17839 ARHGEF12 11q23.3 Rho guanine nucleotide exchange factor (GEF) 12 GRIK4 11q23 glutamate receptor, ionotropic, kainate 4 MGC10233 11q23.3 hypothetical protein MGC10233 TECTA 11q22-q24 tectorin alpha SC5DL 11q24.2-q24.3 sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like LOC283155 11q23.3 similar to bone morphogenetic protein receptor, type IA precursor; activin A receptor, type II-like kinase 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    41 - 9501 - 1544 - 2000 11094164
    40 - 9772 - 1525 - 2000 11094164
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • from N terminal,a PDZ (PSD/dics large/ZO1) domain
  • a LSC homology domain (LH)
  • a bipartite nuclear localization signal (NLS)
  • a DBL homology domain and a pleckstrin homology (PH) domain
  • HOMOLOGY
    interspecies homolog to murine Arhgef12 (89.4pc)
    homolog to rattus Arhgef12 (88.8pc)
    Homologene
    FAMILY
  • GEF family
  • CATEGORY regulatory , tumor suppressor , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    text
  • during cytokinesis, is condensed in the midbody, where it colocalizes with RHOA
  • basic FUNCTION
  • stimulating Rho-dependent signaling pathway
  • playing a role in SEMA4D-plexin-B1 mediating signal transduction
  • role for the exchange factors ARHGEF1 and ARHGEF12 in linking fibronectin signals to downstream RhoA activation
  • acting as a guanine nucleotide exchange factor for RhoA GTPase and may act as a GTPase-activating protein for GNA12, GNA13
  • candidate tumor suppressor gene
  • is a novel and temporally distinct RhoGEF required for completion of abscission
  • with ARHGEF10, ARHGEF2, ARHGEF12, PLEKHG1 and ARHGEF28, are involved in cyclic-stretch-induced perpendicular reorientation of endothelial cells
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • homo or hetero-oligomerizing with PDZ-RhoGEF
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding PLXNB1 cytoplasmic tail through the PDZ domain, PLXNB2, RHOA
  • interacting with GNA12 and GNA13
  • interacting with IGF1R
  • displayed GTPase activating protein (GAP) activity towards MAP3K7and, upon overexpression, impaired cell scattering, invasion and adhesion to fibronectin in response to HGF
  • associating with UNC5B to transduce the RhoA signal
  • is a new substrate of CYLD, providing novel insights into the regulation of RHOA activation
  • cell & other
    REGULATION
    activated by interaction with GNA13
    Other phosphorylated upon DNA damage probably by ATM or ATR
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    frequently underexpressed in breast and colorectal carcinomas
    tumoral fusion      
    with HRX (5' HRX-LARG) in acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS