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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
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