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FLASH GENE
Symbol RAPGEF2 contributors: mct - updated : 07-11-2016
HGNC name Rap guanine nucleotide exchange factor (GEF) 2
HGNC id 16854
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • RAS-GEF domain
  • a PDZ domain containing guanine nucleotide exchange factor (GEF)1, essential and sufficient for targeting RAPGEF2 to the apical membrane of polarized intestinal epithelial cells
    • HOMOLOGY
    interspecies homolog to C.elegans Ra-gef
    intraspecies homolog to related to KIAA0277
    Homologene
    FAMILY
  • guanine nucleotide exchange factor for Ras-like small GTPases
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • activating RAP1A and RAP2A
  • crucial function of RAPGEF2 in neural migration
  • is essential for embryonic hematopoiesis but dispensable for adult hematopoiesis
  • essential role of RAPGEF2 in the proper formation of the cerebral midline commissures
  • by binding to phosphatidic acid enriched at the apical membrane, RAPGEF2 locally activates RAP2A resulting in induction of brush border formation via a pathway that includes the polarity players TNIK, STK26 and Ezrin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds specifically to nucleotide free RAP1A/RAP2A
  • binds specifically to RAP1A and Ra2b-GTP
  • guanine nucleotide exchange factor responsible for sustained activation of RAP1A
  • F11R associates directly with TJP2 and indirectly with afadin, and this complex, along with RAPGEF2, activates the small GTPase RAP2C
  • acts on the multipolar-bipolar transition during neuronal migration via a RAP1A/N-cadherin pathway
  • specific expression and CDK5-dependent phosphorylation of RAPGEF2 during multipolar-bipolar transition within the intermediate zone are essential for proper neuronal migration and wiring of the cerebral cortex
  • FBXW11 bound, polyubiquitylated, and destabilized RAPGEF2, a guanine nucleotide exchange factor that activates the small GTPase TERF2IP
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BAFME7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Rapgef2 (-/-) mice embryos proper show severe defects in the formation of major blood vessels