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FLASH GENE
Symbol RAC2 contributors: mct/pgu - updated : 04-11-2016
HGNC name ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
HGNC id 9802
Corresponding disease
NIDS neutrophil immunodeficiency syndrome
Location 22q13.1      Physical location : 37.621.311 - 37.640.305
Synonym name rho family, small GTP binding protein Rac2
Synonym symbol(s) EN-7, Gx, HSPC022
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 18.99 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   enhancer
text structure
  • a 135bp cis element located between -4223 and -4008bp upstream of the RAC2 transcription start site
  • AP1 binds to this cis element
  • MAPPING cloned Y linked N status confirmed
    Physical map
    RABL4 22q13.1 RAB, member of RAS oncogene family-like 4 PVALB 22q13.1 parvalbumin NCF4 22q13.1 neutrophil cytosolic factor 4, 40kDa CSF2RB 22q13.1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) CSF2RB2 22q13.1 colony stimulating factor 2 receptor, beta, 2 MGC35206 22q13.1 hypothetical protein MGC35206 TST 22q13.1 thiosulfate sulfurtransferase (rhodanese) MPST 22q13.1 mercaptopyruvate sulfurtransferase FLJ12242 22q13.1 hypothetical protein FLJ12242 TMPRSS6 22q13.1 transmembrane serine protease 6 IL2RB 22q13.1 interleukin 2 receptor, beta C1QTNF6 22q13.1 C1q and tumor necrosis factor related protein 6 SSTR3 22q13.1 somatostatin receptor 3 RAC2 22q13.1 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) PSCD4 22q13.1 pleckstrin homology, Sec7 and coiled-coil domains 4 KIAA1904 22q13.1 KIAA1904 protein MFNG 22q13.1 manic fringe homolog (Drosophila) CARD10 22q13 caspase recruitment domain family, member 10 CDC42EP1 22q13.1 CDC42 effector protein (Rho GTPase binding) 1 LGALS2 22q13.1 lectin, galactoside-binding, soluble, 2 (galectin 2) GGA1 22q13.31 golgi associated, gamma adaptin ear containing, ARF binding protein 1 SH3BP1 22q13.1 SH3-domain binding protein 1 PLP
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 1516 21.3 192 - 2006 16772332
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticneutrophil
    cell lineage specifically in hemopoietic lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four of the five conserved functional domains in Ras associated with binding and hydrolysis of guanine nucleotides
  • a C terminal consensus sequence which localizes ras to the inner plasma membrane
  • HOMOLOGY
    interspecies homolog to botulinism ras-related C3 toxin substrate 2
    intraspecies homolog to RAC1, RAC3
    Homologene
    FAMILY member of the Rho family of GTPase
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nuclear envelope
    text complexing with GDI in the cytosol of unstimulated neutrophils, translocated to the plasma membrane after activation
    basic FUNCTION
  • involved in the production of superoxide in neutrophils
  • putative regulator of mitogen-induced cytoskeletal changes essential for membrane ruffling and C-jun aminoterminal kinase JNK
  • regulator of actin filament at the plasma membrane to produce lamellipodia and membrane ruffles
  • key downstream target in Ras signaling
  • linking growth factor receptor to the activator of actin polymerization
  • activating JNK signaling pathway
  • reduction of oxygen to O-2 at the expense of NADPH,the O2-generated is the precursor of potent oxidants used to kill the invading microorganisms
  • have distinct roles in regulating cell morphology, migration and invasion, but are not essential for macrophage migration or chemotaxis
  • plays a critical role in host defense
  • plays an important role in cell migration with activation of membrane ruffling, whereas the other members of the Rho family, like RHOA and CDC42, mediate stress fibers and filopodia formation, respectively
  • in hematopoietic cells regulates leukocyte lineage distribution and in nonhematopoietic cells might contribute to regulating circulating neutrophil counts
  • play essential roles in coordinating directional migration and superoxide production during neutrophil responses to chemoattractants
  • RAC1 and RAC2 GTPases are essential for normal bone marrow erythropoiesis but that they are dispensable for erythropoiesis in the spleen, implying different signaling pathways for homeostatic and stress erythropoiesis
  • important role in mature osteoclasts
  • required for the formation of neutrophil extracellular traps
  • NCF1 and RAC2 accumulate only transiently at the phagosome at the onset of NADPH activity and detach from the phagosome before the end of ROS production
  • controls tumor growth, metastasis and M1-M2 macrophage differentiation
  • important role for RAC2 in maintaining mitochondrial integrity
  • CELLULAR PROCESS cell cycle
    cell communication
    PHYSIOLOGICAL PROCESS
    text cell cycle progression through G1 to S
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • component of NADPH oxidase system CYBB245
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in activated cells PLD2 affects RAC2 in an initial positive feedback, but as RAC2-GTP accumulates in the cell, this constitutes a termination signal leading to PLD2 inactivation
  • importance of functional interactions between PLD and Rac in the biological response of cell migration
  • PLD2 binds directly to RAC2, resulting in PLD2 functioning as a guanine nucleotide exchange factor (GEF), because it switches RAC2 from the GDP-bound to the GTP-bound states
  • S-glutathionylated RAC2 enhanced the binding of GTP, presumably due to structural alterations
  • PLXNB1 binds in a GTP-dependent manner to RAC1, RAC2, RAC3, RND1, RND2, RND3, and RHOD
  • cell & other
    REGULATION
    Other putatively mediated by EPS58 and SSH3BP1
    ASSOCIATED DISORDERS
    corresponding disease(s) NIDS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in severe congenital neutropenia
    tumoral     --low  
    exhausts the leukemic stem cells pool, through impairment of oncogene-induced proliferation and survival signals
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rac2(-/-) mice are of normal size and have normal tooth eruption, but femoral cortical thickness was significantly greater compared to wild-type mice