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    RAC2 Rac family small GTPase 2 [ Homo sapiens (human) ]

    Gene ID: 5880, updated on 6-Sep-2017
    Official Symbol
    RAC2provided by HGNC
    Official Full Name
    Rac family small GTPase 2provided by HGNC
    Primary source
    HGNC:HGNC:9802
    See related
    Ensembl:ENSG00000128340 MIM:602049; Vega:OTTHUMG00000150540
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Gx; EN-7; HSPC022; p21-Rac2
    Summary
    This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]
    Orthologs
    Location:
    22q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (37225261..37244299, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37621301..37640339, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene C1q and TNF related 6 Neighboring gene somatostatin receptor 3 Neighboring gene ribosomal protein L39 pseudogene 41 Neighboring gene uncharacterized LOC107985576 Neighboring gene uncharacterized LOC105373024 Neighboring gene cytohesin 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Neutrophil immunodeficiency syndrome
    MedGen: C1842398 OMIM: 608203 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    NHGRI GWA Catalog
    Joint influence of small-effect genetic variants on human longevity.
    NHGRI GWA Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Interaction of HIV-1 Nef with a protein complex, which includes Rac2, DOCK2, and ELMO1, activates Rac activity in T cells PubMed
    Tat tat In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex PubMed
    tat HIV-1 Tat activates the small GTPases Ras and Rac and the mitogen-activated protein kinase ERK when expressed in human endothelial cells; this effect is mediated through the arginine-glycine-aspartic (RGD) region of Tat PubMed

    Go to the HIV-1, Human Interaction Database

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    • Adherens junction, conserved biosystem (from KEGG)
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    • Axon guidance, conserved biosystem (from KEGG)
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    • Axon guidance, organism-specific biosystem (from REACTOME)
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    • B cell receptor signaling pathway, organism-specific biosystem (from KEGG)
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    • B cell receptor signaling pathway, conserved biosystem (from KEGG)
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    • Chemokine signaling pathway, organism-specific biosystem (from KEGG)
      Chemokine signaling pathway, organism-specific biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • Chemokine signaling pathway, conserved biosystem (from KEGG)
      Chemokine signaling pathway, conserved biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • Choline metabolism in cancer, organism-specific biosystem (from KEGG)
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    • Choline metabolism in cancer, conserved biosystem (from KEGG)
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    • Colorectal cancer, organism-specific biosystem (from KEGG)
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    • Colorectal cancer, conserved biosystem (from KEGG)
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      DNA Damage Response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Fc epsilon RI signaling pathway, organism-specific biosystem (from KEGG)
      Fc epsilon RI signaling pathway, organism-specific biosystemFc epsilon RI-mediated signaling pathways in mast cells are initiated by the interaction of antigen (Ag) with IgE bound to the extracellular domain of the alpha chain of Fc epsilon RI. The activation...
    • Fc epsilon RI signaling pathway, conserved biosystem (from KEGG)
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    • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
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    • Focal adhesion, conserved biosystem (from KEGG)
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      G alpha (12/13) signalling events, organism-specific biosystemThe G12/13 family is probably the least well characterized subtype, partly because G12/13 coupling is difficult to determine when compared with the other subtypes which predominantly rely on assay te...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPVI-mediated activation cascade, organism-specific biosystem (from REACTOME)
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    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Insulin Signaling, organism-specific biosystem (from WikiPathways)
      Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
    • Integrin-mediated Cell Adhesion, organism-specific biosystem (from WikiPathways)
      Integrin-mediated Cell Adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
    • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
      Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
    • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
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    • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
      MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • PCP/CE pathway, organism-specific biosystem (from REACTOME)
      PCP/CE pathway, organism-specific biosystemThe planar cell polarity (PCP) pathway controls the establishment of polarity within the plane of a sheet of cells. PCP was initially characterized in Drosophila, where it controls the arrangement o...
    • Pancreatic cancer, organism-specific biosystem (from KEGG)
      Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pancreatic cancer, conserved biosystem (from KEGG)
      Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
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      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
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    • RHO GTPases Activate NADPH Oxidases, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate NADPH Oxidases, organism-specific biosystemNADPH oxidases (NOX) are membrane-associated enzymatic complexes that use NADPH as an electon donor to reduce oxygen and produce superoxide (O2-) that serves as a secondary messenger (Brown and Grien...
    • RalA downstream regulated genes, organism-specific biosystem (from WikiPathways)
      RalA downstream regulated genes, organism-specific biosystemDownstream genes of RalA signaling pathways, including the Rac-family GTPase-activating protein RLIP (also known as RLIP76 and ralA binding protein 1 (RALBP1)), CDC42(cell division cycle 42), RAC1 (r...
    • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
      Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Rap1 signaling pathway, conserved biosystem (from KEGG)
      Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Ras signaling pathway, organism-specific biosystem (from KEGG)
      Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
    • Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
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    • Sema4D in semaphorin signaling, organism-specific biosystem (from REACTOME)
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    • Sema4D induced cell migration and growth-cone collapse, organism-specific biosystem (from REACTOME)
      Sema4D induced cell migration and growth-cone collapse, organism-specific biosystemSema4D-mediated attraction of endothelial cells requires Rho, but not R-Ras, signaling. Sema4D-mediated plexinB1 activation activates Rho and its downstream effector ROCK. ROCK then phosphorylates ML...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection assembly IEA
    Inferred from Electronic Annotation
    more info
     
    chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    lymphocyte aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neutrophil chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of hydrogen peroxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of mast cell chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neutrophil migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of respiratory burst IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    ras-related C3 botulinum toxin substrate 2
    Names
    Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)
    ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
    small G protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007288.1 RefSeqGene

      Range
      4967..24005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_97

    mRNA and Protein(s)

    1. NM_002872.4NP_002863.1  ras-related C3 botulinum toxin substrate 2

      See identical proteins and their annotated locations for NP_002863.1

      Status: REVIEWED

      Source sequence(s)
      AF077208, BC001485, BI908751, BQ934070, Z82188
      Consensus CDS
      CCDS13945.1
      UniProtKB/Swiss-Prot
      P15153
      UniProtKB/TrEMBL
      A0A024R1P2, V9H0H7
      Related
      ENSP00000249071.6, OTTHUMP00000197775, ENST00000249071.10, OTTHUMT00000318812
      Conserved Domains (1) summary
      cd01871
      Location:3176
      Rac1_like; Ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)-like consists of Rac1, Rac2 and Rac3

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      37225261..37244299 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724286.3XP_006724349.1  ras-related C3 botulinum toxin substrate 2 isoform X1

      Conserved Domains (2) summary
      TIGR00231
      Location:4151
      small_GTP; small GTP-binding protein domain
      cl21455
      Location:3149
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      37580533..37599298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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