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

    Gene ID: 5880, updated on 22-Aug-2021

    Summary

    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
    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; IMD73A; IMD73B; IMD73C; 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]
    Expression
    Biased expression in lymph node (RPKM 157.7), bone marrow (RPKM 130.6) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RAC2 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37225270..37244269, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37621310..37640309, 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 Neighboring gene Sharpr-MPRA regulatory region 14238

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    GeneReviews: Not available
    Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
    MedGen: C5436549 OMIM: 618986 GeneReviews: Not available
    Compare labs
    Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
    MedGen: C5436550 OMIM: 618987 GeneReviews: Not available
    Compare labs
    Joint influence of small-effect genetic variants on human longevity.
    GeneReviews: Not available
    Neutrophil immunodeficiency syndrome
    MedGen: C1842398 OMIM: 608203 GeneReviews: Not available
    Compare labs
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    GeneReviews: Not available

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein kinase regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in Rac protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell projection assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cortical cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in engulfment of apoptotic cell IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in establishment or maintenance of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lymphocyte aggregation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in motor neuron axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of lamellipodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neutrophil chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
    involved_in regulation of T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of cell-substrate adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of hydrogen peroxide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of mast cell chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mast cell degranulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neutrophil migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of neutrophil migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of respiratory burst IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cell projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_002872.5NP_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, ENST00000249071.11
      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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      37225270..37244269 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
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