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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
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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)

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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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