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 associ... See more...

Aliases for RAC2 Gene

Aliases for RAC2 Gene

  • Rac Family Small GTPase 2 2 3 5
  • Ras-Related C3 Botulinum Toxin Substrate 2 (Rho Family, Small GTP Binding Protein Rac2) 2 3
  • Ras-Related C3 Botulinum Toxin Substrate 2 3 4
  • Small G Protein 3 4
  • P21-Rac2 3 4
  • EN-7 2 3
  • Ras-Related C3 Botulinum Toxin Substrate 3 (Rho Family, Small GTP-Binding Protein Rac2) 3
  • HSPC022 3
  • RAC2 5
  • Gx 3
  • GX 4

External Ids for RAC2 Gene

Previous GeneCards Identifiers for RAC2 Gene

  • GC22M034235
  • GC22M035864
  • GC22M035945
  • GC22M037621
  • GC22M020586

Summaries for RAC2 Gene

Entrez Gene Summary for RAC2 Gene

  • 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]

GeneCards Summary for RAC2 Gene

RAC2 (Rac Family Small GTPase 2) is a Protein Coding gene. Diseases associated with RAC2 include Neutrophil Immunodeficiency Syndrome and Lymphopenia. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and NGF Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAC1.

UniProtKB/Swiss-Prot Summary for RAC2 Gene

  • Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase.

Tocris Summary for RAC2 Gene

  • Small G proteins (small GTPases) are homologous to Galpha proteins and are often referred to as the Ras proto-oncogene superfamily. Small GTPases regulate a wide variety of processes in the cell, including growth, differentiation, movement and lipid vesicle transport.

Gene Wiki entry for RAC2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAC2 Gene

Genomics for RAC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J037227 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 617.6 +7.7 7741 18.7 SP1 LEF1 KDM1A POLR2A BACH1 JUND LARP7 DDX20 ZNF143 MTA2 RAC2 CYTH4 GGA1 CSF2RB SSTR3 C1QTNF6 NCF4 SH3BP1 ENSG00000226233 MFNG
GH22J037281 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 -39.3 -39327 4.4 CTCF IKZF1 ETV6 LARP7 TCF12 IKZF2 POLR2A ZNF24 TRIM22 EED CYTH4 lnc-KCTD17-3 CSF2RB GGA1 NCF4 RAC2 LGALS2 SH3BP1 RPS15AP38 MFNG
GH22J036911 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7 +330.2 330175 5.1 ETV6 ZSCAN4 ZNF24 IKZF2 EED POLR2A RUNX3 TCF12 ELF1 USF2 CSF2RB NCF4 CYTH4 NCF4-AS1 RAC2 MPST piR-50437-440 TEX33
GH22J037672 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.7 -431.2 -431164 6.8 SP1 HNRNPL GATAD2A ZBTB33 PRDM10 ZNF629 LEF1 IKZF1 KDM1A ZNF692 LGALS1 lnc-LGALS2-5 piR-61945-332 NOL12 GGA1 SH3BP1 PDXP-DT DDX17 H1-0 GCAT
GH22J037217 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 5.5 +22.8 22835 8.7 SP1 ATF7 PRDM10 POLR2A ZNF143 RELA ZIC2 SMAD5 RAD21 TCF12 SSTR3 piR-33614-191 ENSG00000226233 C1QTNF6 RAC2 lnc-SSTR3-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAC2

Top Transcription factor binding sites by QIAGEN in the RAC2 gene promoter:
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • FAC1
  • Hand1
  • STAT3

Genomic Locations for RAC2 Gene

Genomic Locations for RAC2 Gene
chr22:37,225,270-37,244,448
(GRCh38/hg38)
Size:
19,179 bases
Orientation:
Minus strand
chr22:37,621,301-37,640,488
(GRCh37/hg19)
Size:
19,188 bases
Orientation:
Minus strand

Genomic View for RAC2 Gene

Genes around RAC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAC2 Gene

Proteins for RAC2 Gene

  • Protein details for RAC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15153-RAC2_HUMAN
    Recommended name:
    Ras-related C3 botulinum toxin substrate 2
    Protein Accession:
    P15153
    Secondary Accessions:
    • Q9UDJ4

    Protein attributes for RAC2 Gene

    Size:
    192 amino acids
    Molecular mass:
    21429 Da
    Quaternary structure:
    • Interacts with DOCK2, which may activate it. Interacts with S100A8 and calprotectin (S100A8/9) (PubMed:10559471, PubMed:15642721). Found in a complex with SH3RF1, MAP3K7/TAK1, MAP2K7/MKK7, MAPK8IP1/JIP1, MAPK8/JNK1 and MAPK9/JNK2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for RAC2 Gene

neXtProt entry for RAC2 Gene

Post-translational modifications for RAC2 Gene

  • (Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rac and leads to actin disassembly.
  • Glycosylation at Tyr32
  • Ubiquitination at Lys133, Lys147, and Lys153
  • Modification sites at PhosphoSitePlus

Other Protein References for RAC2 Gene

No data available for DME Specific Peptides for RAC2 Gene

Domains & Families for RAC2 Gene

Gene Families for RAC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAC2 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
  • Ras small GTPase, Rho type
ProtoNet:

Suggested Antigen Peptide Sequences for RAC2 Gene

GenScript: Design optimal peptide antigens:
  • p21-Rac2 (RAC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P15153

UniProtKB/Swiss-Prot:

RAC2_HUMAN :
  • Belongs to the small GTPase superfamily. Rho family.
Family:
  • Belongs to the small GTPase superfamily. Rho family.
genes like me logo Genes that share domains with RAC2: view

Function for RAC2 Gene

Molecular function for RAC2 Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.
GENATLAS Biochemistry:
ras-related C3 botulinism toxin substrate 2,Ras-like protein,member of the Rho family of GTPase,specifically expressed in hemopoietic lineage,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,key downstream target in Ras signaling putatively mediated by EPS58 and SSH3BP1

Phenotypes From GWAS Catalog for RAC2 Gene

Gene Ontology (GO) - Molecular Function for RAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 22106281
GO:0005525 GTP binding IEA,IMP 19625648
GO:0019887 protein kinase regulator activity IEA --
genes like me logo Genes that share ontologies with RAC2: view
genes like me logo Genes that share phenotypes with RAC2: view

Human Phenotype Ontology for RAC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAC2 Gene

MGI Knock Outs for RAC2:
  • Rac2 Rac2<tm1Mddw>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAC2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAC2 Gene

Localization for RAC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAC2 Gene

Cytoplasm. Note=Membrane-associated when activated.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAC2 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 4
cytoskeleton 4
nucleus 4
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
genes like me logo Genes that share ontologies with RAC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAC2 Gene

Pathways & Interactions for RAC2 Gene

PathCards logo

SuperPathways for RAC2 Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.62
.59
.58
2 fMLP Pathway
.44
.43
.39
.31
3 Integrin Pathway
.67
.67
.56
.38
4 TCR Signaling (Qiagen)
.68
.68
.54
.49
5 Focal Adhesion
genes like me logo Genes that share pathways with RAC2: view

Pathways by source for RAC2 Gene

4 GeneGo (Thomson Reuters) pathways for RAC2 Gene
  • G-protein signaling_Rac2 regulation pathway
  • Immune response CCR3 signaling in eosinophils
  • Inhibitory action of Lipoxins on neutrophil migration
  • Inhibitory action of Lipoxins on Superoxide production in neutrophils
1 R&D Systems pathway for RAC2 Gene
51 Qiagen pathways for RAC2 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Agrin Interactions at Neuromuscular Junction
2 Cell Signaling Technology pathways for RAC2 Gene

SIGNOR curated interactions for RAC2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for RAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis IEA --
GO:0007015 actin filament organization IBA,IMP 21167572
GO:0007163 establishment or maintenance of cell polarity IBA --
GO:0007165 signal transduction TAS 2674130
GO:0007186 G protein-coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with RAC2: view

Drugs & Compounds for RAC2 Gene

(14) Drugs for RAC2 Gene - From: DrugBank, PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dextromethorphan Approved Pharma Target, inhibitor 166
Idarubicin Approved Pharma 258
NADPH Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0

(11) Additional Compounds for RAC2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Rac1 Inhibitor F56, control peptide
1315378-77-8
Rac1 Inhibitor W56
1095179-01-3
SecinH3
853625-60-2

(5) Tocris Compounds for RAC2 Gene

Compound Action Cas Number
NSC 23766 Selective inhibitor of Rac1-GEF interaction; antioncogenic 1177865-17-6
QS 11 ARFGAP1 inhibitor; modulates Wnt/beta-catenin signaling 944328-88-5
Rac1 Inhibitor F56, control peptide Control peptide version of Rac1 Inhibitor W56 (Cat. No. 2221) 1315378-77-8
Rac1 Inhibitor W56 Selective inhibitor of Rac1-GEF interaction 1095179-01-3
SecinH3 Sec7-specific GEF inhibitor (cytohesins) 853625-60-2
genes like me logo Genes that share compounds with RAC2: view

Transcripts for RAC2 Gene

mRNA/cDNA for RAC2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAC2

Alternative Splicing Database (ASD) splice patterns (SP) for RAC2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for RAC2 Gene

GeneLoc Exon Structure for
RAC2

Expression for RAC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAC2 Gene

This gene is overexpressed in Whole Blood (x32.9) and Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for RAC2 Gene

This gene is overexpressed in Tlymphocyte (12.0), NK cells (11.4), Neutrophil (7.9), and Monocytes (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAC2 Gene



Protein tissue co-expression partners for RAC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAC2

SOURCE GeneReport for Unigene cluster for RAC2 Gene:

Hs.517601

mRNA Expression by UniProt/SwissProt for RAC2 Gene:

P15153-RAC2_HUMAN
Tissue specificity: Hematopoietic specific.

Evidence on tissue expression from TISSUES for RAC2 Gene

  • Blood(4.8)
  • Nervous system(4.6)
  • Intestine(3.7)
  • Bone marrow(3.4)
  • Lymph node(3.4)
  • Spleen(3.3)
  • Heart(2.8)
  • Lung(2.8)
  • Pancreas(2.8)
  • Skin(2.8)
  • Kidney(2.7)
  • Muscle(2.7)
  • Stomach(2.6)
  • Liver(2.6)
  • Eye(2.3)
  • Adrenal gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAC2 Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
  • lymphatic
Regions:
General:
  • blood
  • bone marrow
  • white blood cell
genes like me logo Genes that share expression patterns with RAC2: view

Orthologs for RAC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAC2 Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
Mammalia RAC2 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RAC2 30 31
  • 92.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAC2 30 31
  • 90.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rac2 30
  • 90.1 (n)
Mouse
(Mus musculus)
Mammalia Rac2 30 17 31
  • 89.24 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAC2 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAC2 30 31
  • 83.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAC2 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rac2 30
  • 77.78 (n)
Str.15383 30
Zebrafish
(Danio rerio)
Actinopterygii rac2 30 31
  • 79.17 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rac1 31 32
  • 89 (a)
ManyToMany
Rac2 31 32
  • 88 (a)
ManyToMany
Mtl 31 32
  • 66 (a)
ManyToMany
RhoL 32
  • 51 (a)
Worm
(Caenorhabditis elegans)
Secernentea ced-10 32
  • 95 (a)
rac-2 31
  • 72 (a)
ManyToMany
mig-2 32
  • 62 (a)
Y32F6B.3 32
  • 44 (a)
F22E12.2 32
  • 44 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RAC10 30
  • 58.38 (n)
Soybean
(Glycine max)
eudicotyledons Gma.1324 30
Rice
(Oryza sativa)
Liliopsida Os06g0234200 30
  • 61.47 (n)
Os.5505 30
Barley
(Hordeum vulgare)
Liliopsida Hv.12745 30
Wheat
(Triticum aestivum)
Liliopsida Ta.7476 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU02160 30
  • 70.37 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2693 30
Species where no ortholog for RAC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RAC2 Gene

ENSEMBL:
Gene Tree for RAC2 (if available)
TreeFam:
Gene Tree for RAC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAC2: view image

Paralogs for RAC2 Gene

(52) SIMAP similar genes for RAC2 Gene using alignment to 5 proteins:

  • RAC2_HUMAN
  • B1AH77_HUMAN
  • B1AH78_HUMAN
  • B1AH79_HUMAN
  • B1AH80_HUMAN
genes like me logo Genes that share paralogs with RAC2: view

Variants for RAC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAC2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
638470 Uncertain Significance: Neutrophil immunodeficiency syndrome 37,232,926(-) G/C INTRON_VARIANT
647415 Uncertain Significance: Neutrophil immunodeficiency syndrome 37,231,939(-) C/T MISSENSE_VARIANT
647647 Uncertain Significance: Neutrophil immunodeficiency syndrome 37,226,704(-) C/T MISSENSE_VARIANT
649161 Uncertain Significance: Neutrophil immunodeficiency syndrome 37,226,806(-) G/A INTRON_VARIANT
657624 Uncertain Significance: Neutrophil immunodeficiency syndrome 37,244,117(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAC2 Gene

Variant ID Type Subtype PubMed ID
esv1002006 CNV loss 20482838
esv2724208 CNV deletion 23290073
nsv1126630 CNV deletion 24896259
nsv459883 CNV loss 19166990
nsv513590 CNV insertion 21212237
nsv528767 CNV gain 19592680
nsv588987 CNV loss 21841781
nsv829203 CNV loss 20364138
nsv834188 CNV loss 17160897

Variation tolerance for RAC2 Gene

Residual Variation Intolerance Score: 34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAC2 Gene

Human Gene Mutation Database (HGMD)
RAC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAC2 Gene

Disorders for RAC2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for RAC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neutrophil immunodeficiency syndrome
  • neuid
lymphopenia
  • lymphocytopenia
immune deficiency disease
  • primary immunodeficiency disease
combined t cell and b cell immunodeficiency
  • combined immunodeficiency
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search RAC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAC2_HUMAN
  • Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203]: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing. {ECO:0000269 PubMed:10758162}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RAC2: view

No data available for Genatlas for RAC2 Gene

Publications for RAC2 Gene

  1. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. (PMID: 10758162) Ambruso DR … Roos D (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 23 41
  2. Regulation of the human neutrophil NADPH oxidase by rho-related G-proteins. (PMID: 8504089) Kwong CH … Leto TL (Biochemistry 1993) 3 4 23
  3. Carboxyl-terminal isoprenylation of ras-related GTP-binding proteins encoded by rac1, rac2, and ralA. (PMID: 1903399) Kinsella BT … Maltese WA (The Journal of biological chemistry 1991) 3 4 23
  4. rac, a novel ras-related family of proteins that are botulinum toxin substrates. (PMID: 2674130) Didsbury J … Snyderman R (The Journal of biological chemistry 1989) 2 3 4
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41

Products for RAC2 Gene

Sources for RAC2 Gene