HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RAC2
Rac family small GTPase 2
Chromosome 22 Β· 22q13.1
NCBI Gene: 5880Ensembl: ENSG00000128340.17HGNC: HGNC:9802UniProt: P15153
169PubMed Papers
23Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
NADPH oxidase complexprotein bindingpositive regulation of protein localization to mitochondrionsuperoxide anion generationneutrophil immunodeficiency syndromeimmunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaimmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaT-B- severe combined immunodeficiency
✦AI Summary

RAC2 is a hematopoietic-specific small GTPase that cycles between active GTP-bound and inactive GDP-bound states to regulate critical immune cell functions 1. As a key component of the phagocyte NADPH oxidase complex, RAC2 mediates superoxide anion production essential for antimicrobial defense 2. The protein controls actin cytoskeleton dynamics, enabling proper neutrophil chemotaxis, cell migration, and phagocytic responses 3. RAC2 mutations cause a spectrum of primary immunodeficiencies depending on their functional impact: constitutively active mutations lead to neonatal severe combined immunodeficiency (SCID), dominant-negative mutations cause leukocyte adhesion deficiency-like disease with defective neutrophil function, while dominant-activating mutations result in combined immunodeficiency with recurrent infections 3. The hyperactivating RAC2E62K mutation paradoxically enhances macrophage-mediated cell cannibalism, contributing to immunodeficiency through aberrant immune cell interactions 4. Functionally, RAC2-deficient neutrophils exhibit impaired chemotaxis, reduced superoxide production, and abnormal cell survival, defining RAC2 as essential for normal myeloid cell function and establishing RAC2 deficiency as a distinct genetic immunodeficiency syndrome 25.

Sources cited
1
RAC2 is exclusively expressed in hematopoietic cells and causes different forms of primary immunodeficiencies
PMID: 32542921
2
RAC2 is a component of NADPH oxidase complex and its deficiency causes neutrophil dysfunction with impaired chemotaxis and superoxide production
PMID: 12468931
3
RAC2 mutations cause a spectrum of immunodeficiencies from SCID to combined immunodeficiency depending on protein activity levels
PMID: 38194689
4
Hyperactive RAC2E62K mutation enhances macrophage cannibalism and contributes to immunodeficiency
PMID: 38109551
5
RAC2 expression is restricted to hematopoietic cells and mutations cause immunodeficiency diseases
PMID: 23850828
Disease Associationsβ“˜23
neutrophil immunodeficiency syndromeOpen Targets
0.73Strong
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaOpen Targets
0.69Moderate
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
0.59Moderate
T-B- severe combined immunodeficiencyOpen Targets
0.53Moderate
T-B+ severe combined immunodeficiencyOpen Targets
0.53Moderate
T+ B+ severe combined immunodeficiencyOpen Targets
0.53Moderate
reticular dysgenesisOpen Targets
0.48Moderate
urticariaOpen Targets
0.46Moderate
acute proliferative glomerulonephritisOpen Targets
0.46Moderate
cancerOpen Targets
0.39Weak
diabetes mellitusOpen Targets
0.30Weak
genetic disorderOpen Targets
0.18Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
nonpapillary renal cell carcinomaOpen Targets
0.09Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.09Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.08Suggestive
combined immunodeficiency due to CTPS1 deficiencyOpen Targets
0.08Suggestive
isolated agammaglobulinemiaOpen Targets
0.08Suggestive
Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosisUniProt
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopeniaUniProt
Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemiaUniProt
Pathogenic Variants7
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)Pathogenic
Neutrophil immunodeficiency syndrome|not provided|Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia|Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia;Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia;Neutrophil immunodeficiency syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 62
NM_002872.5(RAC2):c.86C>A (p.Pro29His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 29
NM_002872.5(RAC2):c.101C>A (p.Pro34His)Likely pathogenic
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia|Neutrophil immunodeficiency syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 34
NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)Likely pathogenic
Neutrophil immunodeficiency syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 61
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn)Pathogenic
Neutrophil immunodeficiency syndrome
β˜…β˜†β˜†β˜†2020β†’ Residue 57
NM_002872.5(RAC2):c.167G>A (p.Trp56Ter)Pathogenic
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
β˜†β˜†β˜†β˜†2020β†’ Residue 56
NM_002872.5(RAC2):c.275A>C (p.Asn92Thr)Pathogenic
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
β˜†β˜†β˜†β˜†2020β†’ Residue 92
View on ClinVar β†—
Related Genes
MAPK3Protein interaction99%DOCK2Protein interaction99%IQGAP1Protein interaction99%NOXO1Protein interaction99%VAV1Protein interaction98%ELMO1Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
73%
Liver
10%
Ovary
4%
Heart
4%
Brain
3%
Gene Interaction Network
Click a node to explore
RAC2MAPK3DOCK2IQGAP1NOXO1VAV1ELMO1
PROTEIN STRUCTURE
Preparing viewer…
PDB2W2T Β· 1.95 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.20]
RankingsWhere RAC2 stands among ~20K protein-coding genes
  • #2,632of 20,598
    Most Researched169 Β· top quartile
  • #3,165of 5,498
    Most Pathogenic Variants7
  • #432of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedRAC2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
RAC2 and primary human immune deficiencies.
PMID: 32542921
J Leukoc Biol Β· 2020
1.00
2
Hyperactive Rac stimulates cannibalism of living target cells and enhances CAR-M-mediated cancer cell killing.
PMID: 38109551
Proc Natl Acad Sci U S A Β· 2023
0.90
3
BTK drives neutrophil activation for sterilizing antifungal immunity.
PMID: 38696257
J Clin Invest Β· 2024
0.84
4
Integrated Bioinformatic Analysis of the Shared Molecular Mechanisms Between Osteoporosis and Atherosclerosis.
PMID: 35937806
Front Endocrinol (Lausanne) Β· 2022
0.80
5
Gadd45g insufficiency drives the pathogenesis of myeloproliferative neoplasms.
PMID: 38582902
Nat Commun Β· 2024
0.72