RAC2 Gene: Rho Family GTPase 2
Key regulator of immune cell signaling and cytoskeletal dynamics
Gene Information Card
| Symbol | RAC2 |
|---|---|
| Full Name | Rac family small GTPase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 5880 ncbi.nlm.nih.gov/gene/5880 |
| Ensembl ID | ENSG00000128340 |
| UniProt ID | P15153 |
| OMIM ID | 602049 |
| HGNC ID | 9802 |
| Aliases | Gx, p21-Rac2, EN-7 |
Description
RAC2 encodes a small GTPase of the Rho family, which cycles between an active GTP-bound and inactive GDP-bound state. It is predominantly expressed in hematopoietic cells and regulates actin cytoskeleton reorganization, superoxide production, cell migration, and phagocytosis. RAC2 is critical for neutrophil and lymphocyte function, and mutations lead to immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neutrophil immunodeficiency syndrome | Loss-of-function mutations impair actin polymerization and chemotaxis | OMIM #608203 |
| RAC2 gain-of-function syndrome | Activating mutations cause enhanced GTP binding, leading to combined immunodeficiency and autoinflammation | ClinVar, PMID: 31564472 |
| Chronic granulomatous disease-like disorder | Defective NADPH oxidase activity due to RAC2 dysfunction | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Spleen | 8.3 | Medium |
| Lung | 4.1 | Low |
| Whole blood | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (neutrophil-like) | 18.7 | High expression; used in differentiation studies |
| K-562 (leukemia) | 6.2 | Moderate expression |
| Jurkat (T-cell) | 9.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57Trp) | Missense | Rare | Gain-of-function; increased GTP binding |
| c.74G>A (p.Arg25Gln) | Missense | Rare | Loss-of-function; impaired activation |
| c.217C>T (p.Arg73Cys) | Missense | Rare | Dominant-negative; disrupts effector binding |
Mutation functional classification
Loss of Function (LOF)
Impaired GTP binding or hydrolysis, leading to defective cytoskeletal remodeling and immune cell migration.
Gain of Function (GOF)
Constitutive activation due to impaired GTP hydrolysis, resulting in hyperactive NADPH oxidase and autoinflammatory phenotypes.
Dominant Negative (DN)
Mutant protein sequesters upstream activators or downstream effectors, blocking normal RAC2 signaling.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity (GO:0003924) | • GTP binding (GO:0005525) |
| • Actin cytoskeleton organization (GO:0030036) | • NADPH oxidase activity (GO:0016174) |
| • Cell migration (GO:0016477) |
Pathways
• Fc gamma receptor-mediated phagocytosis (KEGG: hsa04666)
• Chemokine signaling pathway (KEGG: hsa04062)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
RAC2 is a 21 kDa small GTPase predominantly expressed in hematopoietic cells. It functions as a molecular switch, regulating actin dynamics, superoxide production via NADPH oxidase, and cell adhesion. Mutations in RAC2 cause primary immunodeficiencies, with loss-of-function leading to recurrent infections and gain-of-function causing lymphoproliferation and autoimmunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAC2 Knockout HEK293 Cell Line | EDJ-KQ743 | Human | 5880 | Details Get a Quote |
| RAC2 Knockout HeLa Cell Line | EDJ-KQ18220 | Human | 5880 | Details Get a Quote |
| RAC2 Knockout HCT 116 Cell Line | EDJ-KQ19381 | Human | 5880 | Details Get a Quote |
| RAC2 Knockout A-549 Cell Line | EDJ-KQ62782 | Human | 5880 | Details Get a Quote |
