RAC2 Gene

RAC2 (RAC2 stands for "Rac Family Small GTPase 2") is a protein-coding gene located on chromosome 22q13.1. The RAC2 gene encodes a member of the Ras superfamily of small proteins that process guanosine triphosphate (GTP).

The protein encoded by the RAC2 gene, plasma membrane-associated small GTPase 2, alternates between an active, GTP-bound state and an inactive, GDP-bound state. In the active state, it binds to a variety of effector proteins to regulate cellular responses (Ueyama T 2019). Thus, secretory processes, phagocytosis of apoptotic cells, and polarization of epithelial cells. Small GTPase 2 enhances reactive oxygen species (ROS) production by NADPH oxidase.

Diseases associated with RAC2 include:

• Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis (IMD73A; OMIM: 608203) (Accetta D et al 2011; Ambruso DR et al 2000). Causative de novo mutations were.
• And
• Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia (IMD73C; OMIM: 618987).

1. Accetta D et al. (2011) Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. (Letter) J Allergy Clin Immun 127: 535-538.
2. Ambruso DR et al (2000) Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Nat Acad Sci 97: 4654-4659.
3. Lougaris V et al (2020) RAC2 and primary human immune deficiencies. J Leukoc Biol 108: 687-696.
4. Roos D et al. (2021) Hematologically important mutations: the autosomal forms of chronic granulomatous disease (third update). Blood Cells Molec Dis 92: 102596.
5. Ueyama T (2019) Rho-family small GTPases: from highly polarized sensory neurons to cancer cells. Cells 8:92.