RAC2
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.
Involvement in disease
Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis
IMD73A
An autosomal dominant immunologic disorder characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, invasive infections, and poor wound healing.
None
The disease is caused by variants affecting the gene represented in this entry.
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
IMD73B
An autosomal dominant immunologic disorder characterized by respiratory infections, cellulitis, severe invasive infections, B- and T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset is in infancy or early childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
IMD73C
An autosomal recessive immunologic disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis. Variable features are urticaria, recurrent erythematous plaques, food allergy, arthralgia, bronchiectasis, and lymphadenopathy. In addition, patients suffer from glomerulonephritis, coagulopathy, multiple hormone deficiencies, and abnormalities of neutrophil granules.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
(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.
Sequence Similarities
Belongs to the small GTPase superfamily. Rho family.
Tissue Specificity
Hematopoietic specific.
Cellular localization
- Cytoplasm
- Membrane-associated when activated.
Alternative names
Ras-related C3 botulinum toxin substrate 2, GX, Small G protein, p21-Rac2, RAC2