Gene: RAC2
Alternate names for this Gene: EN-7|Gx|HSPC022|IMD73A|IMD73B|IMD73C|p21-Rac2
Gene Summary: 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.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.1
Description of this Gene: Rac family small GTPase 2
Type of Gene: protein-coding
rs2284038 in
RAC2 gene and
Graves Disease
PMID 23612905 2013 Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
rs74315507 in
RAC2 gene and
Neutrophil Immunodeficiency Syndrome
PMID 11278678 2001 Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency.
PMID 21167572 2011 Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia.
PMID 14676277 2004 Rac2D57N, a dominant inhibitory Rac2 mutant that inhibits p38 kinase signaling and prevents surface ruffling in bone-marrow-derived macrophages.
PMID 10758162 2000 Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.
PMID 10961859 2000 Dominant negative mutation of the hematopoietic-specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency.