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MGP002560

UniProt Annotations

Entry Information

Gene Name	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
Protein Entry	RAC2_HUMAN
UniProt ID	P15153
Species	Human

Comments

Comment type	Description
Disease	Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203]: An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing. {ECO:0000269\|PubMed:10758162}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.
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. {ECO:0000269\|PubMed:1660188}.
Similarity	Belongs to the small GTPase superfamily. Rho family. {ECO:0000305}.
Subcellular Location	Cytoplasm. Note=Membrane-associated when activated.
Subunit	Interacts with DOCK2, which may activate it. Interacts with S100A8 and calprotectin (S100A8/9). {ECO:0000269\|PubMed:10559471, ECO:0000269\|PubMed:15642721}.
Tissue Specificity	Hematopoietic specific.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAC2ID42021ch22q13.html";
Web Resource	Name=RAC2base; Note=RAC2 mutation db; URL="http://structure.bmc.lu.se/idbase/RAC2base/";