Summary of RAC2
The gene codes for a protein, ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2). Mutations are linked to neutrophil immunodeficiency syndrome. A pseudogene is on chromosome 6 [R].
The Function of RAC2
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.
Protein names
Recommended name:
Ras-related C3 botulinum toxin substrate 2Short name:
GXAlternative name(s):
Small G proteinp21-Rac2
- RS13058338 (RAC2) ??
- RS2239774 (RAC2) ??
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Top Gene-Substance Interactions
RAC2 Interacts with These Diseases
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Substances That Increase RAC2
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Substances That Decrease RAC2
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Advanced Summary
From NCBI Gene: Neutrophil immunodeficiency syndromeFrom UniProt: Neutrophil immunodeficiency syndrome (NEUID): An immunodeficiency syndrome due to defective neutrophils. Affected individuals present with leukocytosis, neutrophilia, severe recurrent bacterial infections and poor wound healing. [MIM:608203]
From NCBI Gene: 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. [provided by RefSeq, Jul 2013] From UniProt: 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 .
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Hematopoietic specific.
Gene Pathways:
- MAPK signaling pathway
- Pathways in cancer
- Regulation of actin cytoskeleton
- Signal Transduction
- Wnt signaling pathway
- Hemostasis
- Natural killer cell mediated cytotoxicity
- Adherens junction
- Colorectal cancer
- Leukocyte transendothelial migration
- Axon guidance
- Chemokine signaling pathway
- B cell receptor signaling pathway
- Pancreatic cancer
- Phagosome
- VEGF signaling pathway
- Fc epsilon RI signaling pathway
- Viral myocarditis
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.
Molecular Function:
Biological Processes:
- Actin Filament Organization
- Bone Resorption
- Cell Projection Assembly
- Chemotaxis
- G-Protein Coupled Receptor Signaling Pathway
- Lymphocyte Aggregation
- Platelet Activation
- Positive Regulation Of Cell Proliferation
- Positive Regulation Of Lamellipodium Assembly
- Positive Regulation Of Neutrophil Chemotaxis
- Positive Regulation Of Protein Targeting To Mitochondrion
- Regulation Of Cell-Substrate Adhesion
- Regulation Of Hydrogen Peroxide Metabolic Process
- Regulation Of Mast Cell Chemotaxis
- Regulation Of Mast Cell Degranulation
- Regulation Of Neutrophil Migration
- Regulation Of Respiratory Burst
- Regulation Of Small Gtpase Mediated Signal Transduction
- Regulation Of T Cell Proliferation
- Signal Transduction
- Small Gtpase Mediated Signal Transduction