RAC2 wt Allele

Preferred Label : RAC2 wt Allele;

NCIt synonyms : Gx; HSPC022; EN-7; p21-Rac2; Ras-Related C3 Botulinum Toxin Substrate 2 (Rho Family, Small GTP Binding Protein Rac2) Gene; IMD73A; IMD73B; IMD73C; Rho Family, Small GTP Binding Protein Rac2 Gene; Rac Family Small GTPase 2 wt Allele;

NCIt definition : Human RAC2 wild-type allele is located in the vicinity of 22q13.1 and is approximately 19 kb in length. This allele, which encodes Ras-related C3 botulinum toxin substrate 2 protein, plays a role in the modulation of reactive oxygen species generation by NADPH oxidase.;

NCI Metathesaurus CUI : CL1662236;

GenBank Accession Number : M64595;

Details

Origin ID

C179400;

UMLS CUI

C5551139;

Automatic exact mappings (from CISMeF team)
- Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis [OMIM Phenotype]
- Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia [OMIM Phenotype]
- Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia [OMIM Phenotype]
- Rac family small GTPase 2 [ORDO Gene]
- immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis [DO Concept]
- immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia [DO Concept]
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia [DO Concept]
OMIM relation
- Ras-related c3 botulinum toxin substrate 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q13.1 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- Adherens Junction Assembly Pathway [NCIt concept]
- Axon Guidance Pathway [NCIt concept]
- B Cell Receptor Signaling Pathway [NCIt concept]
- Chemokine Signaling Pathway [NCIt concept]
- Colorectal Cancer Pathway [NCIt concept]
- Fc Epsilon Receptor I Signaling Pathway KEGG [NCIt concept]
- Fc Gamma Receptor-Mediated Phagocytosis Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Leukocyte Transendothelial Migration Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Natural Killer Cell-Mediated Cytotoxicity Pathway [NCIt concept]
- Pancreatic Cancer Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
- VEGF Signaling Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
- Wnt Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Oxidative Burst [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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