RAC2 Chromosome 22
Rac family small GTPase 2
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What This Gene Does
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]
Gene Info
Gene Group
"Rho family GTPases|Receptor ligands"
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000128340
Associated Conditions (4)
Neutrophil immunodeficiency syndrome
Inborn genetic diseases
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Key Variants
RS141308774
Conflicting classifications of pathogenicity
Neutrophil immunodeficiency syndrome, Inborn genetic diseases, Neutrophil immunodeficiency syndrome
Health Risk
RS758461304
Conflicting classifications of pathogenicity
Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome
Health Risk
RS1927110683
Likely pathogenic
Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome
Health Risk
RS1927393826
Likely pathogenic
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Neutrophil immunodeficiency syndrome, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Health Risk
RS1927078072
Pathogenic
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Health Risk
RS2145824966
Pathogenic
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Health Risk
RS74315507
Pathogenic
Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome
Health Risk
RS1555908409
Pathogenic/Likely pathogenic
Neutrophil immunodeficiency syndrome, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141308774 | Health Risk | Conflicting classifications of pathogenicity | Neutrophil immunodeficiency syndrome, Inborn genetic diseases, Neutrophil immunodeficiency syndrome |
| RS758461304 | Health Risk | Conflicting classifications of pathogenicity | Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome |
| RS1927110683 | Health Risk | Likely pathogenic | Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome |
| RS1927393826 | Health Risk | Likely pathogenic | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Neutrophil immunodeficiency syndrome, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia |
| RS1927078072 | Health Risk | Pathogenic | Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia |
| RS2145824966 | Health Risk | Pathogenic | Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |
| RS74315507 | Health Risk | Pathogenic | Neutrophil immunodeficiency syndrome, Neutrophil immunodeficiency syndrome |
| RS1555908409 | Health Risk | Pathogenic/Likely pathogenic | Neutrophil immunodeficiency syndrome, Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia, Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia |