RAC2 Rac family small GTPase 2
Gene ID: 5880, updated on 2-Nov-2024Gene type: protein coding
Also known as: Gx; EN-7; IMD73A; IMD73B; IMD73C; HSPC022; p21-Rac2
- See all available tests in GTR for this gene
- Go to complete Gene record for RAC2
- Go to Variation Viewer for RAC2 variants
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. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. GeneReviews: Not available | |
| Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | See labs |
| Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | See labs |
| Joint influence of small-effect genetic variants on human longevity. GeneReviews: Not available | |
| Neutrophil immunodeficiency syndrome | See labs |
| Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. GeneReviews: Not available |
Genomic context
- Location:
- 22q13.1
- Sequence:
- Chromosome: 22; NC_000022.11 (37225270..37244269, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RAC2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RAC2 database
- RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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