RAC2

Chr 22

Rac family small GTPase 2

Also known as: EN-7, Gx, HSPC022, IMD73A, IMD73B, IMD73C, p21-Rac2

NCBI Gene: 5880ENSG00000128340UniProt: P15153

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis
UniProtImmunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
UniProtImmunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia · ARModerateconsider for supplementary testing3 gene-disease associations curated in total
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
72
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.28
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
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GeneReview available — RAC2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.28LOEUF
pLI 0.966
Z-score 3.01
OE 0.00 (0.00–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.59Z-score
OE missense 0.34 (0.27–0.44)
42 obs / 122.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.28)
0≤0.351.4
Missense OE?0.34 (0.27–0.44)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 0 / 10.5Missense obs/exp: 42 / 122.8Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RAC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients