RAC2

Chr 22q13.1

Rac family small GTPase 2

Aliases:: EN-7
MANE:: ENST00000249071.11

OMIM: 602049 ↗NCBI: 5880 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RAC2 · P15153

v62025-08-01

Predicted Aligned Error matrix for RAC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

93.7/ 100

Very high

192 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)7%
Low(50–70)4%
Very low(< 50)3%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia
Cytopenias and congenital anaemias

Disease associations (Open Targets)

neutrophil immunodeficiency syndrome
0.72
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
0.69
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
0.59
T-B- severe combined immunodeficiency
0.53
T-B+ severe combined immunodeficiency
0.53
reticular dysgenesis
0.46
urticaria
0.46
acute proliferative glomerulonephritis
0.46
cancer
0.39
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ras-related C3 botulinum toxin substrate 2

Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state (PubMed:30723080). In its 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. Regulatory subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:1660188). Activates PLCG2 (PubMed:19394299)