DefinitionThis section has been translated automatically.
ADGRE2 stands for the acronym "Adhesion G Protein-Coupled Receptor E2" located on chromosome 19p13.12.
General informationThis section has been translated automatically.
The ADGRE2 gene encodes ADGRE2, a protein that is expressed on the surface of granulocyte cells and influences cell-cell adhesion and degranulation of myeloid cells by interacting with chondoitin sulfate chains. In macrophages ADGRE2 controls the release of the cytokines IL-8 and TNF-alpha.
A missense mutation of the ADGRE2 gene was detected in patients with rare familial (autosomal dominant) vibratory urticaria. This results in an exchange of cysteine for tyrosine. The defective protein causes autocatalytic degradation of the ADGRE2 receptor. This results in the formation of an extracellular subunit of the receptor which binds non-covalently to another transmembrane contact site. The result is a mast cell instability that degrades in a vibration-dependent manner with edema formation in cutis and subcutis.
LiteratureThis section has been translated automatically.
- Boyden SE et al (2016) Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med 374:656-663.
- Kaplan AP et al (2016) Vibratory Urticaria and ADGRE2. N Engl J Med 375):94-95.