Adgre2 gene

Synonym(s)

Adhesion G Protein-Coupled Receptor E2; CD312; CD312 antigen; CD97; CD97 Antigen; Egf-Like Module Containing, Mucin-Like 2, Hormones Receptor-Like 2; Egf-Like Module Containing, Mucin-Like 2, Hormones Receptor-Like Sequence 2; Egf-Like Module-Containing Mucin-Like Hormones Receptor-Like2; EGF-Like Module-Containing Mucin-Like Hormones Receptor-Like 2; EGF-Like Module Receptor; EGF-Like Module Receptor 2; EMR 2; Leukocyte antigen CD97; OMIM: 606100; VBU

Definition
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ADGRE2 stands for the acronym "Adhesion G Protein-Coupled Receptor E2" located on chromosome 19p13.12.

General information
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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 chondroitin sulphate chains. In macrophages, ADGRE2 controls the release of the cytokines IL-8 and TNF-alpha.

A missense mutation of the ADGRE2 gene has been detected in patients with the rare familial (autosomal dominant) vibrational urticaria. This results in a replacement of cysteine by tyrosine. The defective protein causes autocatalytic degradation of the ADGRE2 receptor. This results in an extracellular subunit of the receptor that binds non-covalently to another transmembrane contact site. The result is mast cell instability that degranulates in a vibration-dependent manner with pruritic edema formation in the cutis and subcutis.

Literature
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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.