ADGRE2
Domain
The GPS region of the GAIN-B domain is necessary, but not sufficient for receptor cleavage, which require the entire extracellular stalk.
Binding to chondroitin sulfate is mediated by the fourth EGF domain.
Function
Cell surface receptor that binds to the chondroitin sulfate moiety of glycosaminoglycan chains and promotes cell attachment. Promotes granulocyte chemotaxis, degranulation and adhesion. In macrophages, promotes the release of inflammatory cytokines, including IL8 and TNF. Signals probably through G-proteins. Is a regulator of mast cell degranulation (PubMed:26841242).
Involvement in disease
Vibratory urticaria
VBU
An autosomal dominant disorder characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Autoproteolytically cleaved into 2 subunits, an extracellular alpha subunit and a seven-transmembrane beta subunit.
Sequence Similarities
Belongs to the G-protein coupled receptor 2 family. Adhesion G-protein coupled receptor (ADGR) subfamily.
Tissue Specificity
Expression is restricted to myeloid cells. Highest expression was found in peripheral blood leukocytes, followed by spleen and lymph nodes, with intermediate to low levels in thymus, bone marrow, fetal liver, placenta, and lung, and no expression in heart, brain, skeletal muscle, kidney, or pancreas. Expression is also detected in monocyte/macrophage and Jurkat cell lines but not in other cell lines tested. High expression in mast cells (PubMed:26841242).
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Cell projection
- Ruffle membrane
- Multi-pass membrane protein
- Localized at the leading edge of migrating cells.
Alternative names
CD312, EMR2, ADGRE2, Adhesion G protein-coupled receptor E2, EGF-like module receptor 2, EGF-like module-containing mucin-like hormone receptor-like 2