Alt. symbols: EMR2 | CD312

Approved name: adhesion G protein-coupled receptor E2
Alt. names: egf-like module containing, mucin-like, hormone receptor-like sequence 2, egf-like module containing, mucin-like, hormone receptor-like 2

Location: 19p13.12: 14732392 - 14778560 (-)
Gene type: protein_coding, 13 transcripts.

Scores: LoFtool: 0.011000 | pLI: 0.00000000 | LOEUF: 1.253

HGNC: 3337

NCBI: 30817, RefSeq: NG_047146.1

Ensembl: ENSG00000127507.18

LRG_ | Status: none

OMIM: 606100

Expression | ProteinAtlas

ADGRE2 encodes the adhesion G protein-coupled receptor E2, also known as EMR2, which is a cell surface receptor expressed by monocytes/macrophages, dendritic cells and granulocytes. ADGRE2 promotes cell-cell adhesion through interaction with its ligand chondroitin sulfate B. Additionally, ADGRE2 has a role in potentiating inflammatory responses by promoting the release of inflammatory cytokines through macrophages, including IL8 and TNF.

ADGRE2 is associated with autosomal dominant vibratory urticaria [MIM:125630], a condition characterized with local hives (urticaria), swelling, redness and itching of the skin, if exposed to vibration, repetitive stretching or friction. The phenotype is described as an exaggeration of a normal cellular response to dermal vibration. Up to date, one gain of function mutation in ADGRE2, p.Cys492Tyr, is known to cause the disease and functional assessment of this variant has shown that it leads to hypersensitized mast cells resulting in vibration-induced excessive degranulation of the cells. Another potential connection of ADGRE2 to disease was brought by a study of Aust et al. in 2003, in which different ADGRE2 splice variants were detected in colorectal carcinoma cell lines and adenocarcinomas at the mRNA level. However, the protein was only rarely expressed in those cells and expression did not correlate with in vitro migration or invasion capacity of the cells, questioning ADGRE2’s clinical significance in those tumors. [Load More]