Gene: ADGRE2

Alternate names for this Gene: CD312|CD97|EMR2|VBU

Gene Summary: This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.12

Description of this Gene: adhesion G protein-coupled receptor E2

Type of Gene: protein-coding

rs57712673 in ADGRE2 gene and Androstenedione measurement PMID 28429243 2017 SLCO1B1 polymorphisms and plasma estrone conjugates in postmenopausal women with ER+ breast cancer: genome-wide association studies of the estrone pathway.

rs112610420 in ADGRE2 gene and Major Depressive Disorder PMID 27777418 2017 The PHF21B gene is associated with major depression and modulates the stress response.

rs199718602 in ADGRE2 gene and Vibratory urticaria PMID 26841242 2016 Vibratory Urticaria Associated with a Missense Variant in ADGRE2.