ADGRE2 Chromosome 19

Adhesion G protein-coupled receptor E2
28 variants 28 Health Risk

Upload your DNA to see your personal genotypes for variants in ADGRE2.

What This Gene Does
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. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
"CD molecules|Adhesion G protein-coupled receptors, subfamily E"
Locus Type
gene with protein product
Location
19p13.12
Ensembl
ENSG00000127507
Associated Conditions (3)
ADGRE2-related disorder
Autosomal dominant vibratory urticaria
Vibratory urticaria
Key Variants
All Variants (28)
RSID Category Clinical Significance Conditions
RS1005458732 Health Risk Conflicting classifications of pathogenicity —
RS1010286043 Health Risk Conflicting classifications of pathogenicity —
RS139418141 Health Risk Conflicting classifications of pathogenicity —
RS142343910 Health Risk Conflicting classifications of pathogenicity —
RS145425662 Health Risk Conflicting classifications of pathogenicity —
RS147387582 Health Risk Conflicting classifications of pathogenicity ADGRE2-related disorder, ADGRE2-related disorder
RS148074899 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vibratory urticaria, Autosomal dominant vibratory urticaria
RS150972875 Health Risk Conflicting classifications of pathogenicity —
RS187229047 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vibratory urticaria, Autosomal dominant vibratory urticaria
RS199718602 Health Risk Conflicting classifications of pathogenicity Vibratory urticaria, Vibratory urticaria
RS200295887 Health Risk Conflicting classifications of pathogenicity —
RS201617124 Health Risk Conflicting classifications of pathogenicity —
RS373190699 Health Risk Conflicting classifications of pathogenicity —
RS374432034 Health Risk Conflicting classifications of pathogenicity —
RS45563436 Health Risk Conflicting classifications of pathogenicity —
RS534741485 Health Risk Conflicting classifications of pathogenicity —
RS548759776 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vibratory urticaria, Autosomal dominant vibratory urticaria
RS61732003 Health Risk Conflicting classifications of pathogenicity —
RS747459594 Health Risk Conflicting classifications of pathogenicity —
RS750767967 Health Risk Conflicting classifications of pathogenicity —
RS751263352 Health Risk Conflicting classifications of pathogenicity —
RS757681429 Health Risk Conflicting classifications of pathogenicity —
RS759595432 Health Risk Conflicting classifications of pathogenicity Vibratory urticaria, Vibratory urticaria
RS770372103 Health Risk Conflicting classifications of pathogenicity —
RS770915022 Health Risk Conflicting classifications of pathogenicity —
RS771415140 Health Risk Conflicting classifications of pathogenicity —
RS772168079 Health Risk Conflicting classifications of pathogenicity Vibratory urticaria, Vibratory urticaria
RS781288814 Health Risk Conflicting classifications of pathogenicity —
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