ADGRE2 Chromosome 19
Adhesion G protein-coupled receptor E2
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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
RS1005458732
Conflicting classifications of pathogenicity
Health Risk
RS1010286043
Conflicting classifications of pathogenicity
Health Risk
RS139418141
Conflicting classifications of pathogenicity
Health Risk
RS142343910
Conflicting classifications of pathogenicity
Health Risk
RS145425662
Conflicting classifications of pathogenicity
Health Risk
RS147387582
Conflicting classifications of pathogenicity
ADGRE2-related disorder, ADGRE2-related disorder
Health Risk
RS148074899
Conflicting classifications of pathogenicity
Autosomal dominant vibratory urticaria, Autosomal dominant vibratory urticaria
Health Risk
RS150972875
Conflicting classifications of pathogenicity
Health Risk
RS187229047
Conflicting classifications of pathogenicity
Autosomal dominant vibratory urticaria, Autosomal dominant vibratory urticaria
Health Risk
RS199718602
Conflicting classifications of pathogenicity
Vibratory urticaria, Vibratory urticaria
Health Risk
RS200295887
Conflicting classifications of pathogenicity
Health Risk
RS201617124
Conflicting classifications of pathogenicity
Health Risk
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 | — |