Adhesion G Protein-Coupled Receptor E2

Alternative Names

  • ADGRE2
  • EGF-Like Module-Containing, Mucin-Like Hormone Receptor 2
  • EMR2

Associated Diseases

Vibratory Urticaria
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OMIM Number

606100

NCBI Gene ID

30817

Uniprot ID

Q9UHX3

Length

54,372 bases

No. of Exons

24

No. of isoforms

6

Protein Name

Adhesion G protein-coupled receptor E2

Molecular Mass

90472 Da

Amino Acid Count

823

Genomic Location

chr19:14,724,170-14,778,541

Gene Map Locus
19p13.12

Description

The ADGRE2 gene belongs to the class B seven-span transmembrane family of G-protein coupled receptors. The protein coded for by this gene is predominantly found in immune cells, especially the mast cells. The protein is supposed to play a role in the immune system, especially in allergic reactions. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_013447.3:c.1475G>ALebanonchr19:14755069 (GRCh38.p12)PathogenicPathogenicVibratory UrticariaNG_047146.1:g.28473G>A; NM_013447.3:c.1475G>A; NP_038475.2:p.Cys492Tyr199718602222005
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