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Normal Function
The ADGRE2 gene provides instructions for making a protein found in several types of immune system cells, including mast cells. Mast cells, which are found in many body tissues including the skin, are important for the normal protective functions of the immune system. They also play a role in allergic reactions, which occur when the immune system overreacts to stimuli that are not harmful. The specific role of the ADGRE2 protein in mast cells is not well understood.
The ADGRE2 protein consists of two parts (subunits) that interact with each other: an alpha subunit that lies on the outside surface of the cell and a beta subunit that crosses the cell membrane and extends into the cell.
Health Conditions Related to Genetic Changes
Vibratory urticaria
At least one mutation in the ADGRE2 gene has been identified in people with vibratory urticaria, a condition in which vibration, repetitive stretching, or friction on the skin results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area. The reaction can be brought on by towel drying, hand clapping, running, a bumpy ride in a vehicle, or other repetitive stimulation.
The ADGRE2 gene mutation that causes vibratory urticaria, written as Cys492Tyr or C492Y, replaces the protein building block (amino acid) cysteine with the amino acid tyrosine at position 492 of the protein sequence. The substitution alters the protein structure and leads to a less stable interaction between the two subunits. This fragile connection can be more easily broken; vibration, friction, or stretching of the skin can disrupt the association between subunits in mast cells. Researchers suggest that once the subunits are disconnected, the beta subunit signals the mast cells to react and produce the allergy symptoms in the skin that occur in vibratory urticaria.
More About This Health ConditionOther Names for This Gene
- CD312
- EGF-like module-containing mucin-like hormone receptor-like 2
- EMR2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, Eisch AR, Long RD, Lee CC, Satorius CL, Pakstis AJ, Olivera A, Mullikin JC, Chouery E, Megarbane A, Medlej-Hashim M, Kidd KK, Kastner DL, Metcalfe DD, Komarow HD. Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med. 2016 Feb 18;374(7):656-63. doi: 10.1056/NEJMoa1500611. Epub 2016 Feb 3. Citation on PubMed or Free article on PubMed Central
- Hamann J, Aust G, Arac D, Engel FB, Formstone C, Fredriksson R, Hall RA, Harty BL, Kirchhoff C, Knapp B, Krishnan A, Liebscher I, Lin HH, Martinelli DC, Monk KR, Peeters MC, Piao X, Promel S, Schoneberg T, Schwartz TW, Singer K, Stacey M, Ushkaryov YA, Vallon M, Wolfrum U, Wright MW, Xu L, Langenhan T, Schioth HB. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. Pharmacol Rev. 2015;67(2):338-67. doi: 10.1124/pr.114.009647. Citation on PubMed or Free article on PubMed Central
- Schioth HB, Nordstrom KJ, Fredriksson R. The adhesion GPCRs; gene repertoire, phylogeny and evolution. Adv Exp Med Biol. 2010;706:1-13. doi: 10.1007/978-1-4419-7913-1_1. Citation on PubMed
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