ADGRE2

adhesion G protein-coupled receptor E2

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. [provided by RefSeq, Aug 2012]

Known Variants400 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1568580719	19:14,854,213	G/A	—	likely benign
rs750461791	19:14,854,221	C/T	—	likely benign
rs141741521	19:14,854,231	C/T	—	uncertain significance
rs202101555	19:14,854,232	C/A	—	uncertain significance
rs61732002	19:14,854,233	G/A	—	benign
rs138856853	19:14,854,250	G/A	—	likely benign
rs758950184	19:14,854,258	T/A	—	uncertain significance
rs2512945172	19:14,854,261	C/T	—	uncertain significance
rs2042989150	19:14,854,264	T/C	—	uncertain significance
rs2512945396	19:14,854,278	T/C	—	uncertain significance
rs374876815	19:14,854,288	A/T	—	uncertain significance
rs2512945643	19:14,854,306	T/C	—	uncertain significance
rs751384950	19:14,854,319	C/T	—	benign
rs2512946038	19:14,854,331	T/C	—	likely benign
rs117617387	19:14,854,338	C/T	—	benign
rs780140985	19:14,854,339	G/A	—	uncertain significance
rs2512946361	19:14,854,349	A/G	—	likely benign
rs59052512	19:14,854,358	G/A	—	benign
rs1265450494	19:14,854,419	C/A	—	likely benign
rs1357846898	19:14,854,426	A/T	—	uncertain significance
rs2042995345	19:14,854,437	G/A	—	likely benign
rs1290191706	19:14,854,439	G/T	—	uncertain significance
rs2512947579	19:14,854,466	C/T	—	uncertain significance
rs753968524	19:14,854,493	A/C	—	uncertain significance
rs376746197	19:14,854,510	C/T	—	uncertain significance
rs201317256	19:14,854,511	G/A	—	uncertain significance
rs2512948577	19:14,854,512	G/T	—	likely benign
rs373190699	19:14,854,514	C/A	—	conflicting classifications of pathogenicity
rs199725081	19:14,854,518	C/T	—	likely benign
rs774168050	19:14,854,519	G/A	—	uncertain significance
rs531140876	19:14,854,536	G/A	—	likely benign
rs2147141875	19:14,854,545	C/T	—	benign
rs759637864	19:14,854,549	G/A	—	uncertain significance
rs2512949480	19:14,854,556	C/T	—	uncertain significance
rs758592313	19:14,854,562	T/C	—	uncertain significance
rs372923957	19:14,854,568	G/A	—	likely benign
rs1160381596	19:14,854,570	T/A	—	uncertain significance
rs757876958	19:14,854,572	A/C	—	likely benign
rs200359297	19:14,854,578	C/T	—	likely benign
rs564713952	19:14,854,579	G/A	—	uncertain significance
rs370433460	19:14,854,588	G/A	—	uncertain significance
rs1450030442	19:14,854,593	C/A	—	uncertain significance
rs770666070	19:14,857,026	C/T	—	likely benign
rs1377501311	19:14,857,029	C/G	—	likely benign
rs757248394	19:14,857,033	C/T	—	benign
rs1400635690	19:14,857,034	T/G	—	likely benign
rs374432034	19:14,857,053	C/T	—	conflicting classifications of pathogenicity
rs201706729	19:14,857,054	G/A	—	likely benign
rs58281547	19:14,857,055	A/G	—	likely benign
rs377535059	19:14,857,063	A/T	—	uncertain significance
rs1222129684	19:14,857,065	A/G	—	uncertain significance
rs57865820	19:14,857,067	T/G	—	benign
rs772043754	19:14,857,074	T/C	—	uncertain significance
rs200295887	19:14,857,089	C/A	—	conflicting classifications of pathogenicity
rs1479320374	19:14,857,092	T/C	—	uncertain significance
rs2512974753	19:14,857,102	T/C	—	uncertain significance
rs548759776	19:14,857,103	C/T	—	conflicting classifications of pathogenicity
rs2043084552	19:14,857,105	A/G	—	uncertain significance
rs147387582	19:14,857,114	C/G	—	conflicting classifications of pathogenicity
rs2512974988	19:14,857,115	C/T	—	uncertain significance
rs200330090	19:14,857,123	G/T	—	uncertain significance
rs377454798	19:14,857,719	C/T	—	uncertain significance
rs61732001	19:14,857,720	G/T	—	uncertain significance
rs371200658	19:14,857,727	G/C	—	uncertain significance
rs748439255	19:14,857,738	G/T	—	likely benign
rs773762022	19:14,857,742	C/T	—	uncertain significance
rs2512983842	19:14,857,745	A/G	—	uncertain significance
rs377637436	19:14,857,751	C/T	—	uncertain significance
rs370665322	19:14,857,762	T/A	—	uncertain significance
rs756940070	19:14,857,767	G/A	—	uncertain significance
rs767130765	19:14,857,772	C/A	—	uncertain significance
rs142522626	19:14,862,247	C/T	—	uncertain significance
rs144670525	19:14,862,248	C/T	—	uncertain significance
rs1301296866	19:14,862,256	T/C	—	likely benign
rs150922672	19:14,862,268	G/C	—	uncertain significance
rs1469505911	19:14,862,275	C/T	—	uncertain significance
rs3752187	19:14,862,278	A/G	—	benign
rs771057297	19:14,862,281	G/C	—	uncertain significance
rs143530914	19:14,862,306	C/T	—	uncertain significance
rs370157037	19:14,862,315	C/T	—	uncertain significance
rs776005214	19:14,862,316	G/A	—	likely benign
rs374518362	19:14,862,332	A/T	—	likely benign
rs368370128	19:14,862,343	C/T	—	uncertain significance
rs113941589	19:14,862,353	T/C	—	likely benign
rs2043283332	19:14,862,354	T/G	—	uncertain significance
rs765916098	19:14,862,370	G/A	—	likely benign
rs753481314	19:14,862,376	C/T	—	likely benign
rs45563436	19:14,862,377	G/A	—	conflicting classifications of pathogenicity
rs111634121	19:14,862,386	C/T	—	benign
rs1359045292	19:14,862,387	G/A	—	uncertain significance
rs2513034428	19:14,862,393	T/C	—	uncertain significance
rs145425662	19:14,862,396	G/A	—	conflicting classifications of pathogenicity
rs767441479	19:14,862,399	A/G	—	uncertain significance
rs781288814	19:14,862,423	T/A	—	conflicting classifications of pathogenicity
rs2513035175	19:14,862,425	C/T	—	uncertain significance
rs2524383	19:14,862,430	C/G	—	benign
rs2513035351	19:14,862,434	G/A	—	uncertain significance
rs202154380	19:14,862,449	T/C	—	uncertain significance
rs780336044	19:14,862,452	T/A	—	uncertain significance
rs4410209	19:14,862,458	G/A	—	benign

Showing 100 of 400 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.