ESR2

estrogen receptor 2

Summary

This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]

Known Variants157 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1255998	14:64,693,871	G/T	—	—
rs58262369	14:64,693,912	C/T	downstream gene variant	—
rs8018687	14:64,694,082	T/C	downstream gene variant	benign
rs28440970	14:64,694,158	T/C	—	benign
rs928554	14:64,694,195	C/T	downstream gene variant	benign
rs17225885	14:64,694,749	G/T	—	benign
rs1152580	14:64,694,994	T/G	—	benign
rs1152579	14:64,695,087	A/G	—	benign
rs1152578	14:64,697,037	T/A	—	—
rs1256065	14:64,698,932	G/A	—	—
rs4986938	14:64,699,816	C/T	3 prime UTR variant	benign
rs112815397	14:64,699,864	C/T	—	likely benign
rs150646898	14:64,699,900	C/T	—	likely benign
rs201044476	14:64,699,903	T/C	—	likely benign
rs374713642	14:64,699,906	C/T	—	likely benign
rs773850651	14:64,699,918	G/A	—	likely benign
rs138689384	14:64,699,922	C/A	—	uncertain significance
rs888674106	14:64,699,923	C/A	—	uncertain significance
rs188329310	14:64,699,940	C/T	—	conflicting classifications of pathogenicity
rs766524153	14:64,699,944	C/T	—	uncertain significance
rs1481617898	14:64,699,945	G/A	—	likely benign
rs745350863	14:64,699,980	G/A	—	likely benign
rs1011299992	14:64,699,993	G/A	—	likely benign
rs944050	14:64,700,045	T/C	splice region variant	benign
rs944047	14:64,700,292	C/T	—	benign
rs944046	14:64,700,299	A/G	—	benign
rs1109056	14:64,701,430	C/G	—	benign
rs944045	14:64,701,446	T/C	intron variant	benign
rs944460	14:64,701,456	C/G	—	benign
rs57659495	14:64,701,644	A/G	—	benign
rs375446581	14:64,701,709	A/G	—	uncertain significance
rs780531016	14:64,701,711	G/C	—	likely benign
rs144392940	14:64,701,762	G/A	—	likely benign
rs367855747	14:64,701,763	C/T	—	uncertain significance
rs60101369	14:64,701,771	A/G	—	likely benign
rs113652563	14:64,701,777	C/A	—	uncertain significance
rs368248753	14:64,701,792	G/A	—	likely benign
rs200615874	14:64,701,797	C/T	—	uncertain significance
rs211694397	14:64,701,799	G/T	missense variant	—
rs377196538	14:64,701,800	C/T	—	uncertain significance
rs146717881	14:64,701,814	G/A	—	likely benign
rs1217623435	14:64,701,817	A/C	—	uncertain significance
rs770908423	14:64,701,826	C/T	—	uncertain significance
rs773962693	14:64,701,830	T/C	—	uncertain significance
rs2140618646	14:64,701,834	A/T	—	likely benign
rs1484172872	14:64,701,850	G/A	—	uncertain significance
rs2229618	14:64,701,857	G/C	—	likely benign
rs2098731362	14:64,701,865	A/G	—	uncertain significance
rs1256062	14:64,703,318	T/C	regulatory region variant	—
rs10144225	14:64,704,994	A/G	regulatory region variant	—
rs8021763	14:64,707,648	A/G	intron variant	—
rs1256059	14:64,710,417	A/G	intron variant	—
rs373170989	14:64,716,273	G/C	—	uncertain significance
rs1256054	14:64,716,313	G/C	—	benign
rs764756707	14:64,716,326	C/T	—	uncertain significance
rs753050523	14:64,716,338	G/A	—	uncertain significance
rs144249047	14:64,716,387	T/C	—	uncertain significance
rs147847668	14:64,716,388	C/T	—	likely benign
rs77486742	14:64,716,410	G/A	—	likely benign
rs2274705	14:64,716,629	A/C	intron variant	benign
rs10140457	14:64,716,693	A/C	intron variant	benign
rs3223460	14:64,720,313	—	—	—
rs752612054	14:64,723,977	T/A	—	uncertain significance
rs200264592	14:64,723,999	G/A	—	uncertain significance
rs144986202	14:64,724,024	C/T	—	benign
rs56926155	14:64,724,033	A/G	—	benign
rs1256049	14:64,724,051	C/T	synonymous variant	benign
rs58256696	14:64,724,060	G/A	—	likely benign
rs201005626	14:64,724,092	G/A	—	benign
rs372294809	14:64,724,101	G/A	—	likely benign
rs1567753148	14:64,727,178	T/C	—	pathogenic
rs768672906	14:64,727,215	C/A	—	uncertain significance
rs751277839	14:64,727,248	C/T	—	uncertain significance
rs767100418	14:64,727,266	G/A	—	uncertain significance
rs2550402707	14:64,727,270	G/T	—	uncertain significance
rs757821946	14:64,727,273	G/A	—	likely benign
rs750720041	14:64,727,275	T/C	—	uncertain significance
rs139838202	14:64,727,311	G/A	—	likely benign
rs149404315	14:64,727,318	C/A	—	benign
rs760331553	14:64,727,327	G/T	—	uncertain significance
rs750886730	14:64,727,336	G/A	—	likely benign
rs940580455	14:64,727,343	A/G	—	uncertain significance
rs1449093053	14:64,727,358	C/G	—	uncertain significance
rs748219656	14:64,727,362	G/T	—	uncertain significance
rs370979619	14:64,727,364	G/A	—	likely benign
rs201239439	14:64,727,371	C/T	—	likely benign
rs775342550	14:64,727,383	T/C	—	uncertain significance
rs760419460	14:64,727,391	C/T	—	uncertain significance
rs368036749	14:64,727,414	G/A	—	likely benign
rs767711085	14:64,727,426	T/C	—	likely benign
rs752856261	14:64,727,430	C/T	—	uncertain significance
rs561226739	14:64,727,436	A/G	—	uncertain significance
rs761268108	14:64,727,453	C/T	—	likely benign
rs78851986	14:64,727,458	T/C	—	likely benign
rs77331331	14:64,727,472	G/A	—	likely benign
rs3742614	14:64,735,496	G/A	—	benign
rs74808355	14:64,735,532	T/C	—	likely benign
rs2228481	14:64,735,535	G/A	—	benign
rs371856990	14:64,735,546	G/A	—	uncertain significance
rs748841139	14:64,735,551	C/A	—	uncertain significance

Showing 100 of 157 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.