Entrez Gene

Basic Information
Gene ID	2100
Name	ESR2
Synonymous	estrogen receptor 2 (ER beta);ESR2;estrogen receptor 2 (ER beta)
Definition	estrogen receptor beta\|estrogen receptor beta 4\|nuclear receptor subfamily 3 group A member 2
Position	14q23.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.680G>T; p.R227L; 14:64260721-64260721	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.759C>T; p.P253P; 14:64260642-64260642	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.652G>T; p.G218C; 14:64268795-64268795	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.238T>C; p.W80R; 14:64282748-64282748	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.238T>C; p.W80R; 14:64282748-64282748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1542G>A; p.P514P; 14:64233188-64233188	skin	malignant_melanoma	Substitution - coding silent
c.1586C>T; p.S529F; 14:64233144-64233144	skin	malignant_melanoma	Substitution - Missense
c.772C>T; p.L258L; 14:64260629-64260629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.831G>A; p.P277P; 14:64260570-64260570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1342T>A; p.S448T; 14:64235034-64235034	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1457C>T; p.P486L; 14:64233273-64233273	thyroid	other; neoplasm	Substitution - Missense
c.460G>A; p.D154N; 14:64280056-64280056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1014G>A; p.V338V; 14:64257303-64257303	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1014G>A; p.V338V; 14:64257303-64257303	liver	carcinoma	Substitution - coding silent
c.485G>C; p.G162A; 14:64280031-64280031	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1265G>T; p.S422I; 14:64235111-64235111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.552T>G; p.I184M; 14:64268895-64268895	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.81C>T; p.H27H; 14:64282905-64282905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101G>A; p.G367G; 14:64249670-64249670	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.455G>T; p.C152F; 14:64280061-64280061	liver	carcinoma	Substitution - Missense
c.455G>T; p.C152F; 14:64280061-64280061	liver	carcinoma	Substitution - Missense
c.1132G>C; p.D378H; 14:64249639-64249639	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1132G>C; p.D378H; 14:64249639-64249639	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1132G>C; p.D378H; 14:64249639-64249639	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.679C>T; p.R227C; 14:64260722-64260722	breast	carcinoma	Substitution - Missense
c.414T>C; p.T138T; 14:64280102-64280102	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.137T>C; p.M46T; 14:64282849-64282849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1297G>A; p.V433M; 14:64235079-64235079	prostate	carcinoma	Substitution - Missense
c.733G>A; p.A245T; 14:64260668-64260668	skin	malignant_melanoma	Substitution - Missense
c.439C>T; p.H147Y; 14:64280077-64280077	breast	carcinoma	Substitution - Missense
c.766C>T; p.R256W; 14:64260635-64260635	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1010A>T; p.E337V; 14:64257307-64257307	skin	malignant_melanoma	Substitution - Missense
c.861G>A; p.A287A; 14:64260540-64260540	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.937G>A; p.A313T; 14:64260464-64260464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.674G>T; p.G225V; 14:64260727-64260727	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1065C>A; p.I355I; 14:64257252-64257252	liver	carcinoma	Substitution - coding silent
c.1054G>A; p.G352S; 14:64257263-64257263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1065C>A; p.I355I; 14:64257252-64257252	liver	carcinoma	Substitution - coding silent
c.1086G>A; p.L362L; 14:64257231-64257231	skin	malignant_melanoma	Substitution - coding silent
c.1091delG; p.D365fs*6; 14:64249680-64249680	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1495G>A; p.V499M; 14:64233235-64233235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.371T>C; p.L124P; 14:64280145-64280145	pancreas	carcinoma	Substitution - Missense
c.783C>T; p.D261D; 14:64260618-64260618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.549T>C; p.Y183Y; 14:64268898-64268898	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1576A>T; p.N526Y; 14:64233154-64233154	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1494C>T; p.H498H; 14:64233236-64233236	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.859G>A; p.A287T; 14:64260542-64260542	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.474A>C; p.G158G; 14:64280042-64280042	breast	carcinoma	Substitution - coding silent
c.996G>A; p.E332E; 14:64257321-64257321	skin	malignant_melanoma	Substitution - coding silent
c.850C>T; p.R284C; 14:64260551-64260551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.961G>A; p.E321K; 14:64257356-64257356	skin	malignant_melanoma	Substitution - Missense
c.1575G>A; p.Q525Q; 14:64233155-64233155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.631G>A; p.E211K; 14:64268816-64268816	breast	carcinoma	Substitution - Missense
c.810C>T; p.L270L; 14:64260591-64260591	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.659G>A; p.R220Q; 14:64260742-64260742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.519T>A; p.F173L; 14:64279997-64279997	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1055G>A; p.G352D; 14:64257262-64257262	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.353C>T; p.P118L; 14:64282633-64282633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.98C>T; p.P33L; 14:64282888-64282888	skin	malignant_melanoma	Substitution - Missense
c.14delA; p.N5fs*33; 14:64282972-64282972	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1525G>A; p.G509R; 14:64233205-64233205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.740G>A; p.R247K; 14:64260661-64260661	skin	malignant_melanoma	Substitution - Missense
c.947T>A; p.I316N; 14:64260454-64260454	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.984G>A; p.V328V; 14:64257333-64257333	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1572C>T; p.S524S; 14:64233158-64233158	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.984G>A; p.V328V; 14:64257333-64257333	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.984G>A; p.V328V; 14:64257333-64257333	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.115A>C; p.S39R; 14:64282871-64282871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.115A>C; p.S39R; 14:64282871-64282871	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.335C>T; p.S112L; 14:64282651-64282651	skin	malignant_melanoma	Substitution - Missense
c.1186G>T; p.E396*; 14:64249585-64249585	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.620G>A; p.R207Q; 14:64268827-64268827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.335C>T; p.S112L; 14:64282651-64282651	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.335C>T; p.S112L; 14:64282651-64282651	skin	malignant_melanoma	Substitution - Missense
c.620G>A; p.R207Q; 14:64268827-64268827	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>A; p.R207Q; 14:64268827-64268827	central_nervous_system; brain	glioma	Substitution - Missense
c.473G>A; p.G158E; 14:64280043-64280043	skin	malignant_melanoma	Substitution - Missense
c.1501C>T; p.R501C; 14:64233229-64233229	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.343C>T; p.H115Y; 14:64282643-64282643	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.343C>T; p.H115Y; 14:64282643-64282643	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1075G>T; p.D359Y; 14:64257242-64257242	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.263C>T; p.P88L; 14:64282723-64282723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.976G>C; p.D326H; 14:64257341-64257341	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.870C>T; p.T290T; 14:64260531-64260531	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.812C>T; p.T271I; 14:64260589-64260589	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.690G>A; p.R230R; 14:64260711-64260711	skin	malignant_melanoma	Substitution - coding silent
c.1490C>T; p.A497V; 14:64233240-64233240	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1115G>A; p.G372E; 14:64249656-64249656	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.580G>A; p.D194N; 14:64268867-64268867	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.580G>A; p.D194N; 14:64268867-64268867	skin	malignant_melanoma	Substitution - Missense
c.1205C>T; p.A402V; 14:64249566-64249566	liver	carcinoma	Substitution - Missense
c.1182C>G; p.H394Q; 14:64249589-64249589	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1182C>G; p.H394Q; 14:64249589-64249589	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.951C>A; p.P317P; 14:64260450-64260450	ovary	other; neoplasm	Substitution - coding silent
c.951C>A; p.P317P; 14:64260450-64260450	ovary	other; neoplasm	Substitution - coding silent
c.726C>T; p.A242A; 14:64260675-64260675	stomach	adenocarcinoma	Substitution - coding silent
c.1054G>T; p.G352C; 14:64257263-64257263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.292C>T; p.L98L; 14:64282694-64282694	skin	malignant_melanoma	Substitution - coding silent
c.63C>A; p.S21S; 14:64282923-64282923	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.784G>A; p.A262T; 14:64260617-64260617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.63C>T; p.S21S; 14:64282923-64282923	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.784G>A; p.A262T; 14:64260617-64260617	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1121T>C; p.L374P; 14:64249650-64249650	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1530C>T; p.S510S; 14:64233200-64233200	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1108G>A; p.V370I; 14:64249663-64249663	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.536G>A; p.G179E; 14:64268911-64268911	skin	malignant_melanoma	Substitution - Missense
c.502G>A; p.G168R; 14:64280014-64280014	skin	malignant_melanoma	Substitution - Missense
c.1407-4A>G; p.?; 14:64233327-64233327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.977A>G; p.D326G; 14:64257340-64257340	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.638G>A; p.G213E; 14:64268809-64268809	skin; extremity	malignant_melanoma	Substitution - Missense
c.976G>A; p.D326N; 14:64257341-64257341	breast	carcinoma	Substitution - Missense
c.106T>C; p.Y36H; 14:64282880-64282880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1504G>A; p.G502R; 14:64233226-64233226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1100G>A; p.G367E; 14:64249671-64249671	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1302C>T; p.T434T; 14:64235074-64235074	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1212C>T; p.I404I; 14:64249559-64249559	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1356C>T; p.S452S; 14:64235020-64235020	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.400G>A; p.A134T; 14:64280116-64280116	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.277C>T; p.R93C; 14:64282709-64282709	skin; mucosal	malignant_melanoma	Substitution - Missense
c.589C>T; p.R197W; 14:64268858-64268858	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1194C>T; p.L398L; 14:64249577-64249577	skin	malignant_melanoma	Substitution - coding silent
c.952G>A; p.G318S; 14:64260449-64260449	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.775C>A; p.L259M; 14:64260626-64260626	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense

COSMIC somatic mutation [Top]