Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2100

Name

ESR2

Synonymous

ER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2;estrogen receptor 2 (ER beta);ESR2;estrogen receptor 2 (ER beta)

Definition

estrogen nuclear receptor beta variant a|estrogen nuclear receptor beta variant b|estrogen receptor beta|estrogen receptor beta 4|nuclear receptor subfamily 3 group A member 2

Position

14q23.2

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for ESR2

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.R501C; chr14:64699947-64699947

lungadenocarcinoma; carcinoma

p.V163I; chr14:64746747-64746747

lungadenocarcinoma; carcinoma

p.A302A; chr14:64727213-64727213

lungsquamous_cell_carcinoma; carcinoma

p.A313T; chr14:64727182-64727182

lungadenocarcinoma; carcinoma

p.D326H; chr14:64724059-64724059

lungsquamous_cell_carcinoma; carcinoma

p.R227L; chr14:64727439-64727439

lungsquamous_cell_carcinoma; carcinoma

p.A497V; chr14:64699958-64699958

lungadenocarcinoma; carcinoma


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