Aliases: NR3A2, Erb, ER-beta.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| 46,XX Gonadal Dysgenesis |
untyped
A heterozygous dominant-negative ESR2 variant was reported in one patient with complete ovarian failure.
germline
|
mechanism: Oocyte-Granulosa Growth and Estrogen Signaling Failure
subtype: ODG8
scoped to subtype: ODG8
|
| Heart Failure | no genetic record |
mechanism: Loss of Myocardial Oestrogen Receptor Signalling
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.