The ESR2 gene homepage

General information
Gene symbol ESR2
Gene name estrogen receptor 2 (ER beta)
Chromosome 14
Chromosomal band q21-q22
Imprinted Unknown
Genomic reference NG_011535.1
Transcript reference NM_001040275.1
Exon/intron information NM_001040275.1 exon/intron table
Associated with diseases ODG, ODG8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 21
Individuals with public variants 6
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated November 27, 2023
Version ESR2:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001040275.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/ESR2
HGNC 3468
Entrez Gene 2100
PubMed articles ESR2
OMIM - Gene 601663
OMIM - Diseases ODG8 (dysgenesis, ovarian, type 8 (ODG-8))
HGMD ESR2
GeneCards ESR2
GeneTests ESR2
Orphanet ESR2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007251 14 transcript variant b NM_001040275.1 NP_001035365.1 22


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