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ESR2 estrogen receptor 2 [ Homo sapiens (human) ]

Gene ID: 2100, updated on 28-Jun-2020

Summary

Official Symbol
ESR2provided by HGNC
Official Full Name
estrogen receptor 2provided by HGNC
Primary source
HGNC:HGNC:3468
See related
Ensembl:ENSG00000140009 MIM:601663
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Erb; ESRB; ODG8; ESTRB; NR3A2; ER-BETA; ESR-BETA
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]
Expression
Broad expression in testis (RPKM 1.8), adrenal (RPKM 1.1) and 16 other tissues See more
Orthologs

Genomic context

See ESR2 in Genome Data Viewer
Location:
14q23.2-q23.3
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (64226707..64338631, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64693751..64805268, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene spectrin repeat containing nuclear envelope protein 2 Neighboring gene ribosomal protein S28 pseudogene 1 Neighboring gene microRNA 548h-1 Neighboring gene testis expressed 21, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9441 Neighboring gene methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
OVARIAN DYSGENESIS 8
MedGen: C4748626 OMIM: 618187 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env 17beta-estradiol (17beta-E2) protects human neuroblastoma cells from cell death elicited by HIV-1 gp120; estrogen receptor antagonists antagonize 17beta-E2-mediated inhibition gp120-induced cell death PubMed
Tat tat HIV-1 Tat-induced apoptosis through increased expression of anti-apoptotic protein Bcl-2, proapoptotic protein Bax and activation of caspases CASP3 and CASP9 is inhibited by estrogen receptor beta (ER beta)-mediated estrogen treatment PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
estrogen receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
estrogen receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
estrogen receptor activity TAS
Traceable Author Statement
more info
PubMed 
estrogen response element binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nuclear receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
nuclear receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor antagonist activity NAS
Non-traceable Author Statement
more info
PubMed 
repressing transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
steroid binding TAS
Traceable Author Statement
more info
PubMed 
steroid hormone receptor activity TAS
Traceable Author Statement
more info
PubMed 
transcription coactivator activity TAS
Traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
estrogen receptor beta
Names
estrogen receptor beta 4
estrogen receptor beta splice variant, ERbeta2delta7
estrogen receptor beta splice variant, ERbeta4delta7
estrogen receptor beta splice variant, ERbeta6
estrogen receptor beta splice variant, ERbeta6delta7
estrogen receptor beta splice variant, ERbeta7
estrogen receptor beta splice variant, ERbeta7delta7
estrogen receptor beta splice variant, ERbetaEx. 4L
estrogen receptor beta splice variant, ERbetaEx. 6L
nuclear receptor subfamily 3 group A member 2
oestrogen receptor beta

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011535.1 RefSeqGene

    Range
    49141..116518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040275.1NP_001035365.1  estrogen receptor beta isoform 2

    See identical proteins and their annotated locations for NP_001035365.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b, also known as 2) differs in the 3' UTR and 3' coding sequence, compared to variant a. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1, and dominantly inhibits the activity of other estrogen receptor family members. Variants b, k and m encode the same isoform 2.
    Source sequence(s)
    AF051428, AF060555, AL355094, BC024181
    Consensus CDS
    CCDS32096.1
    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    F1D8N3
    Related
    ENSP00000335551.4, ENST00000353772.7
    Conserved Domains (3) summary
    cd06949
    Location:263489
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  2. NM_001214902.1NP_001201831.1  estrogen receptor beta isoform 3

    See identical proteins and their annotated locations for NP_001201831.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) differs in the 3' UTR and 3' coding sequence, compared to variant a. The resulting isoform (3, also known as ER-beta4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB006590, AL355094, BC024181, DQ838582
    Consensus CDS
    CCDS55920.1
    UniProtKB/Swiss-Prot
    Q92731
    Related
    ENSP00000450488.1, ENST00000555278.5
    Conserved Domains (3) summary
    cd06949
    Location:263468
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  3. NM_001271876.1NP_001258805.1  estrogen receptor beta isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) differs in the 3' UTR and 3' coding sequence, compared to variant a. The resulting isoform (5, also known as ER-beta4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AB006590, AL355094, DQ777076
    Consensus CDS
    CCDS61470.1
    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    Q0PTK2
    Related
    ENSP00000452426.1, ENST00000553796.5
    Conserved Domains (3) summary
    cd06949
    Location:263470
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  4. NM_001271877.1NP_001258806.1  estrogen receptor beta isoform 6

    See identical proteins and their annotated locations for NP_001258806.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g) lacks two consecutive exons in the coding region compared to variant a. The resulting isoform (6, also known as 5/6) lacks an internal segment compared to isoform 1.
    Source sequence(s)
    AB006590, AF074599, AL161756
    Consensus CDS
    CCDS61469.1
    UniProtKB/Swiss-Prot
    Q92731
    Related
    ENSP00000267525.6, ENST00000267525.10
    Conserved Domains (3) summary
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
    cl11397
    Location:263407
    NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
  5. NM_001291712.2NP_001278641.1  estrogen receptor beta isoform 2

    See identical proteins and their annotated locations for NP_001278641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (k) represents an alternative promoter usage and differs in the 5' UTR, 3' coding region and 3' UTR, compared to variant a. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1. Variants b, k and m encode the same isoform 2.
    Source sequence(s)
    AB006589, AK292370, AL161756, AL355094, BC024181, CN366005, KC777386
    Consensus CDS
    CCDS32096.1
    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    F1D8N3
    Related
    ENSP00000450699.1, ENST00000554572.5
    Conserved Domains (3) summary
    cd06949
    Location:263489
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  6. NM_001291723.1NP_001278652.1  estrogen receptor beta isoform 2

    See identical proteins and their annotated locations for NP_001278652.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (l) represents an alternative promoter usage and differs in the 5' UTR, 3' coding region and 3' UTR, compared to variant a. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1. Variants b, k and m encode the same isoform 2.
    Source sequence(s)
    AK292370, BC024181, BX094834, CN366005
    Consensus CDS
    CCDS32096.1
    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    F1D8N3
    Related
    ENSP00000351412.5, ENST00000358599.9
    Conserved Domains (3) summary
    cd06949
    Location:263489
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  7. NM_001437.2NP_001428.1  estrogen receptor beta isoform 1

    See identical proteins and their annotated locations for NP_001428.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a, also known as 1) encodes the longest isoform (1).
    Source sequence(s)
    AF051427, AF060555, AL161756
    Consensus CDS
    CCDS9762.1
    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    Q7LCB3
    Related
    ENSP00000343925.4, ENST00000341099.5
    Conserved Domains (3) summary
    cd06949
    Location:263498
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta

RNA

  1. NR_073496.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (h) uses an alternate 5' and 3' exon structure and lacks an internal exon, compared to variant a. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB006589, AL161756, AL355094, BC024181, CN366005
  2. NR_073497.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (i) lacks an internal exon in the 5' region compared to variant a. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB006590, AL161756, AY438022
    Related
    ENST00000555483.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    64226707..64338631 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021084.1XP_016876573.1  estrogen receptor beta isoform X2

    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    F1D8N3
    Conserved Domains (3) summary
    cd06949
    Location:263489
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  2. XM_017021081.1XP_016876570.1  estrogen receptor beta isoform X1

    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    Q7LCB3
    Conserved Domains (3) summary
    cd06949
    Location:263498
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  3. XM_017021079.1XP_016876568.1  estrogen receptor beta isoform X1

    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    Q7LCB3
    Conserved Domains (3) summary
    cd06949
    Location:263498
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  4. XM_017021080.1XP_016876569.1  estrogen receptor beta isoform X1

    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    Q7LCB3
    Conserved Domains (3) summary
    cd06949
    Location:263498
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  5. XM_017021083.1XP_016876572.1  estrogen receptor beta isoform X1

    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    Q7LCB3
    Related
    ENSP00000451582.1, ENST00000557772.5
    Conserved Domains (3) summary
    cd06949
    Location:263498
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta
  6. XM_017021082.1XP_016876571.1  estrogen receptor beta isoform X1

    UniProtKB/Swiss-Prot
    Q92731
    UniProtKB/TrEMBL
    Q7LCB3
    Conserved Domains (3) summary
    cd06949
    Location:263498
    NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)
    cd07171
    Location:144225
    NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers
    pfam12497
    Location:16122
    ERbeta_N; Estrogen receptor beta

RNA

  1. XR_001750187.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001040276.1: Suppressed sequence

    Description
    NM_001040276.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001214903.1: Suppressed sequence

    Description
    NM_001214903.1: This RefSeq was permanently suppressed because it represents a partial transcript sequence. The complete transcript is a nonsense-mediated mRNA decay (NMD) candidate.
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