ESR2 estrogen receptor 2 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:3468
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: mouse all
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Genomic context

Location:: 14q23.2-q23.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (64226707..64338613, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (58434422..58546317, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (64693425..64805331, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GULP1 as a Downstream Effector of the Estrogen Receptor-beta Modulates Cisplatin Sensitivity in Bladder Cancer.
Title: GULP1 as a Downstream Effector of the Estrogen Receptor-β Modulates Cisplatin Sensitivity in Bladder Cancer.
The Influence of ESR2 Gene Polymorphisms on Susceptibility to Hepatitis B Virus-Related Chronic Hepatitis, Liver Cirrhosis, and Hepatocellular Carcinoma.
Title: The Influence of ESR2 Gene Polymorphisms on Susceptibility to Hepatitis B Virus-Related Chronic Hepatitis, Liver Cirrhosis, and Hepatocellular Carcinoma.
NLRC5 exerts anti-endometriosis effects through inhibiting ERbeta-mediated inflammatory response.
Title: NLRC5 exerts anti-endometriosis effects through inhibiting ERβ-mediated inflammatory response.
Allelic variants of the estrogen receptor genes and frailty phenotype in postmenopausal women.
Title: Allelic variants of the estrogen receptor genes and frailty phenotype in postmenopausal women.
25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERbeta/TNFRSF17 axis.
Title: 25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERβ/TNFRSF17 axis.
AURKA Enhances the Glycolysis and Development of Ovarian Endometriosis Through ERbeta.
Title: AURKA Enhances the Glycolysis and Development of Ovarian Endometriosis Through ERβ.
Exploring the association of ESR1 and ESR2 gene SNPs with polycystic ovary syndrome in human females: a comprehensive association study.
Title: Exploring the association of ESR1 and ESR2 gene SNPs with polycystic ovary syndrome in human females: a comprehensive association study.
USP7-mediated ERbeta stabilization mitigates ROS accumulation and promotes osimertinib resistance by suppressing PRDX3 SUMOylation in non-small cell lung carcinoma.
Title: USP7-mediated ERβ stabilization mitigates ROS accumulation and promotes osimertinib resistance by suppressing PRDX3 SUMOylation in non-small cell lung carcinoma.
The ERbeta-cAMP signaling pathway regulates estradiol-induced ovine oocyte meiotic arrest.
Title: The ERβ-cAMP signaling pathway regulates estradiol-induced ovine oocyte meiotic arrest.
Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression.
Title: Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression.

Submit: New GeneRIF Correction See all GeneRIFs (1052)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ovarian dysgenesis 8 MedGen: C4748626 OMIM: 618187 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:9484

G35928 (e-PCR)
- UniSTS:16428

PMC29094P1 (e-PCR)
- UniSTS:272432

G36177 (e-PCR)
- UniSTS:37939

G35720 (e-PCR)
- UniSTS:12207

G36178 (e-PCR)
- UniSTS:35527

G36170 (e-PCR)
- UniSTS:67535

D14S72 (e-PCR), detects polymorphism
- UniSTS:479968

D14S1026 (e-PCR), detects polymorphism
- UniSTS:28388

RH71305 (e-PCR)
- UniSTS:74743

G35938 (e-PCR)
- UniSTS:40698

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables estrogen response element binding	IBA Inferred from Biological aspect of Ancestor more info
enables estrogen response element binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear estrogen receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear estrogen receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables nuclear estrogen receptor activity	TAS Traceable Author Statement more info	PubMed
enables nuclear receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables nuclear steroid receptor activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor antagonist activity	NAS Non-traceable Author Statement more info	PubMed
enables steroid binding	ISS Inferred from Sequence or Structural Similarity more info
enables steroid binding	TAS Traceable Author Statement more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to estradiol stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in estrogen receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in estrogen receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: estrogen receptor beta

Names: estrogen receptor beta 2; estrogen receptor beta 4; nuclear receptor subfamily 3 group A member 2; oestrogen receptor beta

NCBI Reference Sequences (RefSeq)

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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

NG_011535.1 RefSeqGene

Range

49180..115234

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040275.1 → NP_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/TrEMBL

A0A348FV95, F1D8N3

Related

ENSP00000335551.4, ENST00000353772.7

Conserved Domains (3) summary

cd06949
Location:263 → 489

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:144 → 225

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam12497
Location:16 → 122

ERbeta_N; Estrogen receptor beta
NM_001214902.1 → NP_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/TrEMBL

A0A348FV95

Related

ENSP00000450488.1, ENST00000555278.5

Conserved Domains (3) summary

cd06949
Location:263 → 468

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:144 → 225

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam12497
Location:16 → 122

ERbeta_N; Estrogen receptor beta
NM_001271876.1 → NP_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/TrEMBL

A0A348FV93, Q0PTK2

Related

ENSP00000452426.1, ENST00000553796.5

Conserved Domains (3) summary

cd06949
Location:263 → 470

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:144 → 225

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam12497
Location:16 → 122

ERbeta_N; Estrogen receptor beta
NM_001271877.1 → NP_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:144 → 225

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam12497
Location:16 → 122

ERbeta_N; Estrogen receptor beta

cl11397
Location:263 → 407

NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators
NM_001291712.2 → NP_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/TrEMBL

A0A348FV95, F1D8N3

Related

ENSP00000450699.1, ENST00000554572.5

Conserved Domains (3) summary

cd06949
Location:263 → 489

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:144 → 225

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam12497
Location:16 → 122

ERbeta_N; Estrogen receptor beta
NM_001291723.1 → NP_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/TrEMBL

A0A348FV95, F1D8N3

Related

ENSP00000351412.5, ENST00000358599.9

Conserved Domains (3) summary

cd06949
Location:263 → 489

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:144 → 225

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam12497
Location:16 → 122

ERbeta_N; Estrogen receptor beta
NM_001437.3 → NP_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) encodes the longest isoform (1).

Source sequence(s)

AF051427, AF060555, AL161756, AL355094

Consensus CDS

CCDS9762.1

UniProtKB/Swiss-Prot

A8K8K5, G3V5M5, O60608, O60685, O60702, O60703, O75583, O75584, Q0MWT5, Q0MWT6, Q86Z31, Q92731, Q9UEV6, Q9UHD3, Q9UQK9

UniProtKB/TrEMBL

A0A348FV95, Q7LCB3

Related

ENSP00000343925.4, ENST00000341099.6

Conserved Domains (3) summary

cd06949
Location:263 → 498

NR_LBD_ER; Ligand binding domain of Estrogen receptor, which are activated by the hormone 17beta-estradiol (estrogen)

cd07171
Location:144 → 225

NR_DBD_ER; DNA-binding domain of estrogen receptors (ER) is composed of two C4-type zinc fingers

pfam12497
Location:16 → 122

ERbeta_N; Estrogen receptor beta

RNA

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
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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

64226707..64338613 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431076.1 → XP_047287032.1 estrogen receptor beta isoform X1
XM_047431077.1 → XP_047287033.1 estrogen receptor beta isoform X2

UniProtKB/TrEMBL

A0A348FV93
XM_047431078.1 → XP_047287034.1 estrogen receptor beta isoform X3

Related

ENSP00000345616.6, ENST00000344288.10

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

58434422..58546317 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375559.1 → XP_054231534.1 estrogen receptor beta isoform X4

UniProtKB/TrEMBL

F1D8N3
XM_054375560.1 → XP_054231535.1 estrogen receptor beta isoform X1
XM_054375561.1 → XP_054231536.1 estrogen receptor beta isoform X2

UniProtKB/TrEMBL

A0A348FV93
XM_054375562.1 → XP_054231537.1 estrogen receptor beta isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001040276.1: Suppressed sequence

Description

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