U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ESR2 estrogen receptor 2 [ Homo sapiens (human) ]

    Gene ID: 2100, updated on 1-Jul-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ESR2 in Genome Data Viewer
    Location:
    14q23.2-q23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64226707..64338613, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (58434422..58546317, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64693425..64805331, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene spectrin repeat containing nuclear envelope protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5831 Neighboring gene ribosomal protein S28 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8521 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35084 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64357721-64358428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64360139-64360663 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35095 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64417577-64418140 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64418141-64418703 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:64503774-64504468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64526989-64527584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64540907-64541408 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:64581878-64582065 Neighboring gene microRNA 548h-1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64649031-64649892 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:64652879-64653670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64663246-64663842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64691697-64692198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64692199-64692698 Neighboring gene uncharacterized LOC124903328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64805694-64806376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8530 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64858021-64858754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64858755-64859488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64859797-64860574 Neighboring gene testis expressed 21, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8532 Neighboring gene methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Neighboring gene zinc finger and BTB domain containing 25

    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

    EBI GWAS Catalog

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

    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
     
    Component Evidence Code Pubs
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of 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

    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)

    NEW Try the new Transcript table

    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
      49180..115234
      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/TrEMBL
      A0A348FV95, 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/TrEMBL
      A0A348FV95
      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/TrEMBL
      A0A348FV93, 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/TrEMBL
      A0A348FV95, 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/TrEMBL
      A0A348FV95, 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_001437.3NP_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: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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      64226707..64338613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431076.1XP_047287032.1  estrogen receptor beta isoform X1

      UniProtKB/TrEMBL
      A0A348FV95
    2. XM_047431077.1XP_047287033.1  estrogen receptor beta isoform X2

      UniProtKB/TrEMBL
      A0A348FV93, Q0PTK2
    3. XM_047431078.1XP_047287034.1  estrogen receptor beta isoform X3

      UniProtKB/TrEMBL
      A0A348FV97
      Related
      ENSP00000345616.6, ENST00000344288.10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      58434422..58546317 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A348FV95, F1D8N3
    2. XM_054375560.1XP_054231535.1  estrogen receptor beta isoform X1

      UniProtKB/TrEMBL
      A0A348FV95
    3. XM_054375561.1XP_054231536.1  estrogen receptor beta isoform X2

      UniProtKB/TrEMBL
      A0A348FV93, Q0PTK2
    4. XM_054375562.1XP_054231537.1  estrogen receptor beta isoform X3

      UniProtKB/TrEMBL
      A0A348FV97

    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.