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    ESR2 estrogen receptor 2 [ Homo sapiens (human) ]

    Gene ID: 2100, updated on 19-Jul-2016
    Official Symbol
    ESR2provided by HGNC
    Official Full Name
    estrogen receptor 2provided by HGNC
    Primary source
    HGNC:HGNC:3468
    See related
    Ensembl:ENSG00000140009 HPRD:03390; MIM:601663; Vega:OTTHUMG00000141306
    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; 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]
    Orthologs
    Location:
    14q23.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (64226712..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 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Neighboring gene zinc finger and BTB domain containing 25

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

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    • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
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    • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
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    • Ovarian Infertility Genes, organism-specific biosystem (from WikiPathways)
      Ovarian Infertility Genes, organism-specific biosystemOvarian bottleneck genes associated with infertility. A valuable approach to the study of infertility is the comparison of mutations of individual human and mouse genes associated with infertility ph...
    • Plasma membrane estrogen receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Plasma membrane estrogen receptor signaling, organism-specific biosystem
      Plasma membrane estrogen receptor signaling
    • Prolactin signaling pathway, organism-specific biosystem (from KEGG)
      Prolactin signaling pathway, organism-specific biosystemProlactin (PRL) is a polypeptide hormone known to be involved in a wide range of biological functions including osmoregulation, lactation, reproduction, growth and development, endocrinology and meta...
    • Prolactin signaling pathway, conserved biosystem (from KEGG)
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    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    estradiol binding IEA
    Inferred from Electronic Annotation
    more info
     
    estrogen receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    estrogen response element binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome proliferator activated receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor antagonist activity NAS
    Non-traceable Author Statement
    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 binding IEA
    Inferred from Electronic Annotation
    more info
     
    steroid hormone receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Sertoli cell development IEA
    Inferred from Electronic Annotation
    more info
     
    Sertoli cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    amygdala development IEA
    Inferred from Electronic Annotation
    more info
     
    behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to estradiol stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to magnetism IEA
    Inferred from Electronic Annotation
    more info
     
    cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    estrous cycle IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular negative regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    hypothalamus development IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular estrogen receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    learning or memory IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of feeding behavior IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron death IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    prostate gland development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    response to bisphenol A IEA
    Inferred from Electronic Annotation
    more info
     
    response to dexamethasone IEA
    Inferred from Electronic Annotation
    more info
     
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to genistein IEA
    Inferred from Electronic Annotation
    more info
     
    response to human chorionic gonadotropin IEA
    Inferred from Electronic Annotation
    more info
     
    response to insecticide IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    response to salt IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to water deprivation IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cilium IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection IEA
    Inferred from Electronic Annotation
    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 
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    protein-DNA complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    estrogen receptor beta
    Names
    ER beta
    estrogen receptor 2 (ER beta)
    estrogen receptor beta 4
    nuclear receptor subfamily 3 group A member 2

    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, ENST00000353772
      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, OTTHUMP00000245362, ENST00000555278, OTTHUMT00000412157
      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:21124
      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, OTTHUMP00000245364, ENST00000553796, OTTHUMT00000412159
      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:21124
      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, ENST00000267525
      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:21124
      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_001291712.1NP_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, BC024181, CN366005, KC777386
      Consensus CDS
      CCDS32096.1
      UniProtKB/Swiss-Prot
      Q92731
      UniProtKB/TrEMBL
      F1D8N3
      Related
      ENSP00000450699, OTTHUMP00000245360, ENST00000554572, OTTHUMT00000412155
      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, OTTHUMP00000245361, ENST00000358599, OTTHUMT00000412156
      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, OTTHUMP00000180647, ENST00000341099, OTTHUMT00000280621
      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:21124
      ERbeta_N; Estrogen receptor beta

    RNA

    1. NR_073496.1 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, 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      64226712..64338631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021084.1XP_016876573.1  

      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  

    3. XM_017021079.1XP_016876568.1  

    4. XM_017021080.1XP_016876569.1  

    5. XM_017021083.1XP_016876572.1  

      Related
      ENSP00000451582, OTTHUMP00000245365, ENST00000557772, OTTHUMT00000412160
    6. XM_017021082.1XP_016876571.1  

    RNA

    1. XR_001750187.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      64633252..64745077 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.