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ESR2 Gene

protein-coding   GIFtS: 70
GCID: GC14M064550

Estrogen Receptor 2 (ER Beta)

  See ESR2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Estrogen Receptor 2 (ER Beta)1 2     Erb2
Nuclear Receptor Subfamily 3 Group A Member 22 3     Estrogen Nuclear Receptor Beta Variant A2
ESTRB2 3     Estrogen Nuclear Receptor Beta Variant B2
NR3A22 3     Estrogen Receptor Beta2
ER-BETA2     Estrogen Receptor Beta 42
ESR-BETA2     ER-beta3
ESRB2     

External Ids:    HGNC: 34681   Entrez Gene: 21002   Ensembl: ENSG000001400097   OMIM: 6016635   UniProtKB: Q927313   

Export aliases for ESR2 gene to outside databases

Previous GC identifers: GC14M062021 GC14M058487 GC14M062683 GC14M062685 GC14M063621 GC14M063763 GC14M064693 GC14M044866


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ESR2 Gene:
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)

GeneCards Summary for ESR2 Gene:
ESR2 (estrogen receptor 2 (ER beta)) is a protein-coding gene. Diseases associated with ESR2 include serous cystadenocarcinoma, and gender identity disorder. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is NR4A3.

UniProtKB/Swiss-Prot: ESR2_HUMAN, Q92731
Function: Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates
expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner. Isoform
beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of
ligand-dependent transactivation ability. DNA-binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in
the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at
elevated temperature is more gradual

summary for ESR2 Gene:
Estrogen controls many cellular processes including growth, differentiation and function of the reproductive
system. In females, estrogen's main targets are the ovaries, uterus, vagina and mammary glands. In the male,
target organs are the testes, prostate and epididymis. Estrogen is also responsible for the growth and
maintenance of the skeleton and the normal functioning of the cardiovascular and nervous systems. Estrogen
exerts most of its actions via estrogen receptors (ER). Estrogen receptors are ligand-activated
transcription factors belonging to the nuclear hormone receptor superfamily. Today, two estrogen receptors
are known, ERalpha and ERbeta. ERalpha protein is highly homologous to ERbeta protein, especially in the DNA
and ligand binding domains, although divergence exists in the N-terminal transactivation domain. Both
receptors interact with the same DNA response element and show a similar ligand binding profile. Upon ligand
binding estrogen receptors undergo a conformational change allowing spontaneous dimerization to form either
homo- or heterodimers. As a dimer, the estrogen receptor binds to the estrogen response element (ERE) in the
promoter region of target genes. ERalpha and ERbeta which are present in a broad spectrum of tissues.

Gene Wiki entry for ESR2 (Estrogen receptor beta) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ESR2 gene promoter:
         TBP   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ESR2 promoter sequence
   Search Chromatin IP Primers for ESR2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ESR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q23.2   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q21-q22

ESR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ESR2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M064550:  view genomic region     (about GC identifiers)

Start:
64,550,950 bp from pter      End:
64,805,268 bp from pter
Size:
254,319 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ESR2_HUMAN, Q92731 (See protein sequence)
Recommended Name: Estrogen receptor beta  
Size: 530 amino acids; 59216 Da
Subunit: Binds DNA as a homodimer. Can form a heterodimer with ESR1. Interacts with NCOA1, NCOA3, NCOA5 and NCOA6
coactivators, leading to a strong increase of transcription of target genes. Interacts with PELP1 and UBE1C.
Isoform beta-2/cx preferentially forms a heterodimer with ESR1 rather than ESR2 and inhibits DNA-binding by ESR1.
Interacts with AKAP13. Interacts with DNTTIP2. Interacts with isoform 4 of TXNRD1. Interacts with CCDC62 in the
presence of estradiol/E2; this interaction seems to enhance the transcription of target genes, including
cyclin-D1/CCND1 AP-1 promoter. Interacts with DYX1C1 (By similarity). Interacts with PRMT2
Sequence caution: Sequence=CAA67555.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for ESR2 (see all 30):
1L2J (3D)        1NDE (3D)        1QKM (3D)        1U3Q (3D)        1U3R (3D)        1U3S (3D)    
Secondary accessions: A8K8K5 O60608 O60685 O60702 O60703 O75583 O75584 Q0MWT5 Q0MWT6 Q86Z31
Q9UEV6 Q9UHD3 Q9UQK9
Alternative splicing: 8 isoforms:  Q92731-1   Q92731-2   Q92731-3   Q92731-4   Q92731-5   Q92731-6   Q92731-7   Q92731-8   
(Does not form homodimers)

Explore the universe of human proteins at neXtProt for ESR2: NX_Q92731

Explore proteomics data for ESR2 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-87 and Ser-105 recruits NCOA11
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ESR2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001035365.1  NP_001201831.1  NP_001201832.1  NP_001258805.1  NP_001258806.1  NP_001428.1  

    ENSEMBL proteins: 
     ENSP00000452485   ENSP00000450699   ENSP00000351412   ENSP00000450488   ENSP00000345616  
     ENSP00000452426   ENSP00000451582   ENSP00000343925   ENSP00000441792   ENSP00000335551  
     ENSP00000350427   ENSP00000267525  
    Reactome Protein details: Q92731

    ESR2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ESR2
    OriGene Protein Over-expression Lysate for ESR2
    OriGene MassSpec for ESR2
    OriGene Custom Protein Services for ESR2
    GenScript Custom Purified and Recombinant Proteins Services for ESR2
    Novus Biologicals ESR2 Proteins
    Novus Biologicals ESR2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ESR2 

     
    antibodies-online proteins for ESR2 (19 products) 

     
    antibodies-online peptides for ESR2

    ESR2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ESR2
    R&D Systems Antibodies for ESR2 (ER beta/NR3A2)
    OriGene Antibodies for ESR2
    OriGene Custom Antibody Services for ESR2
    Novus Biologicals ESR2 Antibodies
    Abcam antibodies for ESR2 (P03372, Q92731)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ESR2
    antibodies-online antibodies for ESR2 (244 products) 

    ESR2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ESR2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ESR2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ESR2 
    antibodies-online kits for ESR2 (35 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NR: Nuclear hormone receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: Estrogen receptor-beta
    3A. Estrogen receptors

    Selected InterPro protein domains (see all 8):
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR001723 Str_hrmn_rcpt
     IPR024178 Oest_rcpt/oest-rel_rcp
     IPR013088 Znf_NHR/GATA
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core

    Graphical View of Domain Structure for InterPro Entry Q92731

    ProtoNet protein and cluster: Q92731

    1 Blocks protein domain: IPB001723 Steroid hormone receptor signature

    UniProtKB/Swiss-Prot: ESR2_HUMAN, Q92731
    Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal
    ligand-binding domain
    Similarity: Belongs to the nuclear hormone receptor family. NR3 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    Find genes that share domains with ESR2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ESR2_HUMAN, Q92731
    Function: Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1, and activates
    expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner. Isoform
    beta-cx lacks ligand binding ability and has no or only very low ere binding activity resulting in the loss of
    ligand-dependent transactivation ability. DNA-binding by ESR1 and ESR2 is rapidly lost at 37 degrees Celsius in
    the absence of ligand while in the presence of 17 beta-estradiol and 4-hydroxy-tamoxifen loss in DNA-binding at
    elevated temperature is more gradual

         Genatlas biochemistry entry for ESR2:
    estrogen receptor beta,steroid/thyroid receptor superfamily,with several alternatively spliced isoforms (hER beta
    1-5),expressed in thymus,spleen,ovary and testis, not rearranged in uterine leiomyomata,see ULCR14

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001046core promoter sequence-specific DNA binding IDA15345745
    GO:0003677DNA binding TAS9636657
    GO:0003700sequence-specific DNA binding transcription factor activity TAS8769313
    GO:0003707steroid hormone receptor activity TAS10749889
    GO:0003713transcription coactivator activity TAS8769313
         
    Find genes that share ontologies with ESR2           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ESR2:
     Increased G1 DNA content  Increased cell death in breast  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Esr2) (see all 24):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with ESR2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ESR2: Esr2tm1.2Pcn Esr2tm1Aghe Esr2tm1Psh Esr2tm1Mma Esr2tm1Unc

       genOway: Develop your customized and physiologically relevant rodent model for ESR2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ESR2:
    hsa-mir-335-5p (MIRT017943), hsa-mir-92a-3p (MIRT004563)

    Block miRNA regulation of human, mouse, rat ESR2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate ESR2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ESR2
    Predesigned siRNA for gene silencing in human, mouse, rat ESR2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ESR2

    Clone
    Products:
         
    OriGene clones in human, mouse for ESR2 (see all 19)
    OriGene ORF clones in mouse, rat for ESR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ESR2 (NM_001437)
    Sino Biological Human cDNA Clone for ESR2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESR2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESR2
    Addgene plasmids for ESR2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ESR2
    Browse ESI BIO Cell Lines and PureStem Progenitors for ESR2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESR2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ESR2_HUMAN, Q92731: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    extracellular4
    plasma membrane2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS9671811
    GO:0005634nucleus TAS11181953
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA15024130

    Find genes that share ontologies with ESR2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ESR2 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    Nuclear Receptors0.67
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3ERK Signaling
    ERK Signaling0.61
    4GPCR Pathway
    Estrogen Pathway0.55
    5Chks in Checkpoint Regulation
    Estrogen-mediated S-Phase Entry0.55


    Find genes that share SuperPaths with ESR2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ESR2
        TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ESR2 (see all 6)
        ERK Signaling
    Estrogen-mediated S-Phase Entry
    eNOS Signaling
    Estrogen Pathway
    MNAR-PELP1 and Estrogen Receptor Interaction

    2 GeneGo (Thomson Reuters) Pathways for ESR2
        Development Ligand-independent activation of ESR1 and ESR2
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2

    5 BioSystems Pathways for ESR2
        Nuclear Receptors
    SIDS Susceptibility Pathways
    Ovarian Infertility Genes
    Integrated Pancreatic Cancer Pathway
    Plasma membrane estrogen receptor signaling


    1 Reactome Pathway for ESR2
        Nuclear Receptor transcription pathway

    1 PharmGKB Pathway for ESR2
        Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics

    2 Kegg Pathways  (Kegg details for ESR2):
        Estrogen signaling pathway
    Prolactin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESR2 (see all 6): 
              Estrogen Receptor Signaling in human mouse rat
              Cancer Drug Targets in human mouse rat
              Breast Cancer in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ESR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ESR2 (Q927311, 3 ENSP000003439254) via UniProtKB, MINT, STRING, and/or I2D (see all 453)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4LP628053, ENSP000003482584I2D: score=1 STRING: ENSP00000348258
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15345745
    GO:0001541ovarian follicle development IEA--
    GO:0001764neuron migration IEA--
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated TAS11181953

    Find genes that share ontologies with ESR2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for ESR2
      Browse compounds at ApexBio 

    Compounds for ESR2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (Z)-4-HydroxytamoxifenMetabolite of tamoxifen (Cat. No. 0999)[68047-06-3]
    ICI 182,780 Estrogen receptor antagonist[129453-61-8]
    DPNHighly potent ERbeta agonist[1428-67-7]
    PPTSubtype-selective ERalpha agonist[263717-53-9]
    PHTPPSelective ERbeta antagonist[805239-56-9]

    1 HMDB Compound for ESR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Estradiol(+)-3,17b-Estradiol (see all 83)50-28-2--

    Selected DrugBank Compounds for ESR2 (see all 30)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TamoxifenICI-46474 (see all 3)10540-29-1targetantagonist agonist17158759 20827267 16822624 11752352 16326830 16010412 2011412 17404078
    RaloxifeneLY-139481 (see all 6)84449-90-1targetagonist11861516 10418979 11810032 11752352 12097269 11500849
    Genistein4',5, 7-Trihydroxyisoflavone (see all 4)446-72-0target--17139284 17016423 10592235
    N-Butyl-11-[(7r,8r,9s,13s,14s,17s)-3,17-Dihydroxy-13-Methyl-7,8,9,11,12,13,14,15,16,17-Decahydro-6h-Cyclopenta[a]Phenanthren-7-Yl]-N-Methylundecanamide-- --target--17139284 17016423 10592235
    Para-Mercury-Benzenesulfonic Acid-- --target--17139284 17016423 10592235
    Trilostane-- 13647-35-3targetallosteric modulator12209583 16806905 17109615
    4-(2-{[4-{[3-(4-Chlorophenyl)Propyl]Sulfanyl}-6-(1-Piperazinyl)-1,3,5-Triazin-2-Yl]Amino}Ethyl)Phenol-- --target--17139284 17016423
    DiethylstilbestrolDES (see all 10)56-53-1targetagonist15123288 19101832
    Estradiol17beta oestradiol (see all 7)50-28-2targetagonist17464340 2011412
    EstropipateEstropipate (usp) (see all 4)7280-37-7targetagonist17464340 2011412

    Selected IUPHAR Ligands for ESR2 (Estrogen receptor-beta) (see all 14)    About this table
    LigandTypeActionAffinityPubmed IDs
    4-hydroxy?aetamoxifen
    AntagonistAntagonist10.69048584
    diethylstilbestrol
    AgonistAgonist9.89048584
    17beta-estradiol
    AgonistAgonist9.349048584
    WAY200070
    AgonistFull agonist8.52 - 915456246
    fulvestrant
    AntagonistAntagonist8.74--
    diarylpropionitril
    AgonistAgonist8.611150164 11708925
    R,R-THC
    AntagonistAntagonist8.449927308 10395487
    estriol
    AgonistAgonist8.49048584
    genistein
    AgonistAgonist8.29048584
    estrone
    AgonistAgonist7.939048584

    Selected Novoseek inferred chemical compound relationships for ESR2 gene (see all 108)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 96.1 3585 19800101 (9), 18620727 (7), 12895004 (6), 16214508 (6) (see all 99)
    4-hydroxytamoxifen 85.1 40 17464340 (6), 18663360 (4), 11720858 (2), 16782818 (2) (see all 21)
    estradiol 84.7 197 10601611 (6), 10342855 (4), 19001520 (4), 15345745 (3) (see all 99)
    tamoxifen 81.9 167 16010412 (8), 19744542 (5), 11078914 (4), 17404078 (4) (see all 76)
    fulvestrant 80.1 13 19528477 (2), 19212635 (2), 17923257 (1), 16549430 (1) (see all 7)
    progesterone 80 273 16033082 (5), 17905466 (3), 19200930 (3), 19094096 (2) (see all 99)
    raloxifene 80 38 10076999 (2), 11720858 (2), 15138633 (2), 17962382 (2) (see all 26)
    steroid 76.9 114 10499535 (2), 11775002 (2), 11806710 (2), 12702147 (2) (see all 78)
    genistein 76.1 109 16596234 (5), 19556829 (5), 16513288 (5), 18258689 (4) (see all 51)
    daidzein 73.5 39 14664520 (5), 11431145 (3), 16673816 (2), 16972265 (2) (see all 17)

    4 PharmGKB related drug/compound annotations for ESR2 gene    About this table
    Drug/compound PharmGKB Annotation
    anastrozole
    exemestane
    fulvestrant
    tamoxifen  CA  



    Find genes that share compounds with ESR2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ESR2 gene (7 alternative transcripts): 
    NM_001040275.1  NM_001214902.1  NM_001214903.1  NM_001271876.1  NM_001271877.1  NM_001437.2  NM_001040276.1  

    Unigene Cluster for ESR2:

    Estrogen receptor 2 (ER beta)
    Hs.660607  [show with all ESTs]
    Unigene Representative Sequence: AB006589
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556275 ENST00000554572(uc001xgy.2 uc001xgv.3 uc001xgw.3 uc001xgx.3)
    ENST00000358599(uc001xgz.2) ENST00000555278 ENST00000344288 ENST00000553796
    ENST00000557772 ENST00000555483(uc010aqd.1) ENST00000554520 ENST00000341099(uc010aqb.1 uc010aqc.1 uc001xha.1)
    ENST00000555783 ENST00000542956 ENST00000353772(uc001xgu.3) ENST00000357782
    ENST00000267525
    miRNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ESR2
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    OriGene clones in human, mouse for ESR2 (see all 19)
    OriGene ORF clones in mouse, rat for ESR2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ESR2 (NM_001437)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESR2
    Addgene plasmids for ESR2 
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      QuantiTect SYBR Green Assays in human, mouse, rat ESR2
      QuantiFast Probe-based Assays in human, mouse, rat ESR2

    Additional mRNA sequence: 

    AB006589.1 AB006590.1 AF047463.1 AF051427.1 AF051428.1 AF061054.1 AF074598.1 AF074599.1 
    AK292370.1 AY438022.1 BC006461.1 BC024181.2 DQ777076.1 DQ777077.1 DQ838582.1 DQ838583.1 
    HQ692820.1 HQ692821.1 NR_073496.1 NR_073497.1 NR_073505.1 X99101.1 

    11 DOTS entries:

    DT.310701  DT.100751205  DT.102837012  DT.120767971  DT.120767979  DT.40120425  DT.92419264  DT.40125379 
    DT.95367837  DT.91703242  DT.100740263 

    Selected AceView cDNA sequences (see all 316):

    CA867834 AK095241 AI200286 AA814679 AW731703 NM_182913 AW451449 AF435011 
    BM469251 CA423800 BM562970 AY061758 BG110769 AY184204 BP364494 BE856003 
    BQ269694 AA972285 BE673396 BU101582 AK095087 BI914129 CA868590 BM019005 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ESR2 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c · 16d ^
    SP1:                                                                                                              -                                             
    SP2:                                                                                                              -                       -     -     -     -   
    SP3:                    -     -     -     -     -     -     -     -                                               -     -                 -     -     -     -   
    SP4:                                                                                                              -                                             
    SP5:                                                                                            -                                                               

    ExUns: 17a · 17b · 17c · 17d
    SP1:                        
    SP2:  -                     
    SP3:  -                     
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for ESR2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ESR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCACAGTG
    ESR2 Expression
    About this image


    ESR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Septum   
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Granulosa Cells Primary Follicle
             oocyte   
    ESR2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ESR2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660607

    UniProtKB/Swiss-Prot: ESR2_HUMAN, Q92731
    Tissue specificity: Isoform beta-1 is expressed in testis and ovary, and at a lower level in heart, brain,
    placenta, liver, skeletal muscle, spleen, thymus, prostate, colon, bone marrow, mammary gland and uterus. Also
    found in uterine bone, breast, and ovarian tumor cell lines, but not in colon and liver tumors. Isoform beta-2 is
    expressed in spleen, thymus, testis and ovary and at a lower level in skeletal muscle, prostate, colon, small
    intestine, leukocytes, bone marrow, mammary gland and uterus. Isoform beta-3 is found in testis. Isoform beta-4
    is expressed in testis, and at a lower level in spleen, thymus, ovary, mammary gland and uterus. Isoform beta-5
    is expressed in testis, placenta, skeletal muscle, spleen and leukocytes, and at a lower level in heart, lung,
    liver, kidney, pancreas, thymus, prostate, colon, small intestine, bone marrow, mammary gland and uterus. Not
    expressed in brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ESR2 (see all 6): 
              Estrogen Receptor Signaling in human mouse rat
              Cancer Drug Targets in human mouse rat
              Breast Cancer in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              Cancer Drug Resistance in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ESR2
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESR2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ESR2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Esr21 , 5 estrogen receptor 2 (beta)1, 5 84.65(n)1
    88.68(a)1
      12 (33.52 cM)5
    139831  NM_010157.31  NP_034287.31 
     761204195 
    chicken
    (Gallus gallus)
    Aves ESR21 estrogen receptor 2 (ER beta) 74.78(n)
    80.7(a)
      395575  NM_204794.2  NP_990125.1 
    lizard
    (Anolis carolinensis)
    Reptilia ESR26
    estrogen receptor 2 (ER beta)
    70(a)
    1 ↔ 1
    1(1646467-1679450)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC3944602 estrogen receptor beta 79.44(n)    AY310903.1 
    zebrafish
    (Danio rerio)
    Actinopterygii esr2a2 estrogen receptor 2a 77.22(n)   317734  AF516874.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ERR6
    estrogen-related receptor
    26(a)
    1 → many
    3L(8176461-8179771)


    ENSEMBL Gene Tree for ESR2 (if available)
    TreeFam Gene Tree for ESR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ESR2 gene
    NR4A32  ESRRA2  NR3C22  NR4A12  PGR2  NR3C12  AR2  NR4A22  
    ESRRB2  ESR12  ESRRG2  
    Selected SIMAP similar genes for ESR2 using alignment to 4 protein entries:     ESR2_HUMAN (see all proteins) (see all similar genes):
    NR3A2    ESR1    NR3C2    HNF4G    NR2C2    HNF4alpha
    NR1I3    VDR    NR3A1    NR5A1    ESRRG    THRB
    NR3B3    ERRgamma    NR1H3    ESRRB    NR3C4    RARG

    Find genes that share paralogs with ESR2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ESR2 (see all 2376)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1161649971,2
    C,F--44866330(+) GCCCCT/CTGTTG 4 -- ds5001 int11Minor allele frequency- C:0.03WA 118
    rs1390048851,2
    --44866383(+) GAGGAC/TAGGCA 4 -- nc-transcript-variantut310--------
    rs12559981,2
    C,F,A,H--44866453(-) CTGTGC/GCTGCC 4 -- ut31 nc-transcript-variant22Minor allele frequency- G:0.39MN EA NA NS WA CSA 3005
    rs582623691,2
    C--44866494(+) CTTCTC/TTGCCA 4 -- nc-transcript-variantut313Minor allele frequency- T:0.08CSA WA EA 239
    rs80186871,2
    C,F,H--44866664(+) ATTGTT/CGGATT 5 -- nc-transcript-variantut31 ds500126Minor allele frequency- C:0.23NA NS EA WA CSA 2485
    rs1146297271,2
    C,F--44866728(+) AACTCT/CTTCTT 5 -- nc-transcript-variantut31 ds50011Minor allele frequency- C:0.02WA 118
    rs284409701,2
    C,F--44866740(+) AAAATT/CATTTT 5 -- nc-transcript-variantut31 ds50012Minor allele frequency- C:0.07NA EA 240
    rs1422199231,2
    --44866752(+) TTCATG/TGATTA 5 -- nc-transcript-variantut31 ds50010--------
    rs9285541,2
    C,F,O,A,H--44866777(-) CTTCAA/GTTTCC 5 -- ut31 ds5001 nc-transcript-variant33Minor allele frequency- G:0.31MN EA NA NS WA CSA 4528
    rs2014852811,2
    --44866797(+) TACCCA/GAGATT 5 -- nc-transcript-variantut31 ds50010--------
    rs746040271,2
    C,F--44866817(+) GCCACC/TGAGTT 5 -- nc-transcript-variantut31 ds50011Minor allele frequency- T:0.03WA 118
    rs1928948521,2
    C--44866929(+) AGATGC/TGGGAC 5 -- int1 ut31 ds50010--------
    rs1849600711,2
    --44867078(+) TTTCAC/GTCAAA 5 -- int1 ut31 ds50010--------
    rs11525811,2
    C,F,H--44867103(+) CAAAAC/ATCTTT 5 -- int1 ut31 ds50019Minor allele frequency- A:0.02MN NS EA NA 1084
    rs1893710991,2
    --44867253(+) TAATCA/CAACTC 5 -- int1 ut310--------
    rs172258851,2
    C,F,H--44867331(+) TTTACT/GTGTAT 6 /K /T int1 mis116Minor allele frequency- G:0.09NA NS EA WA CSA 932
    rs1810174131,2
    --44867405(+) TTCTTC/TTTAAG 5 -- int10--------
    rs11525801,2
    C,F,O,H--44867576(-) TAATTA/CGGCTA 5 -- int122Minor allele frequency- C:0.27EA NA NS CSA WA 3082
    rs11525791,2
    C,F,O,A,H--44867669(+) TCTCTA/GCGACA 5 -- int124Minor allele frequency- N:0.00EA NA NS WA CSA 2578
    rs772909751,2
    C,F--44867686(+) TAGACA/GTTAAA 5 -- int12Minor allele frequency- G:0.07CSA WA 120
    rs1504879431,2
    --44867693(+) TAAAGA/GGACAC 5 -- int10--------
    rs1903222401,2
    C--44977996(+) CCCCCC/GTCCCC 2 -- us2k10--------
    rs1853795491,2
    --45681620(+) AAAGCC/TTGCAA 5 -- int10--------
    rs1159149971,2
    C,F--45681663(+) GCATTC/GGTCTG 5 -- int11Minor allele frequency- G:0.04WA 118
    rs791988401,2
    C,F--45681795(+) ATTGTA/GCAGTT 5 -- int11Minor allele frequency- G:0.03NA 120
    rs1382512261,2
    --45681983(+) ATCATA/TCATCA 5 -- int10--------
    rs1496156691,2
    --45682000(+) ATGCAC/TATCTT 5 -- int10--------
    rs1442850011,2
    --45682003(+) CACATC/TTTAAG 5 -- int10--------
    rs1408612341,2
    --45682255(+) AGATTA/GTGCAT 5 -- int10--------
    rs1145749371,2
    C,F--45682330(+) GAGATG/AGGATC 5 -- int11Minor allele frequency- A:0.03WA 118
    rs1893645161,2
    --45682450(+) GGCCCA/GCTAGG 5 -- int10--------
    rs1429845941,2
    --45682472(+) CTTGCA/GTGCCA 5 -- int10--------
    rs611742061,2
    C,F--45682605(+) TGTGTC/ATGTAG 5 -- int18Minor allele frequency- A:0.21WA NA CSA EA 367
    rs1819367231,2
    --45682660(+) GGGGCA/CCCATT 5 -- int10--------
    rs1859460221,2
    --45682824(+) GTGACC/TTTCAG 5 -- int10--------
    rs1917594351,2
    --45682844(+) TTAGAA/CCGTGT 5 -- int10--------
    rs1811936231,2
    --45682873(+) AATAAA/GGAAAT 5 -- int10--------
    rs768447841,2
    C,F--45682903(+) ATTAAA/GTGTGA 5 -- int11Minor allele frequency- G:0.06WA 118
    rs1999460331,2
    --45683003(+) AACTT-/AAAAAA 5 -- int10--------
    rs1165573811,2
    C,F--45683017(+) TGTGGC/TGGGGC 5 -- int11Minor allele frequency- T:0.03WA 118
    rs1474497491,2
    --45683095(+) CCAGGA/GGTTCA 5 -- int10--------
    rs1159523011,2
    C,F--45683190(+) CTCGGC/TGAGGG 5 -- int12Minor allele frequency- T:0.06WA EA 238
    rs17609881,2
    C,F,A,H--45683218(-) CACAGC/TGCCCC 5 -- int111Minor allele frequency- T:0.30NA WA CSA EA 373
    rs9444581,2
    C,F,A,H--45683222(+) CACTGT/CGGTGG 5 -- int19Minor allele frequency- C:0.41NA WA CSA EA 370
    rs1864877921,2
    --45683253(+) AGGTCA/GAGGCT 5 -- int10--------
    rs343134371,2
    C--45683321(+) GTCTC-/AAAAAA 5 -- int10--------
    rs1914759041,2
    --45683398(+) AAGGTG/TCACTT 5 -- int10--------
    rs11525781,2
    C,F,O,A,H--45683442(-) GGTTTG/AGTTCT 5 -- int117Minor allele frequency- A:0.30NS EA NA WA CSA 1146
    rs1398875571,2
    --45683491(+) TTCCAC/TTTATA 5 -- int10--------
    rs1821056471,2
    --45683501(+) ATACAA/TAAATA 5 -- int10--------
    rs1866622051,2
    --45683627(+) GACTCA/GCACTG 5 -- int10--------
    rs753016201,2
    F--45683719(+) TTCCCG/ACCTTA 5 -- int11Minor allele frequency- A:0.06WA 118
    rs1175299231,2
    F--45683754(+) GACTAT/ATTTAG 5 -- int11Minor allele frequency- A:0.03NA 120
    rs11525771,2
    C,F,O,A--45683890(-) GCAGTC/ATCAGG 5 -- int111Minor allele frequency- A:0.28NA WA CSA EA 496
    rs802578241,2
    --45683915(+) AAAGGC/GATTGC 5 -- int10--------
    rs1436636581,2
    --45683989(+) AAAAT-/TATA  
            
    TATAT
    5 -- int10--------
    rs1171755171,2
    F--45684015(+) ATTTCG/CTGGCA 5 -- int11Minor allele frequency- C:0.11NA 120
    rs11525761,2
    C,F,A--45684232(-) GCCCAT/GGAGTT 5 -- int110Minor allele frequency- G:0.41NA WA CSA EA 370
    rs1907279361,2
    --45684377(+) ACTGGA/CAGATA 5 -- int10--------
    rs1395661911,2
    C--45684551(+) AATCTG/TACTAA 5 -- int10--------
    rs1497290171,2
    --45684571(+) TGAGTC/TTCTAA 5 -- int10--------
    rs1834259041,2
    --45684582(+) GAATAA/TCTTCA 5 -- int10--------
    rs572969171,2
    C,F--45684632(-) CTTGGA/TCAAGT 5 -- int12Minor allele frequency- T:0.01WA 310
    rs1873543341,2
    --45684963(+) TAAAAG/TGTGAG 5 -- int10--------
    rs11526021,2
    C--45685003(-) TAGGAC/TATGAA 5 -- int16Minor allele frequency- T:0.11NA CSA EA 438
    rs284186481,2
    C,F--45685027(+) TGGAAT/CAAGAA 5 -- int110Minor allele frequency- C:0.23NA WA CSA EA 561
    rs71599901,2
    C,F,H--45685214(+) ATCAAG/AGCTAT 5 -- int18Minor allele frequency- A:0.00NS EA NA 804
    rs12560661,2
    C,F,A,H--45685295(-) CTGTGG/AATGTG 5 -- int121Minor allele frequency- A:0.15NS EA NA CSA WA 2724
    rs1929596761,2
    --45685331(+) GTGACG/TGATGG 5 -- int10--------
    rs12560651,2
    C,F,O,A,H--45685336(-) TTGCCA/CCATCA 5 -- int132Minor allele frequency- C:0.28NA EA NS WA CSA 3347
    rs1848239521,2
    --45685358(+) ACTTAA/TGAGGT 5 -- int10--------
    rs1403028121,2
    C--45685367(+) GTTGTA/GCAAGA 5 -- int10--------
    rs788109831,2
    F--45685404(+) GGAAAC/TACTGT 5 -- int10--------
    rs1878517631,2
    --45685587(+) ACCCCA/GAATTA 5 -- int10--------
    rs1929581191,2
    --45685618(+) AAATCA/GAGAGG 5 -- int10--------
    rs1464132571,2
    --45685720(+) AAGCAC/TCATAT 8 -- ds5001 int10--------
    rs357437601,2
    C,F--45685735(-) GGGACT/AGATCA 8 -- ds5001 int16Minor allele frequency- A:0.01MN NA 528
    rs9444591,2
    C,F,O,A,H--45685762(+) AAGTAC/TGCAAT 8 -- ds5001 int124Minor allele frequency- T:0.16NA EA NS MN 3544
    rs1490363591,2
    --45685766(+) ACGCAA/GTTGCC 8 -- ds5001 int10--------
    rs1437945251,2
    --45685770(+) AATTGC/TCACAG 8 -- ds5001 int10--------
    rs80061451,2
    C,F,A,H--45685854(+) CCACAC/AAAGAA 8 -- ds5001 int124Minor allele frequency- A:0.23MN NS EA NA CSA WA 2836
    rs1390429951,2
    C--45686054(+) ATGTG-/CCCCCTC 8 -- ds5001 int10--------
    rs1836184831,2
    --45686085(+) GCTTCC/TTCACA 8 -- ds5001 int10--------
    rs1115314031,2
    C--45686202(+) CACACT/CGGAGT 8 -- ut31 int1 nc-transcript-variant2Minor allele frequency- C:0.04WA 120
    rs1481797371,2
    C--45686212(+) TTCACA/GCTTCA 8 -- ut31 int1 nc-transcript-variant0--------
    rs49869381,2
    C,F,H--45686220(-) TCACAG/AGCTGA 8 -- ut31 int1 nc-transcript-variant31Minor allele frequency- A:0.28MN NA NS EA CSA WA 3287
    rs2007479271,2
    --45686257(+) CCAGGC/TGTCAC 8 -- int1 ut31 nc-transcript-variant0--------
    rs1128153971,2
    C--45686268(+) TGAGAC/TTGTGG 10 Q syn1 int11Minor allele frequency- T:0.50CSA 2
    rs1506468981,2
    F--45686304(+) CTGTCC/TTCTGC 10 E syn1 int11Minor allele frequency- T:0.00NA 4552
    rs1883293101,2
    C--45686344(+) ACTTGC/TACCCG 10 Y C mis1 int10--------
    rs1419407421,2
    C--45686357(+) AAGCAC/TGTGGG 10 M V mis1 int10--------
    rs9440501,2
    C,F,A,H--45686449(-) TCCCCA/GTAGTA 8 -- int119Minor allele frequency- G:0.12NS EA NA CSA WA EU 3668
    rs1819068711,2
    C--45686450(+) ACTATA/GGGGAC 8 -- int10--------
    rs586843421,2
    C--45686486(-) TGGCTG/ACCTCG 8 -- int11Minor allele frequency- A:0.01--190
    rs582131621,2
    C,F--45686500(-) CTTCGG/AGGTTC 8 -- int11Minor allele frequency- A:0.01--190
    rs579643181,2
    C,F--45686513(-) GAGCCG/AGGGAA 8 -- int12Minor allele frequency- A:0.02NA 310
    rs9440491,2
    C,H--45686586(-) TGCACG/AAGCCA 8 -- int17Minor allele frequency- A:0.00NS EA NA 612
    rs118519421,2
    H--45686614(+) ATTTAG/AGCTCA 8 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1169191861,2
    F--45686628(+) GCAAGG/AACGAT 8 -- int11Minor allele frequency- A:0.03EA 120
    rs9440481,2
    H--45686647(-) ACACAG/CAGGCT 8 -- int14Minor allele frequency- C:0.00NS EA 412
    rs9440471,2
    C,F,A--45686696(-) ATGAGA/GATTGA 8 -- int112Minor allele frequency- G:0.29NA WA CSA EA 374
    rs9440461,2
    C,F,A--45686703(-) GCAAAT/CAATGA 8 -- int112Minor allele frequency- C:0.29NA WA CSA EA 374
    rs613666631,2
    C,F--45686784(-) AGGCTT/CGCAGG 8 -- int12Minor allele frequency- C:0.03NA 308
    rs568315201,2
    C,F--45686922(-) CTCGGG/ATGTGA 8 -- int11Minor allele frequency- A:0.01--188
    rs1430732941,2
    --45686957(+) ATAAGA/GCACAT 8 -- int10--------
    rs1851119211,2
    C--45686977(+) TTCACA/GCCGAG 8 -- int10--------
    rs1474855081,2
    --45687092(+) AGGACA/GCTTGT 8 -- int10--------
    rs12560641,2
    C,F,A,H--45687143(-) ttatgT/Cacagt 8 -- int126Minor allele frequency- C:0.40NS EA NA WA CSA 2904
    rs1398209821,2
    --45687156(+) GGCAAC/TTCAAA 8 -- int10--------
    rs1901702211,2
    --45687176(+) ACTCTC/GTTCAT 8 -- int10--------
    rs8674421,2
    C,F,H--45687257(+) tgaagG/CaatcT 8 -- int18Minor allele frequency- C:0.01NS EA NA WA 680
    rs1815127661,2
    --45687365(+) TATTGG/TCCTTC 8 -- int10--------
    rs595669531,2
    C,F--45687387(-) AGGCAA/CGTCTA 8 -- int12Minor allele frequency- C:0.03WA 310
    rs1181229731,2
    C,F--45687394(+) GCCTCC/TTCAGT 8 -- int11Minor allele frequency- T:0.02EA 120
    rs8674431,2
    C,F,A,H--45687446(+) CTCCAG/AGGCAA 8 -- int113Minor allele frequency- A:0.18NS EA NA WA 1338
    rs1495740931,2
    --45687532(+) CATCAA/GCACAC 9 -- int1 ds50010--------
    rs171017321,2
    C,F,H--45687545(+) AATTAC/GGTTTC 9 -- int1 ds500114Minor allele frequency- G:0.11NA NS EA WA CSA 925
    rs124320291,2
    C,F,A,H--45687546(+) ATTACG/ATTTCC 9 -- int1 ds50014Minor allele frequency- A:0.04EA NS NA 420
    rs171017341,2
    C,F--45687629(+) ATCCTT/CAATTT 9 -- int1 ds50014Minor allele frequency- C:0.03NA WA 260
    rs1870474971,2
    --45687636(+) ATTTCC/GTGATG 9 -- int1 ds50010--------
    rs1909819441,2
    --45687664(+) CTTAGA/GGAAGC 9 -- int1 ds50010--------
    rs1441303031,2
    --45687685(+) TTCTTC/TGCATC 9 -- int1 ds50010--------
    rs1486993141,2
    --45687719(+) GGAGCA/GGGTCT 9 -- int1 ds50010--------
    rs11090561,2
    C,F,H--45687834(-) TTATAG/CCCTGT 9 -- int1 ds500118Minor allele frequency- C:0.19NS EA NA WA CSA 1123
    rs1812303421,2
    --45687846(+) CCCCAA/GCAATT 9 -- int1 ds50010--------
    rs9440451,2
    C,F,O,A,H--45687850(-) TTTCAA/GTTGCT 9 -- int1 ds500126Minor allele frequency- G:0.23NA NS EA WA CSA 2669
    rs9444601,2
    C,F,O,A,H--45687860(+) AAACCC/GATGAG 9 -- int1 ds500123Minor allele frequency- N:0.00NS EA NA CSA WA 2738
    rs1850388991,2
    --45687866(+) ATGAGC/GCACCA 9 -- int1 ds50010--------
    rs1421539761,2
    --45687900(+) AGATAC/TCACAT 9 -- int1 ds50010--------
    rs576594951,2
    C,F--45688048(-) TGGGAT/CTATGT 9 -- int1 ut312Minor allele frequency- C:0.03WA 310
    rs2003593771,2
    C--45688051(+) TAATCC/TCATCC 9 -- int1 ut311Minor allele frequency- T:0.00EU 591
    rs2000510711,2
    C--45688086(+) AGGGCA/GCGTAC 10 A V int1 mis10--------
    rs1443929401,2
    C,F--45688166(+) ATGCCG/ACTCTT 15 /S syn12Minor allele frequency- A:0.00NA EU 5873
    rs601013691,2
    C,F--45688175(-) GTGATT/CGCCAA 15 /I syn14Minor allele frequency- C:0.01NA EU 6185
    rs1136525631,2
    C,F--45688181(+) ATCACC/ACAAAC 15 /W /C mis12Minor allele frequency- A:0.00NA EU 1323
    rs2006158741,2
    C--45688201(+) GGTCAC/TGGCGT 15 M V mis10--------
    rs1467178811,2
    C--45688218(+) AGTGAA/GCCAGC 15 A V mis10--------
    rs22296181,2
    C--45688261(-) ACCCTC/GTGGTC 15 L V mis10--------
    rs749744521,2
    C,F--45688297(+) CAGAAG/CTCATT 9 -- int11Minor allele frequency- C:0.03WA 118
    rs1898986331,2
    --45688399(+) CAGGAA/GCTTAT 9 -- int10--------
    rs1831616591,2
    --45688453(+) GCCCCA/GTCACA 9 -- int10--------
    rs1889171621,2
    --45688454(+) CCCCGC/TCACAG 9 -- int10--------
    rs1393236161,2
    --45688545(+) GCCGTA/GGCGAG 9 -- int10--------
    rs1156166841,2
    F--45688582(+) GTGGTG/TTTTCT 9 -- int11Minor allele frequency- T:0.02WA 118
    rs12560631,2
    C,F,O,A,H--45688621(-) CTCACC/TTTCTG 9 -- int122Minor allele frequency- T:0.04MN NS EA NA WA CSA 1634
    rs1923612541,2
    --45688887(+) CCTCAA/CTGAGC 9 -- int10--------
    rs1440222931,2
    --45689081(+) CTTGAG/TTCCCT 9 -- int10--------
    rs1464552691,2
    --45689138(+) AAATAC/TGTGAA 9 -- int10--------
    rs1833238601,2
    --45689164(+) GCTGAC/GTCTTG 9 -- int10--------
    rs732678441,2
    C--45689202(+) GCTCCA/GGCAAC 9 -- int12Minor allele frequency- G:0.04WA 120
    rs1886796311,2
    --45689212(+) CCACAA/GAATTT 9 -- int10--------
    rs1407026921,2
    --45689330(+) AATTAC/TGTAAG 9 -- int10--------
    rs1916478481,2
    --45689349(+) TTTGCC/TACATC 9 -- int10--------
    rs1500986851,2
    --45689521(+) ACTTGC/TCCTCC 9 -- int10--------
    rs1453996791,2
    --45689528(+) CTCCCA/CCCGCA 9 -- int10--------
    rs2015814601,2
    --45689545(+) CAAGA-/CCCCCCA 9 -- int10--------
    rs1492261831,2
    --45689592(+) AAGCAC/GATCTG 9 -- int10--------
    rs12560621,2
    C,F,O,H--45689722(-) ACTCAA/GGGCGA 9 -- int125Minor allele frequency- G:0.34NS EA NA WA CSA 2488
    rs1469083121,2
    C--45689905(+) CCATCC/GCACCC 9 -- int10--------
    rs1843253721,2
    --45689975(+) GACACC/TATGTT 9 -- int10--------
    rs1158447961,2
    F--45689984(+) TTGCCC/TCACAT 9 -- int11Minor allele frequency- T:0.01WA 118
    rs12560611,2
    C,F,O,H--45689997(-) GCAGAA/CATCCA 9 -- int129Minor allele frequency- N:0.00NS EA NA CSA WA 3290
    rs1478657041,2
    C--45690080(+) AGACC-/TTTTTT 9 -- int10--------
    rs1867942361,2
    --45690169(+) CCTCCA/GCCTCC 9 -- int10--------
    rs1392020491,2
    --45690247(+) CCAGCA/CAATTT 9 -- int10--------
    rs1417540371,2
    C--45690287(+) CCATGC/TTGGCC 9 -- int10--------
    rs1998023611,2
    --45690390(+) CCTTA-/TTTTTT 9 -- int10--------
    rs1470613421,2
    C--45690485(+) ACAGAG/TAAAAT 9 -- int10--------
    rs1481237331,2
    --45690552(+) TTTAAC/TTACCC 9 -- int10--------
    rs1915514581,2
    --45690614(+) AAGCAA/GTACTA 9 -- int10--------
    rs1168714271,2
    F--45690661(+) CTGTAC/TATGTC 9 -- int11Minor allele frequency- T:0.02EA 120
    rs1838426991,2
    --45690774(+) ACTGAC/TGAATG 9 -- int10--------
    rs133290211,2
    C,F--45690926(+) ATTTAT/GAATAA 9 -- int16Minor allele frequency- G:0.29NA WA EA 364
    rs581263001,2
    C,F--45690945(+) GAATAG/AGCAAA 9 -- int13Minor allele frequency- A:0.08NA WA 240
    rs1902655561,2
    --45690954(+) AATCCA/GTAGAG 9 -- int10--------
    rs753882191,2
    C,F--45691006(+) ATAGGG/CAGTGG 9 -- int11Minor allele frequency- C:0.10WA 118
    rs1824024971,2
    --45691068(+) TAAAAC/TTGATG 9 -- int10--------
    rs1850048341,2
    --45691187(+) TAAAAA/GTAATA 9 -- int10--------
    rs1903974971,2
    --45691215(+) AGAACA/GCCTCA 9 -- int10--------
    rs1418306841,2
    --45691264(+) TGCAAC/TGAAGT 9 -- int10--------
    rs1506219471,2
    --45691368(+) AGGGGC/TAGCAC 9 -- int10--------
    rs101442251,2
    C,F,H--45691398(+) AGTCCA/GTCAGC 9 -- int126Minor allele frequency- G:0.27NS EA NA WA CSA 2559
    rs1387323201,2
    C--45691452(+) ATATGC/TGAAAT 9 -- int10--------
    rs1461192741,2
    C--45691479(+) GGGTA-/GGGGGGG 9 -- int10--------
    rs1493155221,2
    --45691511(+) TGACTG/TACATA 9 -- int10--------
    rs9444611,2
    C,F,O,H--45691544(+) TCTCAT/CTGATC 9 -- int118Minor allele frequency- C:0.11NS EA NA 2264
    rs171017421,2
    C,F--45691573(+) CTCCCA/GGAAAA 9 -- int14Minor allele frequency- G:0.02NA WA 260
    rs1170879881,2
    C,F--45691673(+) CTCATC/AAAATA 9 -- int11Minor allele frequency- A:0.01NA 120
    rs1811871801,2
    --45691799(+) ATCCCC/TCAAAA 9 -- int10--------
    rs1462763711,2
    C--45691816(+) ACATCA/GGTTAG 9 -- int10--------
    rs1855834931,2
    --45691839(+) AACAAA/CATTAA 9 -- int10--------
    rs1392588991,2
    --45691841(+) CAAAAG/TTAAAT 9 -- int10--------
    rs1880934441,2
    C--45692046(+) GGTGGA/GGGACA 9 -- int10--------
    rs1807229311,2
    --45692207(+) GGAGCC/TGTATG 9 -- int10--------
    rs600328571,2
    C--45692217(+) GTGGCG/ATTTGC 9 -- int14Minor allele frequency- A:0.08NA WA 242
    rs1441234271,2
    C--45692272(+) TCTGTC/TACCAC 9 -- int10--------
    rs1459670221,2
    --45692273(+) CTGTCA/GCCACC 9 -- int10--------
    rs345156261,2
    C,F--45692274(+) TGTCAC/TCACCT 9 -- int13Minor allele frequency- T:0.33NA 6
    rs1861763621,2
    --45692396(+) CCCCCG/TCATCT 9 -- int10--------
    rs1918050531,2
    --45692409(+) CCTCAA/TCAGCA 9 -- int10--------
    rs1420501971,2
    --45692477(+) CTCAGA/GGGGAA 9 -- int10--------
    rs763332181,2
    C,F--45692505(+) GTCTCT/CTAATA 9 -- int12Minor allele frequency- C:0.09CSA WA 120
    rs1511359961,2
    --45692730(+) GCAAGA/GTGGCC 9 -- int10--------
    rs1401010411,2
    --45692771(+) TTTATC/TAACTA 9 -- int10--------
    rs1448777371,2
    --45693040(+) GATCAC/GACCTT 9 -- int10--------
    rs1479694821,2
    --45693054(+) TTAACA/TATTTG 9 -- int10--------
    rs1840952951,2
    --45693133(+) TCATTA/TATATA 9 -- int10--------
    rs1417382521,2
    --45693157(+) GAGCTA/GAAATT 9 -- int10--------
    rs1470963341,2
    C--45693345(+) CATACA/GCAGGA 9 -- int10--------
    rs756085551,2
    C,F--45693423(+) CCATCT/GAGCAG 9 -- int11Minor allele frequency- G:0.01NA 120
    rs1867250571,2
    --45693443(+) GCAGCA/GCTTGG 9 -- int10--------
    rs1908329621,2
    --45693511(+) CTACCC/TCCATT 9 -- int10--------
    rs1826050451,2
    --45693512(+) TACCCC/GCATTT 9 -- int10--------
    rs1381982111,2
    --45693537(+) CTTATC/TCTCCA 9 -- int10--------
    rs1870304971,2
    --45693619(+) TCTTAA/GTCTTT 9 -- int10--------
    rs1918449111,2
    --45693627(+) TTTTTA/GTTTTG 9 -- int10--------
    rs124371031,2
    C,F,H--45693638(+) CTTTCA/CTTACA 9 -- int117Minor allele frequency- C:0.06NS EA NA WA 2120
    rs1823502661,2
    --45693815(+) TCCAGC/TACACA 9 -- int10--------
    rs1878959191,2
    --45693937(+) CCCAAC/GTGCAG 9 -- int10--------
    rs80217631,2
    C,F,A--45694052(+) ACGAGG/ATCAGG 9 -- int15Minor allele frequency- A:0.44NA WA CSA 9
    rs1432988591,2
    --45694061(+) GGAGAC/TCGAGA 9 -- int10--------
    rs80030341,2
    C,F,A--45694119(+) AAAAAG/TTAGCC 9 -- int13Minor allele frequency- T:0.00WA NA CSA 5
    rs80223771,2
    C,F,A,H--45694160(+) CTACTC/GGGGAG 9 -- int14Minor allele frequency- G:0.43NA WA CSA 7
    rs128971371,2
    H--45694292(+) aaaaaA/Ggatag 9 -- int1 trp34Minor allele frequency- G:0.00NS EA 376
    rs1930800541,2
    --45694443(+) TGGACC/TCTCTG 9 -- int10--------
    rs12560601,2
    C,F,H--45694454(-) GATCAA/GTGGAA 9 -- int15Minor allele frequency- G:0.12NS NA WA EA 362
    rs1858698531,2
    --45694887(+) TTGCCC/TTTACA 9 -- int10--------
    rs1462728981,2
    --45695039(+) TAGAAC/GTTACA 9 -- int10--------
    rs727203951,2
    C,F--45695495(+) CAATGC/TACTCC 9 -- int13Minor allele frequency- T:0.15WA NA EA 358
    rs1381636111,2
    --45695519(+) AGTGAC/GACTGT 9 -- int10--------
    rs341369161,2
    C--45695528(+) GTCTC-/AAAAAA 9 -- int10--------
    rs2017683021,2
    --45695565(+) AACAA-/ACAAAAA 9 -- int10--------
    rs1999731681,2
    --45695566(+) ACAAA-/CAAAAA 9 -- int10--------
    rs1469721141,2
    C--45695567(+) CAAAC-/AA/AAC
            
    AAAAA
    15 -- int1 cds10--------
    rs2008293791,2
    C--45695569(+) ACAAA-/C/CAA 
            
    AAAAA
    15 -- int1 cds10--------
    rs1117720861,2
    C--45695573(+) AAAAAA/TATATA 9 -- int10--------
    rs2015935221,2
    C--45695574(+) AAAAA-/ATATATA 9 -- int10--------
    rs2018656891,2
    C--45695575(+) AAAAA-/A/TATATA 9 -- int10--------
    rs1505702491,2
    --45695758(+) CTTTTG/TCTTAT 9 -- int10--------
    rs1395815671,2
    --45695799(+) TCTTTC/TCTTCT 9 -- int10--------
    rs1496816451,2
    --45695815(+) GTTAGG/TCTGAG 9 -- int10--------
    rs1898994771,2
    --45695898(+) AGTATA/GTGTAA 9 -- int10--------
    rs350784141,2
    C--45695972(+) AGAAA-/AG/GA 
            
    GGTTT
    9 -- int10--------
    rs1922353701,2
    --45696082(+) GCAGGA/GAAACT 9 -- int10--------
    rs80133311,2
    C,F--45696131(+) tcactA/Gtcatg 9 -- int11Minor allele frequency- G:0.11NA 120
    rs71524841,2
    C--45696178(+) tcatcG/Tcccac 9 -- int10--------
    rs71513791,2
    C,F,A,H--45696277(+) tattcC/Attcct 9 -- int1 trp321Minor allele frequency- A:0.03NS EA NA WA 2166
    rs1884385351,2
    --45696317(+) CCAGAC/TGGTGG 9 -- int10--------
    rs1176706671,2
    C,F--45696344(+) TGGAGC/TAGTCA 9 -- int11Minor allele frequency- T:0.02NA 120
    rs1812157361,2
    C--45696391(+) TATGGG/TCATAG 9 -- int10--------
    rs1857969891,2
    C--45696395(+) GGCATA/GGTTTG 9 -- int10--------
    rs1896290701,2
    --45696518(+) CAGACA/GTAAAG 9 -- int10--------
    rs559475171,2
    C,F--45696554(+) GTACTA/CACAGA 9 -- int11Minor allele frequency- C:0.10NA 120
    rs1140644551,2
    C,F--45696758(+) TTTAGT/ACTAGG 9 -- int12Minor allele frequency- A:0.09WA EA 238
    rs1444967931,2
    C--45696804(+) GGAAGG/TCTGAG 9 -- int10--------
    rs12560591,2
    C,F,A,H--45696821(-) ctgggC/Tattgg 9 -- int125Minor allele frequency- T:0.28NS EA NA WA CSA 2706
    rs1821214831,2
    --45696878(+) CCTGGC/TCCTGT 9 -- int10--------
    rs1484018691,2
    --45696904(+) TGTTTC/TGCCCG 9 -- int10--------
    rs760225601,2
    C,F--45696905(+) GTTTCG/ACCCGC 9 -- int11Minor allele frequency- A:0.04WA 118
    rs1875966671,2
    --45696929(+) TTCTTC/TCCCTG 9 -- int10--------
    rs12560581,2
    H--45697005(-) ttggaG/Aatcta 9 -- int14Minor allele frequency- A:0.00NS EA 420
    rs1479518741,2
    --45697031(+) TCTTTA/CCCACT 9 -- int10--------
    rs1910841331,2
    --45697135(+) GTCAAA/CTTGAC 9 -- int10--------
    rs1418858121,2
    --45697145(+) CTGGAA/TAAAGG 9 -- int10--------
    rs9535921,2
    C,F,A,H--45697153(-) tgggtA/Gtccct 9 -- int17Minor allele frequency- G:0.16NS EA NA WA 642
    rs1165040951,2
    F--45697159(+) ACCCAG/AATAGC 9 -- int11Minor allele frequency- A:0.01WA 118
    rs1829272111,2
    --45697201(+) AGAGTA/GTTCCA 9 -- int10--------
    rs128839671,2
    H--45697235(+) gtggaC/Ttaagg 9 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1456818901,2
    --45697272(+) TCCCTA/GCACTT 9 -- int10--------
    rs1860977231,2
    --45697318(+) GAGTTC/TGAGAC 9 -- int10--------
    rs1900767941,2
    --45697400(+) GCCTGC/TAATCT 9 -- int10--------
    rs342887791,2
    C--45697522(+) ATCTC-/AAAAAA 9 -- int10--------
    rs1510801931,2
    C--45697610(+) TGAGTA/GCCCAG 9 -- int10--------
    rs796981761,2
    F--45697623(+) AGAACG/AAAATG 9 -- int11Minor allele frequency- A:0.01EA 120
    rs118503751,2
    C,F,H--45697781(+) ggttaC/Taccac 9 -- int117Minor allele frequency- T:0.09NS EA NA WA 2108
    rs1155506411,2
    F--45697812(+) CTTTCC/GATTTA 9 -- int11Minor allele frequency- G:0.03WA 118
    rs768694571,2
    F--45697867(+) CGCATA/CTCATG 9 -- int11Minor allele frequency- C:0.03NA 120
    rs1834255351,2
    --45697872(+) ATCATA/GTGACT 9 -- int10--------
    rs1159736861,2
    F--45697898(+) TTGTTC/TAAGTC 9 -- int11Minor allele frequency- T:0.02WA 118
    rs1875824601,2
    --45698007(+) TTGCAA/GCCTGG 9 -- int10--------
    rs795121761,2
    C,F--45698062(+) CGTTTG/CTGTCC 9 -- int12Minor allele frequency- C:0.08WA EA 238
    rs2007287841,2
    --45698166(+) CCCTA-/TTTTTT 9 -- int10--------
    rs1927705351,2
    --45698174(+) TTTTTA/TAAATT 9 -- int10--------
    rs104594521,2
    C,F,H--45698265(+) CTAGCA/GGTGAA 9 -- int111Minor allele frequency- G:0.04NS EA NA 1144
    rs1410502171,2
    C--45698377(+) CCAGGC/GGAGGG 9 -- int10--------
    rs1461515181,2
    --45698659(+) AAAAA-/GATTTC 9 -- int10--------
    rs1838068131,2
    --45698719(+) TGGTAA/GTTACA 9 -- int10--------
    rs19525851,2
    C,F,O,A,H--45698759(-) CCACAT/CTGAGA 9 -- int132Minor allele frequency- C:0.31NS EA NA WA CSA 2950
    rs744587811,2
    C,F--45698776(+) TGTCAT/CGCTGC 9 -- int11Minor allele frequency- C:0.05EA 120
    rs1876047561,2
    --45698914(+) ACTGTA/GAAGTG 9 -- int10--------
    rs1457872701,2
    --45698938(+) CAAACA/GGTGCT 9 -- int10--------
    rs12560561,2
    C,F,O,A,H--45699030(-)