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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ESRRB Gene

protein-coding   GIFtS: 65
GCID: GC14P076837

Estrogen-Related Receptor Beta

(Previous names: deafness, autosomal recessive 35)
(Previous symbols: ESRL2, DFNB35)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Estrogen-Related Receptor Beta1 2 3     ERR22
ESRL21 2 3 5     ERRb2
DFNB351 2 5     ERRbeta-22
Estrogen Receptor-Like 22 3     Estrogen-Related Nuclear Receptor Beta2
Nuclear Receptor Subfamily 3 Group B Member 22 3     Nuclear Receptor ERRB22
ERR-beta2 3     Orphan Nuclear Receptor2
NR3B22 3     Steroid Hormone Receptor ERR22
ERR Beta-22 3     ERRB23
Deafness, Autosomal Recessive 351     

External Ids:    HGNC: 34731   Entrez Gene: 21032   Ensembl: ENSG000001197157   OMIM: 6021675   UniProtKB: O957183   

Export aliases for ESRRB gene to outside databases

Previous GC identifers: GC14P074343 GC14P070654 GC14P074827 GC14P075907 GC14P057006


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ESRRB Gene:
This gene encodes a protein with similarity to the estrogen receptor. Its function is unknown; however, a similar
protein in mouse plays an essential role in placental development. (provided by RefSeq, Jul 2008)

GeneCards Summary for ESRRB Gene: 
ESRRB (estrogen-related receptor beta) is a protein-coding gene. Diseases associated with ESRRB include dfnb35 nonsyndromic hearing loss and deafness, and deafness, autosomal recessive 35, and among its related super-pathways are Nuclear Receptors and Gene Expression. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding. An important paralog of this gene is ESRRA.

UniProtKB/Swiss-Prot: ERR2_HUMAN, O95718
Function: Nuclear receptor, may regulate ESR1 transcriptional activity

summary for ESRRB 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 ESRRB (Estrogen-related 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ESRRB gene promoter:
         c-Fos   Pax-5   AP-1   JunB   Fra-1   FosB   c-Rel   JunD   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidESRRB promoter sequence
   Search SABiosciences Chromatin IP Primers for ESRRB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ESRRB


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P076837:  view genomic region     (about GC identifiers)

Start:
76,776,957 bp from pter      End:
76,968,180 bp from pter
Size:
191,224 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ERR2_HUMAN, O95718 (See protein sequence)
Recommended Name: Steroid hormone receptor ERR2  
Size: 508 amino acids; 56208 Da
Subunit: Binds DNA as a monomer
Subcellular location: Nucleus (Potential)
1 PDB 3D structure from and Proteopedia for ESRRB:
1LO1 (3D)    
Secondary accessions: A2VDJ2 B6ZGU4 Q5F0P7 Q5F0P8 Q9HCB4
Alternative splicing: 3 isoforms:  O95718-1   O95718-2   O95718-3   

Explore the universe of human proteins at neXtProt for ESRRB: NX_O95718

Explore proteomics data for ESRRB at MOPED 

Post-translational modifications:

  • UniProtKB: Acetylated by PCAF/KAT2 (in vitro)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95718

  • ESRRB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ESRRB Protein Expression
    REFSEQ proteins: NP_004443.3  
    ENSEMBL proteins: 
     ENSP00000424992   ENSP00000423004   ENSP00000422488   ENSP00000451658   ENSP00000370270  
     ENSP00000261532  
    Reactome Protein details: O95718
    Human Recombinant Protein Products for ESRRB: 
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    Novus Biologicals ESRRB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--

    ESRRB for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Estrogen-related receptor-&beta 
    3B. Estrogen-related receptors

    5/7 InterPro protein domains (see all 7):
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR001723 Str_hrmn_rcpt
     IPR027289 Oest-rel_rcp
     IPR024178 Oest_rcpt/oest-rel_rcp
     IPR013088 Znf_NHR/GATA

    Graphical View of Domain Structure for InterPro Entry O95718

    ProtoNet protein and cluster: O95718

    2 Blocks protein domains:
    IPB000003 Retinoic acid receptor signature
    IPB001723 Steroid hormone receptor signature


    UniProtKB/Swiss-Prot: ERR2_HUMAN, O95718
    Similarity: Belongs to the nuclear hormone receptor family. NR3 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    ESRRB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERR2_HUMAN, O95718
    Function: Nuclear receptor, may regulate ESR1 transcriptional activity

         Genatlas biochemistry entry for ESRRB:
    estrogen-related receptor B,widely expressed,orphan receptor family,steroid/thyroid hormone receptor
    superfamily,repressing glucocorticoid receptor activity in a cell specific fashion

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0003713transcription coactivator activity ISS--
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS9344655
         
    ESRRB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ESRRB:
     Decreased Hepatitis C virus re  Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Esrrb):
     behavior/neurological  embryogenesis  growth/size  hearing/vestibular/ear  mortality/aging 
     no phenotypic analysis 

    ESRRB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ESRRB: Esrrbtm1.2Nat Esrrbtm1Vgi

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ESRRB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ESRRB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ESRRB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ESRRB 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ESRRB
    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate ESRRB (see all 20):
    hsa-miR-520f hsa-miR-607 hsa-miR-631 hsa-miR-3653 hsa-miR-578 hsa-miR-520a-5p hsa-miR-3661 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidESRRB 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for ESRRB
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of ESRRB 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESRRB


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ESRRB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.68
    Nuclear Receptors0.68
    2Generic Transcription Pathway
    Gene Expression0.47
    Generic Transcription Pathway0.47
    3Wnt Signaling Pathway
    Wnt Signaling Pathway and Pluripotency0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ESRRB
        Wnt Signaling Pathway and Pluripotency
    Nuclear Receptors

    3        Reactome Pathways for ESRRB
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression



    ESRRB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ESRRB

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

    5/44 Interacting proteins for ESRRB (O957183 ENSP000002615324) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NANOGQ9H9S03I2D: score=2 
    NR0B1P518433I2D: score=1 
    ESR1ENSP000002062494STRING: ENSP00000206249
    ESR2ENSP000003439254STRING: ENSP00000343925
    ESRRAENSP000000004424STRING: ENSP00000000442
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development ----
    GO:0001831trophectodermal cellular morphogenesis IEA--
    GO:0001834trophectodermal cell proliferation IEA--
    GO:0001892NOT embryonic placenta development NAS19196830
    GO:0006351transcription, DNA-dependent ----

    ESRRB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ESRRB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ESRRB 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]

    5 IUPHAR Ligands for ESRRB (Estrogen-related receptor-&beta)    About this table 
    LigandTypeActionAffinityPubmed IDs
    diethylstilbestrol
    Antagonist5.3 - 4.811297507
    genistein
    AgonistAgonist5.3 - 4.814638870
    7,4'-dihydroxyisoflavone
    AgonistAgonist5.3 - 4.814638870
    DY131
    AgonistAgonist5.3 - 4.815713377
    5,7-dihydroxy-4'-methoxyisoflavone
    AgonistAgonist5.3 - 4.814638870

    10/39 Novoseek inferred chemical compound relationships for ESRRB gene (see all 39)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nor 1 86.7 7 12529383 (1), 16339277 (1), 17545802 (1), 18680143 (1) (see all 7)
    androstane 78.4 10 12167558 (1), 17483497 (1), 20197307 (1), 11278292 (1) (see all 10)
    estrogen 62.6 82 18775884 (3), 16332939 (2), 9344655 (2), 10428965 (2) (see all 37)
    steroid 58.9 25 11581012 (2), 7849260 (1), 11891851 (1), 15645014 (1) (see all 22)
    4-hydroxytamoxifen 58.1 1 17047084 (1)
    retinoic acid 55 9 15781255 (1), 15013753 (1), 10406466 (1), 14741380 (1) (see all 8)
    pregnane 49 2 15792627 (1), 16054614 (1)
    retinoid 47.2 5 12168086 (1), 9030682 (1), 9344655 (1), 10940306 (1)
    chenodeoxycholic acid 44.9 2 10334993 (1), 10360171 (1)
    3beta-hydroxysteroid 44.9 1 15666793 (1)

    Search CenterWatch for drugs/clinical trials and news about ESRRB / ERR2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ESRRB gene: 
    NM_004452.3  

    Unigene Cluster for ESRRB:

    Estrogen-related receptor beta
    Hs.435845  [show with all ESTs]
    Unigene Representative Sequence: NM_004452
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512784 ENST00000505752 ENST00000507951 ENST00000509242 ENST00000556177(uc001xsq.1)
    ENST00000509323 ENST00000380887(uc001xsr.3 uc001xso.3) ENST00000261532


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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate ESRRB (see all 20):
    hsa-miR-520f hsa-miR-607 hsa-miR-631 hsa-miR-3653 hsa-miR-578 hsa-miR-520a-5p hsa-miR-3661 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidESRRB 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESRRB
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    Additional mRNA sequence: 

    AB307714.1 AK096020.1 AY451389.1 AY451390.1 BC131517.1 HQ692852.1 

    6 DOTS entries:

    DT.97765164  DT.91760932  DT.91747440  DT.120749448  DT.409345  DT.97769384 

    22 AceView cDNA sequences:

    AK096020 BQ640224 BM713581 BG205196 AI337554 BM662795 BG197436 AA016239 
    BM688671 BX509768 CF551824 NM_004452 BU727041 BE463616 AA017481 W26858 
    AW592762 H91890 AF094517 H91842 H82543 H82542 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ESRRB    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
    SP1:                                      -                           
    SP2:                                      -     -                     
    SP3:                                                                  


    ECgene alternative splicing isoforms for ESRRB

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ESRRB expression in normal human tissues (normalized intensities)      ESRRB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCTGGAAT
    ESRRB Expression
    About this image


    ESRRB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Extraembryonic Ectoderm Cells Extraembryonic Ectoderm
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Inner Cell Mass (Early Embryonic Tissues)
             Sox17-GFP genetically modified stem cells
     
     Chorion (Extraembryonic Tissues)
             Chorionic Ectoderm Cells Chorion Bilayer

    See ESRRB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ESRRB

    SOURCE GeneReport for Unigene cluster: Hs.435845
        SABiosciences Expression via Pathway-Focused PCR Array including ESRRB: 
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ESRRB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ESRRB

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ESRRB gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Esrrb1 , 5 estrogen related receptor, beta1, 5 88.76(n)1
    93.07(a)1
      12 (40.49 cM)5
    263801  NM_011934.41  NP_036064.31 
     863611175 
    chicken
    (Gallus gallus)
    Aves ESRRB1 estrogen-related receptor beta 83.45(n)
    90.76(a)
      771938  XM_001235146.1  XP_001235147.1 
    lizard
    (Anolis carolinensis)
    Reptilia ESRRB6
    estrogen-related receptor beta
    91(a)
    1 ↔ 1
    1(21554050-21745117)
    zebrafish
    (Danio rerio)
    Actinopterygii BM071680.12   -- 75.09(n)    BM071680.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ERR1 , 3 ligand-dependent nuclear receptor3
    estrogen-related receptor1
    45(a)3
    52.12(n)1
    49.49(a)1
      66B113
    389121  NM_139926.21  NP_648183.31 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ESRRB gene
    ESRRA2  NR3C22  PGR2  ESR22  NR3C12  AR2  ESR12  ESRRG2  
    18/36 SIMAP similar genes for ESRRB using alignment to 2 protein entries:     ERR2_HUMAN (see all proteins) (see all similar genes):
    ERRgamma    NR3B3    NR3C2    ESRRG    NR2C2    VDR
    ESRRA    ESR1    HNF4alpha    NR6A1    RORA    THRB
    NR1I3    ESR2    HNF4G    NR3A1    NR3A2    NR2F2

    ESRRB for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2992 SNPs in ESRRB are shown (see all 2992)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0435064
    Deafness, autosomal recessive, 35 (DFNB35)4--see VAR_0435062 L P mis40--------
    VAR_0435054
    Deafness, autosomal recessive, 35 (DFNB35)4--see VAR_0435052 V L mis40--------
    VAR_0435034
    Deafness, autosomal recessive, 35 (DFNB35)4--see VAR_0435032 A V mis40--------
    VAR_0435044
    Deafness, autosomal recessive, 35 (DFNB35)4--see VAR_0435042 L P mis40--------
    VAR_0435084
    ----see VAR_0435082 T M mis40--------
    rs1828603941,2
    C--57048821(+) TCCCCC/TGCCCC 1 -- int10--------
    rs1856118821,2
    --57048974(+) TGCACC/GGTCCC 1 -- int10--------
    rs1900243731,2
    --57049010(+) GCACCA/GTCCCT 1 -- int10--------
    rs1822792081,2
    --57049021(+) CGCCCC/GTGCAC 1 -- int10--------
    rs1134037001,2
    C--57055479(+) TGTGAGTGT/-  
            
    GTGTG
    1 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for ESRRB (76776957 - 76968180 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for ESRRB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2748886CNV Deletion23290073
    esv2668696CNV Deletion23128226
    nsv507762CNV Insertion20534489
    esv32586CNV Loss17666407
    nsv902102CNV Gain21882294


    Human Gene Mutation Database (HGMD): ESRRB
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ESRRB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602167   
    OMIM disorders: 608565  
    UniProtKB/Swiss-Prot: ERR2_HUMAN, O95718
  • Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565]: A form of non-syndromic deafness characterized
    by non-progressive, prelingual hearing loss. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/40 diseases for ESRRB (see all 40):    About MalaCards
    dfnb35 nonsyndromic hearing loss and deafness    deafness, autosomal recessive 35    myxoid chondrosarcoma    extraskeletal myxoid chondrosarcoma
    chondrosarcoma    ovarian epithelial cancer    nonsyndromic hearing loss and deafness, autosomal recessive    kallmann syndrome
    estrogen-receptor negative breast cancer    addison's disease    ovarian endometriosis    hypogonadotropism
    nonsyndromic deafness    prostatitis    endometriosis    endometrial adenocarcinoma
    hypogonadism    sensorineural hearing loss    parkinson's disease    hepatitis b

    1 disease from the University of Copenhagen DISEASES database for ESRRB:
    Nonsyndromic deafness

    ESRRB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/17 Novoseek inferred disease relationships for ESRRB gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    addisons disease 68.9 6 9032275 (1), 17054473 (1), 11427738 (1), 15464421 (1) (see all 6)
    adrenal hypoplasia, congenital 55.2 2 12536356 (1), 11738790 (1)
    kallmann syndrome 32.1 1 12536356 (1)
    chondrosarcoma 22.7 2 17545802 (1), 18680143 (1)
    breast cancer 17.9 4 17047084 (1), 19622763 (1), 19746521 (1), 11559547 (1)
    ewings sarcoma 11.7 1 12459554 (1)
    hypoplasia 7.9 3 15044589 (1), 12610109 (1), 18417736 (1)
    carcinoma embryonal 5.66 1 10524192 (1)
    obesity 1.52 3 16286534 (1), 12536356 (1), 17532527 (1)
    endometrial cancer 0.42 1 11861507 (1)

    Genetic Association Database (GAD): ESRRB
    Human Genome Epidemiology (HuGE) Navigator: ESRRB (3 documents)

    Export disorders for ESRRB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ESRRB gene, integrated from 9 sources (see all 397):
    (articles sorted by number of sources associating them with ESRRB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. (PubMed id 18179891)1, 2, 3 Collin R.W.J.... Kremer H. (2008)
    2. Identification and characterization of two novel splicing isoforms of human estrogen-related receptor beta. (PubMed id 16332939)1, 2, 9 Zhou W....Lubahn D.B. (2006)
    3. Chromosomal mapping of the human and murine orphan receptors ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel human ERRalpha-related pseudogene. (PubMed id 9344655)1, 3, 9 Sladek R....Giguere V. (1997)
    4. Modulation of ER alpha transcriptional activity by th e orphan nuclear receptor ERR beta and evidence for differential effects of lon g- and short-form splice variants. (PubMed id 19755138)1, 2, 9 Bombail V....Saunders P.T. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Inherited genetic variant predisposes to aggressive b ut not indolent prostate cancer. (PubMed id 20080650)1, 4 Xu J....Isaacs W.B. (2010)
    7. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    8. Monomeric complex of human orphan estrogen related receptor-2 with DNA: a pseudo-dimer interface mediates extended half-site recognition. (PubMed id 12654265)1, 2 Gearhart M.D.... Wright P.E. (2003)
    9. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    10. Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR. (PubMed id 10072763)1, 2 Chen F.... Caskey C.T. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2103 HGNC: 3473 AceView: ESRRB Ensembl:ENSG00000119715 euGenes: HUgn2103
    ECgene: ESRRB H-InvDB: ESRRB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ESRRB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ESRRB gene:
    Search GeneIP for patents involving ESRRB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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