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

ESRRB Gene

protein-coding   GIFtS: 63
GCID: GC14P076837

estrogen-related receptor beta

(Previous names: deafness, autosomal recessive 35 )
(Previous symbols: ESRL2, DFNB35)
 Explore 41 diseases affiliated with
ESRRB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ESRRB    

Aliases
for ESRRB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Estrogen-Related Receptor Beta1 2 3     ERR Beta-22 3
ESRL21 2 3 5     ERRbeta1
NR3B21 2 3     Deafness, Autosomal Recessive 351
DFNB351 2 5     ERRbeta-22
ERR21 2     Estrogen-Related Nuclear Receptor Beta2
ERRb1 2     Nuclear Receptor ERRB22
Estrogen Receptor-Like 22 3     Orphan Nuclear Receptor2
Nuclear Receptor Subfamily 3 Group B Member 22 3     Steroid Hormone Receptor ERR22
ERR-Beta1     ERRB23

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


Summaries
for ESRRB gene

(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:
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)

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

summary for ESRRB:
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)


Genomic Views
for ESRRB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
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 plasmid: ESRRB 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

Proteins
for ESRRB gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95718

    • ESRRB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004443.3  
    ENSEMBL proteins: 
     ENSP00000424992   ENSP00000423004   ENSP00000422488   ENSP00000451658   ENSP00000370270  
     ENSP00000261532  
    Reactome Protein details: O95718
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: ESRRB
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    Novus Biologicals ESRRB Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ESRRB

    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



    ESRRB Antibody Products: 
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    Uscn Antibodies for ESRRB
    ThermoFisher Antibody for ESRRB

    Assay Products for ESRRB: 
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    Uscn ELISAs and CLIAs for ESRRB

    Protein Domains /
    Families
    for ESRRB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ESRRB for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    Function
    for ESRRB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: ESRRB
    Browse MicroRNA Expression Plasmids
    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 plasmid: ESRRB 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ESRRB (see all 6)
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESRRB

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ESRRB (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ESRRB (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ESRRB (NM_004452)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESRRB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESRRB 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for ESRRB
    Search LifeMap BioReagents cell lines for ESRRB

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

    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    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


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

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


    Pathways & Interactions
    for ESRRB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    2Nuclear Receptor transcription pathway
    		Nuclear Receptor transcription pathway1.00
    		Nuclear Receptors0.68
    3Wnt Signaling Pathway
    		Wnt Signaling Pathway and Pluripotency0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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



    Drugs & Compounds
    for ESRRB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
    DY131Agonist selective for estrogen-related receptors ERRbeta and ERRgamma[95167-41-2]
    GSK 4716Selective ERRgamma and ERRbeta agonist[101574-65-6]
    10/39 Novoseek 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 

    Transcripts
    for ESRRB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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


    miRNA
    Products:             		 OriGene 3'-UTR Clone: ESRRB
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: ESRRB 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ESRRB (see all 6)
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ESRRB
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ESRRB (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ESRRB (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ESRRB (NM_004452)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ESRRB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESRRB 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ESRRB
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ESRRB
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ESRRB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ESRRB

    Additional cDNA 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:

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

    Expression
    for ESRRB gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATCTGGAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ESRRB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    ChorionChorion BilayerChorionic Ectoderm CellsExtraembryonic Tissues, Placenta
    TrophoblastExtraembryonic EctodermExtraembryonic Ectoderm CellsExtraembryonic Tissues, Placenta
    TrophoblastTrophoblastTrophoblast CellsExtraembryonic Tissues
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)Extraembryonic Tissues
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Epiblast-like cells (Reconstitution of mo...)

    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
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ESRRB
    Browse OriGene validated miRNA SYBR primer pairs
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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
    for ESRRB gene

    (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 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 91(a)
    		 1 ↔ 1
    		 1(21558980-21607367)
    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
    for ESRRB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ESRRB gene
    ESRRA2  RXRG2  PGR2  ESR22  HNF4G2  NR2F62  NR2E12  ESRRG2  
    NR3C22  RXRA2  NR2F12  NR3C12  NR2F22  AR2  ESR12  NR2C12  
    HNF4A2  NR2C22  RXRB2  
    18/40 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



    Genomic Variants
    for ESRRB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2519 NCBI SNPs in ESRRB are shown (see all 2519)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs116263821,2
    		C,F,A,H,--57004303(+) agctgG/Agacta 1 -- us2k15Minor allele frequency- A:0.29NA 128
    rs766669161,2
    		F,--57004728(+) TGTGTG/CTGCTG 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1152347651,2
    		C,F,--57005760(+) AATCTA/CTGGTA 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs802654481,2
    		F,--57005898(+) GATAAC/TGAAAT 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs768511331,2
    		F,--57006010(+) GAGCCT/GTCTTG 1 -- us2k11Minor allele frequency- G:0.02WA 118
    rs768055451,2
    		C,F,--57006206(+) CTCCAC/TACCCC 1 -- us2k11Minor allele frequency- T:0.06NA 120
    rs1114460271,2
    		--57006244(+) GGTCCG/ACAGAG 1 -- ut511Minor allele frequency- A:0.50CSA 2
    rs799486981,2
    		F,--57006289(+) CCCATG/AGAGCA 1 -- ut511Minor allele frequency- A:0.04WA 118
    rs740698301,2
    		C,--57006990(+) ACGAGA/TCTGCT 1 -- int12Minor allele frequency- T:0.04WA 120
    rs101304171,2
    		C,F,A,--57007073(+) AAGGGC/TGGGTG 1 -- int11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for ESRRB (76776957 - 76968180 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ESRRB
         1 CNV: 7040
    Human Gene Mutation Database (HGMD): ESRRB

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    DNA2.0 Custom Variant and Variant Library Synthesis for ESRRB

    Disorders / Diseases
    for ESRRB gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ESRRB for disorders           About GeneDecksing

    OMIM gene information: 602167   
    OMIM disorders: 608565  
    UniProtKB/Swiss-Prot: ERR2_HUMAN, O95718
  • Defects in ESRRB are the cause of deafness autosomal recessive type 35 (DFNB35) [MIM:608565]. DFNB35 is a form
    • of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear,
    the nerve pathways to the brain, or the area of the brain that receives sound information

    20/41 diseases for ESRRB (see all 41):    About MalaCards
    deafness, autosomal recessive 35    dosage-sensitive sex reversal    estrogen-receptor negative breast cancer    extraskeletal myxoid chondrosarcoma
    sex reversal    myxoid chondrosarcoma    adrenal hypoplasia    prostatitis
    kallmann syndrome    hearing loss    addison's disease    chondrosarcoma
    neurodegenerative disease    insulin resistance    hepatitis b    metabolic disorders
    hypogonadotropism    parkinson's disease    endometrial cancer    ovarian endometriosis

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

    10/17 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ESRRB (3 documents)

    Export disorders for ESRRB gene to outside databases

    Publications
    for ESRRB gene

    (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 395):
    (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. 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)
    6. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    7. Identification of two hERR2-related novel nuclear receptors utilizing bioinformatics and inverse PCR. (PubMed id 10072763)1, 2 Chen F.... Caskey C.T. (1999)
    8. Identification of a new class of steroid hormone receptors. (PubMed id 3267207)1, 3 Giguere V.... Evans R.M. (1988)
    9. Estrogen receptor related beta is expressed in human endometrium throughout the normal menstrual cycle. (PubMed id 18775884)1, 9 Bombail V....Saunders P.T. (2008)
    10. ERRbeta: a potent inhibitor of Nrf2 transcriptional activity. (PubMed id 17920186)1, 9 Zhou W....Lubahn D.B. (2007)

    External Searches for ESRRB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing ESRRB gene

    (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

    Other Databases showing ESRRB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ESRRB gene

    (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

    Intellectual Property
    for ESRRB gene

    (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:
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