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

ESRRA Gene

protein-coding   GIFtS: 66
GCID: GC11P064073

Estrogen-Related Receptor Alpha


(Previous symbol: ESRL1)
  See 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)
About This Section

Aliases
Estrogen-Related Receptor Alpha1 2 3     NR3B12 3
ESRL11 2 3 5     ERRa2
Estrogen Receptor-Like 12 3     ERRalpha2
Nuclear Receptor Subfamily 3 Group B Member 12 3     Estrogen-Related Nuclear Receptor Alpha2
ERR-alpha2 3     Steroid Hormone Receptor ERR12
ERR12 3     

External Ids:    HGNC: 34711   Entrez Gene: 21012   Ensembl: ENSG000001731537   OMIM: 6019985   UniProtKB: P114743   

Export aliases for ESRRA gene to outside databases

Previous GC identifers: GC11P066588 GC11P065754 GC11P064323 GC11P063848 GC11P063829 GC11P060400


(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 ESRRA Gene:
The protein encoded by this gene is a nuclear receptor that is closely related to the estrogen receptor. This
protein acts as a site-specific transcription regulator and has been also shown to interact with estrogen and the
transcripton factor TFIIB by direct protein-protein contact. The binding and regulatory activities of this
protein have been demonstrated in the regulation of a variety of genes including lactoferrin, osteopontin,
medium-chain acyl coenzyme A dehydrogenase (MCAD) and thyroid hormone receptor genes. A processed pseudogene of
ESRRA is located on chromosome 13q12.1. Alternatively spliced transcript variants have been found for this gene.
(provided by RefSeq, Sep 2013)

GeneCards Summary for ESRRA Gene: 
ESRRA (estrogen-related receptor alpha) is a protein-coding gene. Diseases associated with ESRRA include estrogen-receptor negative breast cancer, and endometrial carcinoma, and among its related super-pathways are Nuclear Receptors and Gene Expression. GO annotations related to this gene include steroid hormone receptor activity and sequence-specific DNA binding. An important paralog of this gene is NR3C2.

UniProtKB/Swiss-Prot: ERR1_HUMAN, P11474
Function: Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'.
Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an
important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires
dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of
energy metabolism

summary for ESRRA 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 ESRRA (Estrogen-related receptor alpha) 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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ESRRA gene promoter:
         CREB   PPAR-gamma1   deltaCREB   ATF-2   PPAR-gamma2   c-Jun   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q12

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P064073:  view genomic region     (about GC identifiers)

Start:
64,073,044 bp from pter      End:
64,084,215 bp from pter
Size:
11,172 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: ERR1_HUMAN, P11474 (See protein sequence)
Recommended Name: Steroid hormone receptor ERR1  
Size: 423 amino acids; 45510 Da
Subunit: Binds DNA as a monomer or a homodimer. Interacts (via the AF2 domain) with coactivator PPARGC1A (via the
L3 motif); the interaction greatly enhances transriptional activity of genes involved in energy metabolism.
Interacts with PIAS4; the interaction enhances sumoylation
Subcellular location: Nucleus
Sequence caution: Sequence=AAB17015.1; Type=Erroneous initiation; Sequence=CAA35778.1; Type=Frameshift;
Positions=345, 354;
4 PDB 3D structures from and Proteopedia for ESRRA:
1XB7 (3D)        2PJL (3D)        3D24 (3D)        3K6P (3D)    
Secondary accessions: Q14514
Alternative splicing: 2 isoforms:  P11474-1   P11474-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ESRRA: NX_P11474

Explore proteomics data for ESRRA at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Ser-19 enhances sumoylation on Lys-14 increasing repression of transcriptional activity
  • UniProtKB: Sumoylated with SUMO2. Main site is Lys-14 which is enhanced by phosphorylation on Ser-19, cofactor activation,
    and by interaction with PIAS4. Sumoylation enhances repression of transcriptional activiy, but has no effect on
    subcellular location nor on DNA binding
  • UniProtKB: Reversibly acetylated. Acetylation by PCAF/KAT2 at Lys-129, Lys-138, Lys-160 and Lys-162 and PCAF/KAT2 decreases
    transcriptional activity probably by inhibiting DNA-binding activity; deacetylation involves SIRT1 and HDAC8 and
    increases DNA-binding
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11474

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

    ESRRA Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001269379.1  NP_001269380.1  NP_004442.3  

    ENSEMBL proteins: 
     ENSP00000385971   ENSP00000000442   ENSP00000439896   ENSP00000384851   ENSP00000441970  
     ENSP00000444710  
    Reactome Protein details: P11474
    Human Recombinant Protein Products for ESRRA: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
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    GenScript Custom Purified and Recombinant Proteins Services for ESRRA
    Novus Biologicals ESRRA Proteins
    Novus Biologicals ESRRA Lysates
    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 TAS9286700
    GO:0005654nucleoplasm TAS--

    ESRRA for ontologies           About GeneDecksing



    ESRRA Antibody Products: 
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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-&alpha 
    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 P11474

    ProtoNet protein and cluster: P11474

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


    UniProtKB/Swiss-Prot: ERR1_HUMAN, P11474
    Similarity: Belongs to the nuclear hormone receptor family. NR3 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


    ESRRA 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: ERR1_HUMAN, P11474
    Function: Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'.
    Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an
    important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires
    dimerization and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of
    energy metabolism
    Induction: Induced by PGC1alpha in a number of specific cell types including heart, kidney and muscle

         Genatlas biochemistry entry for ESRRA:
    estrogen-related receptor A,orphan receptors family,steroid/thyroid hormone receptor superfamily,involved in the
    expression of SV40 major late promoter modulator of ESR response of lactoferrin promoter,regulator of medium
    chain acyl CoA dehydrogenase

         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:0003677DNA binding TAS9286700
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004879ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity TAS9286700
    GO:0005496steroid binding IEA--
         
    ESRRA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ESRRA:
     Increased Salmonella enterica  

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Esrra):
     adipose tissue  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  normal  skeleton 

    ESRRA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Esrratm1Vgi for ESRRA

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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ESRRA
    8/65 QIAGEN miScript miRNA Assays for microRNAs that regulate ESRRA (see all 65):
    hsa-miR-323-3p hsa-miR-642a hsa-miR-3194-5p hsa-miR-15a hsa-miR-637 hsa-miR-761 hsa-miR-4324 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidESRRA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: ESRRA (NM_004451)
    Sino Biological Human cDNA Clone for ESRRA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESRRA
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                         Customized lentivirus expression plasmids for stable overexpression of ESRRA 

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


    (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 ESRRA 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
    3PEDF Induced Signaling
    PGC1Alpha Pathway0.51
    4Mitochondrial Gene Expression
    Mitochondrial Gene Expression
    5Energy Metabolism
    Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ESRRA
        PGC1Alpha Pathway

    3 BioSystems Pathways for ESRRA
        Mitochondrial Gene Expression
    Nuclear Receptors
    Energy Metabolism


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



    ESRRA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ESRRA

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

    5/79 Interacting proteins for ESRRA (P114741, 2, 3 ENSP000000004424) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PNRC2Q9NPJ42, 3, ENSP000003348404MINT-15069 I2D: score=2 STRING: ENSP00000334840
    TRRAPQ9Y4A51, 3, ENSP000003477334EBI-372412,EBI-399128 I2D: score=2 STRING: ENSP00000347733
    PPARGC1AQ9UBK23, ENSP000002648674I2D: score=3 STRING: ENSP00000264867
    EXOSC6Q5RKV63, ENSP000003985974I2D: score=2 STRING: ENSP00000398597
    HDAC8Q9BY413, ENSP000003626744I2D: score=2 STRING: ENSP00000362674
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0010467gene expression TAS--
    GO:0030278regulation of ossification ----

    ESRRA 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

    ESRRA for compounds           About GeneDecksing

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

    Compounds for ESRRA 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]

    2 DrugBank Compounds for ESRRA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-CYCLOHEXYL-N-{[1-(4-METHYLPHENYL)-1H-INDOL-3-YL]METHYL}METHANAMINE-- --target--10592235
    Troglitazone-- 97322-87-7targetinverse agonist20298676

    5 IUPHAR Ligands for ESRRA (Estrogen-related receptor-&alpha)    About this table 
    LigandTypeActionAffinityPubmed IDs
    cyclohexylmethyl-(1-p-tolyl-1H-indol-3-ylmethyl)-amine
    Agonist6.717556356
    XCT790
    AntagonistAntagonist6.5 - 6.115184675
    genistein
    AgonistAgonist6.5 - 6.114638870
    7,4'-dihydroxyisoflavone
    AgonistAgonist6.5 - 6.114638870
    5,7-dihydroxy-4'-methoxyisoflavone
    AgonistAgonist6.5 - 6.114638870

    10/17 Novoseek inferred chemical compound relationships for ESRRA gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 77 223 16464951 (8), 12960079 (7), 18974123 (4), 15713703 (4) (see all 62)
    fulvestrant 67.5 4 16687070 (3), 17631492 (1)
    biochanin a 67.2 1 16515477 (1)
    diethylstilbestrol 51.8 1 11559547 (1)
    daidzein 48.4 1 16515477 (1)
    acetyl-coa 44.3 1 16022198 (1)
    pyruvate 43.3 1 17079227 (1)
    steroid 40.3 11 19264843 (2), 15878968 (2), 18697814 (1), 20400511 (1) (see all 8)
    genistein 35.2 1 16515477 (1)
    tamoxifen 20.9 6 20211987 (2)

    Search CenterWatch for drugs/clinical trials and news about ESRRA / ERR1

    (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,
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    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 ESRRA gene (3 alternative transcripts): 
    NM_001282450.1  NM_001282451.1  NM_004451.4  

    Unigene Cluster for ESRRA:

    Estrogen-related receptor alpha
    Hs.110849  [show with all ESTs]
    Unigene Representative Sequence: BC092470
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406310(uc001nzq.1 uc001nzr.1) ENST00000000442(uc009ypn.1)
    ENST00000539594 ENST00000405666(uc001nzs.1) ENST00000468670 ENST00000467987
    ENST00000545035
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ESRRA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ESRRA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ESRRA

    Additional mRNA sequence: 

    AB362579.1 BC007915.2 BC011528.1 BC033701.1 BC063795.1 BC073956.1 BC092470.1 BC093720.1 
    BC093722.1 HQ692867.1 L38487.1 

    19 DOTS entries:

    DT.75155335  DT.100788956  DT.92032780  DT.100796196  DT.95275489  DT.120754174  DT.100788950  DT.100788958 
    DT.100796190  DT.100038831  DT.120754141  DT.120754248  DT.40267222  DT.95130749  DT.102838738  DT.92412672 
    DT.97860417  DT.100788945  DT.100788946 

    24/828 AceView cDNA sequences (see all 828):

    BG397458 BF343659 BQ956319 BQ948248 BC007915 CR609622 AJ249483 BQ690283 
    BC073956 BM710033 BM739014 BM743173 BG744031 BG747925 BG397848 BM761434 
    BE790729 BM791802 BG757759 CD559086 BM040936 L38487 CR608340 BM747467 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ESRRA    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
    SP1:        -     -           -                                 
    SP2:                                                            
    SP3:              -           -                                 
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for ESRRA

    (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

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


    ESRRA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ/urethra of male/pelvic urethra of male   

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

    SOURCE GeneReport for Unigene cluster: Hs.110849
        SABiosciences Expression via Pathway-Focused PCR Arrays including ESRRA: 
              Circadian Rhythms in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat

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    (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 ESRRA gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Esrra1 , 5 estrogen related receptor, alpha1, 5 91.39(n)1
    98.34(a)1
      19 (5.08 cM)5
    263791  NM_007953.21  NP_031979.21 
     69109775 
    lizard
    (Anolis carolinensis)
    Reptilia ESRRA6
    Uncharacterized protein
    76(a)
    1 ↔ 1
    AAWZ02036029(186-5534)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.102092 Xenopus laevis, clone IMAGE5542776, mRNA 75.12(n)    BC044274.1 
    zebrafish
    (Danio rerio)
    Actinopterygii esrra1 estrogen-related receptor alpha 65.34(n)
    68.49(a)
      405891  NM_212955.1  NP_998120.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ERR3 ligand-dependent nuclear receptor 43(a)   66B11   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ESRRA gene
    NR3C22  PGR2  ESR22  NR3C12  AR2  ESRRB2  ESR12  ESRRG2  
    18/24 SIMAP similar genes for ESRRA using alignment to 8 protein entries:     ERR1_HUMAN (see all proteins) (see all similar genes):
    HNF4G    ESR1    AR    VDR    ERRgamma    NR3B3
    ESRRB    ESRRG    HNF4alpha    RARG    NR3C2    THRA
    NR3A2    NR3A1    NR2F1    ESR2    NR2F2    NR3C1

    ESRRA for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ESRRA
    PGOHUM00000248311 PGOHUM00000248516


    (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

    10/254 SNPs in ESRRA are shown (see all 254)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs5207101,2
    C,F--60398811(-) AATTTG/ACCTAT 1 -- us2k11Minor allele frequency- A:0.00MN 184
    rs1176294421,2
    C,F--60399001(+) TCATGG/CAGAAT 1 -- us2k12Minor allele frequency- C:0.01NA EU 711
    rs1114865311,2
    C--60399038(+) CCTCCA/GGAGTA 1 -- us2k12Minor allele frequency- G:0.33CSA 3
    rs1882300001,2
    --60399211(+) GGGCAC/GAGGAA 1 -- us2k10--------
    rs1449716171,2
    C--60399308(+) GGCTG-/GTTTTTCT 1 -- cds10--------
    rs1809339961,2
    --60399356(+) CGACTG/TCCTCT 1 -- us2k10--------
    rs6500121,2
    C,F,H--60399422(-) CTACCC/ACAGCA 1 -- us2k1 tfbs321Minor allele frequency- A:0.04MN NS NA WA CSA 1411
    rs1862889831,2
    --60399655(+) ATCTGC/TGGTTC 1 -- us2k10--------
    rs1166574341,2
    F--60399665(+) CCTCGA/GATCAC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs2005131661,2
    C--60399785(+) CTAAGA/GAGCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ESRRA (64073044 - 64084215 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ESRRA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv357CNV Insertion18451855
    nsv897685CNV Loss21882294
    dgv1168n71CNV Loss21882294
    dgv1165n71CNV Loss21882294
    dgv1166n71CNV Loss21882294
    dgv1156n71CNV Loss21882294
    nsv832186CNV Loss17160897
    dgv1163n71CNV Loss21882294
    nsv469961CNV Loss18288195

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    (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: 601998    OMIM disorders: --

    20/22 diseases for ESRRA (see all 22):    About MalaCards
    estrogen-receptor negative breast cancer    endometrial carcinoma    bone density    metabolic disorders
    endometrial adenocarcinoma    prostatitis    thyroiditis    ovarian cancer
    insulin resistance    crohn's disease    obesity    breast cancer
    astrocytoma    cervical cancer    ischemia    hypoxia
    cervicitis    endotheliitis    adenocarcinoma    lung cancer


    ESRRA for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for ESRRA gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    endometrial carcinoma 54.8 21 17068614 (4), 16681769 (3), 15968320 (2), 17010074 (2) (see all 8)
    metabolic disorder 46.9 14 15184675 (1), 18052088 (1), 19462000 (1), 16515477 (1) (see all 7)
    breast cancer 43.7 55 19138740 (6), 19622763 (5), 19429439 (4), 18974123 (3) (see all 16)
    endometrial cancer 30.3 17 16464951 (7), 17697604 (7), 19416752 (2)
    breast carcinoma 23.2 9 19491275 (3), 15231680 (3), 18974123 (1)
    insulin resistance 17.9 1 17187250 (1)
    obesity 17.1 6 16755280 (2), 15466464 (1), 16286534 (1), 15184675 (1)
    osteoporosis 13.8 5 17556356 (1), 15713703 (1)
    ovarian cancer 11.6 16 16202294 (6), 17509876 (3), 17259555 (1), 18974123 (1)
    tumors 0 25 12438245 (6), 19491275 (3), 19622763 (2), 19429439 (2) (see all 12)

    Genetic Association Database (GAD): ESRRA
    Human Genome Epidemiology (HuGE) Navigator: ESRRA (10 documents)

    Export disorders for ESRRA 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 ESRRA gene, integrated from 9 sources (see all 204):
    (articles sorted by number of sources associating them with ESRRA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a new class of steroid hormone receptors. (PubMed id 3267207)1, 2, 3 Giguere V.... Evans R.M. (1988)
    2. The orphan nuclear receptor estrogen-related receptor alpha is a transcriptional regulator of the human medium-chain acyl coenzyme A dehydrogenase gene. (PubMed id 9271417)1, 2, 9 Sladek R.... Giguere V. (1997)
    3. A frequent regulatory variant of the estrogen-related receptor alpha gene associated with BMD in French-Canadian premenopausal women. (PubMed id 15883633)1, 4, 9 Laflamme N....Rousseau F. (2005)
    4. Evidence for ligand-independent transcriptional activation of the human estrogen-related receptor alpha (ERRalpha): crystal structure of ERRalpha ligand binding domain in complex with peroxisome proliferator-activated receptor coactivator-1alpha. (PubMed id 15337744)1, 2, 9 Kallen J....Fournier B. (2004)
    5. The transcriptional coactivator PGC-1 regulates the expression and activity of the orphan nuclear receptor estrogen-related receptor alpha (ERRalpha). (PubMed id 12522104)1, 2, 9 Schreiber S.N.... Kralli A. (2003)
    6. A single nucleotide in an estrogen-related receptor alpha site can dictate mode of binding and peroxisome proliferator-activated receptor gamma coactivator 1alpha activation of target promoters. (PubMed id 16150865)1, 2, 9 Barry J.B.... Giguere V. (2006)
    7. Genetic analysis of the estrogen-related receptor alpha and studies of association with obesity and type 2 diabetes. (PubMed id 16755280)1, 4, 9 Larsen L.H....Pedersen O. (2007)
    8. An acetylation switch modulates the transcriptional a ctivity of estrogen-related receptor alpha. (PubMed id 20484414)1, 2 Wilson B.J....GiguA"re V. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (2009)

    (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: 2101 HGNC: 3471 AceView: ESRRAandPRDX5 Ensembl:ENSG00000173153 euGenes: HUgn2101
    ECgene: ESRRA H-InvDB: ESRRA

    (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 ESRRA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ESRRA Genetics and Cytogenetics in Oncology and Haematology

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

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



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    About This Section

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