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

NR2C1 Gene

protein-coding   GIFtS: 60
GCID: GC12M095414

nuclear receptor subfamily 2, group C, member 1


(Previous symbol: TR2)
 Explore 14 diseases affiliated with
NR2C1 via our new
 Human Malady Compendium 
Biological research products
for NR2C1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nuclear Receptor Subfamily 2, Group C, Member 11 2     Nuclear Receptor Subfamily 2 Group C Member 12
TR21 2 3     Nuclear Receptor Subfamily 2, Group C Isoform2
Orphan Nuclear Receptor TR22 3     TR2 Nuclear Hormone Receptor2
TR2-111     Testicular Receptor 23

External Ids:    HGNC: 79711   Entrez Gene: 71812   Ensembl: ENSG000001207987   OMIM: 6015295   UniProtKB: P130563   

Export aliases for NR2C1 gene to outside databases

Previous GC identifers: GC12P094483 GC12P9G0092 GC12M095348 GC12M093918 GC12M092481


(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 NR2C1:
This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable
hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the
steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible
transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target
genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of
these variants has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NR2C1_HUMAN, P13056
Function: Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative
feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs)
consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the
DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also
activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of
retinoic acid-regulated preadipocyte proliferation

Gene Wiki entry for NR2C1 (Testicular receptor 2)


(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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NR2C1 gene promoter:
         SRF   p53   SRF (504 AA)   Egr-1   Pax-2   Pax-2a   RORalpha2   PPAR-alpha   Pax-2b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNR2C1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NR2C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NR2C1


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

Entrez Gene cytogenetic band: 12q22   Ensembl cytogenetic band:  12q22   HGNC cytogenetic band: 12q22

NR2C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NR2C1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M095414:  view genomic region     (about GC identifiers)

Start:
95,414,057 bp from pter      End:
95,467,479 bp from pter
Size:
53,423 bases      Orientation:
minus strand

(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: NR2C1_HUMAN, P13056 (See protein sequence)
Recommended Name: Nuclear receptor subfamily 2 group C member 1  
Size: 603 amino acids; 67315 Da
Subunit: Homodimer (By similarity). Heterodimer; binds DNA as a heterodimer with NR2C2 required for chromatin
remodeling and for binding to promoter regions such as globin DR1 repeats (By similarity). Interacts with NRIP1 (via
its LXXLL motifs); the interaction provides corepressor activity. Interacts with HDAC3 (via the DNA-binding domain).
Interacts with HDAC4 (via the DNA-binding domain). Interacts with PIAS1; the interaction is required for sumoylation
of NR2C1. Interacts with UBE2I; the interaction is required for sumoylation of NR2C1. Interacts with KAT2B; the
interaction acts as a corepressor of gene expression (By similarity). Interacts with ESR1; the interaction prevents
homodimerization of ESR1 and suppresses its transcriptional activity and cell growth
Subcellular location: Nucleus (By similarity). Nucleus, PML body (By similarity). Note=Recruited by HDAC3, after
all-trans retinoic acid stimulated MAPK1-mediated Thr-223 phosphorylation, to PML bodies for subsequent sumoylation
(By similarity)
Secondary accessions: A8K5K4 Q15625 Q15626
Alternative splicing: 3 isoforms:  P13056-1   P13056-2   P13056-3   

Explore the universe of human proteins at neXtProt for NR2C1: NX_P13056

Post-translational modifications:

  • Sumoylation requires both PIAS1 and UBE2I. Sumoylation appears to dissociate NR2C1 from the PML nuclear bodies.
  • Enhances the interaction with NRIP1 but inhibits interaction with KAT2B. In proliferating cells, stimulation by
    all-trans retinoic acid, activation of MAPK1-mediated phosphorylation and recruitment to PML bodies with subsequent
    sumoylation, suppresses OCT4 expression (By similarity)1
  • Phosphorylated on several serine and threonine residues. Phosphorylation on Thr-222, stimulated by all-trans retinoic
  • acid (atRA) mediates PML location and sumoylation in proliferating cells which then modulates its association with
    effector molecules, KAT2B and NRIP1. Phosphorylation on Ser-581 by PKC is important for protein stability and function
    as activator of RARB (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13056

  • NR2C1 Protein expression data from MOPED and PaxDb:    About this image 
    NR2C1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001027458.1  NP_001120834.1  NP_003288.2  

    ENSEMBL proteins: 
     ENSP00000450225   ENSP00000333275   ENSP00000446817   ENSP00000376813   ENSP00000328843  
     ENSP00000446906  
    Reactome Protein details: P13056
    Human Recombinant Protein Products for NR2C1: 
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    Uscn Proteins for NR2C1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0016605PML body IEA--

    NR2C1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NR2C1


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

    NR2C1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR013088 Znf_NHR/GATA
     IPR008946 Nucl_hormone_rcpt_ligand-bd
     IPR000536 Nucl_hrmn_rcpt_lig-bd_core
     IPR001628 Znf_hrmn_rcpt
     IPR001723 Str_hrmn_rcpt

    Graphical View of Domain Structure for InterPro Entry P13056

    ProtoNet protein and cluster: P13056

    UniProtKB/Swiss-Prot: NR2C1_HUMAN, P13056
    Similarity: Belongs to the nuclear hormone receptor family. NR2 subfamily
    Similarity: Contains 1 nuclear receptor DNA-binding domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NR2C1_HUMAN, P13056
    Function: Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative
    feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs)
    consisting of two 5'-AGGTCA-3' half site direct repeat consensus sequences. Together with NR2C2, forms the core of the
    DRED (direct repeat erythroid-definitive) complex that represses embryonic and fetal globin transcription. Also
    activator of OCT4 gene expression. May be involved in stem cell proliferation and differentiation. Mediator of
    retinoic acid-regulated preadipocyte proliferation

         Genatlas biochemistry entry for NR2C1:
    nuclear receptor subfamily 2,group C,member 1,expressed in testis and prostate,steroid/thyroid hormone receptor
    superfamily,with several alternative isoforms

         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 TAS3421977
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003707steroid hormone receptor activity IEA--
    GO:0004872receptor activity TAS3421977
    GO:0005515protein binding IPI12093804
         
    NR2C1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NR2C1:
     Synthetic lethal with c-Myc af 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nr2c1):
     hematopoietic system  normal 

    NR2C1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NR2C1 

    miRNA
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    8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate NR2C1 (see all 41):
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    (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
    2Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity1.00
    3Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I1.00
    4Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for NR2C1 
        Signaling events mediated by HDAC Class I
    Regulation of Androgen receptor activity

    3        Reactome Pathways for NR2C1
        Generic Transcription Pathway
    Nuclear Receptor transcription pathway
    Gene Expression



    NR2C1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NR2C1

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

    5/61 Interacting proteins for NR2C1 (P130562, 3 ENSP000003332754) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUDT3O959892, 3, ENSP000003516504MINT-8264880 I2D: score=2 STRING: ENSP00000351650
    NRIP1P485523, ENSP000003272134I2D: score=4 STRING: ENSP00000327213
    HDAC3O153793, ENSP000003029674I2D: score=3 STRING: ENSP00000302967
    HDAC4P565243, ENSP000002646064I2D: score=3 STRING: ENSP00000264606
    ARP102753, ENSP000003638224I2D: score=2 STRING: ENSP00000363822
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0010467gene expression TAS--
    GO:0043401steroid hormone mediated signaling pathway ----
    GO:0045892negative regulation of transcription, DNA-dependent ----

    NR2C1 for ontologies           About GeneDecksing



    (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

    NR2C1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NR2C1
    5 Novoseek chemical compound relationships for NR2C1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 57.7 19 19131575 (2), 10766818 (2), 19204783 (2), 12615366 (1)
    steroid 37.7 6 11358973 (2), 12949936 (1), 8016112 (1), 10855696 (1) (see all 5)
    chloramphenicol 25.1 1 9704574 (1)
    testosterone 1.76 4 12949936 (2), 9879671 (1)
    estrogen 0 3 12093804 (1), 9879671 (1)

    Search CenterWatch for drugs/clinical trials and news about NR2C1 

    (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, Sirion Biotech, 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 NR2C1 gene (3 alternative transcripts): 
    NM_001032287.2  NM_001127362.1  NM_003297.3  

    Unigene Cluster for NR2C1:

    Nuclear receptor subfamily 2, group C, member 1
    Hs.108301  [show with all ESTs]
    Unigene Representative Sequence: NM_003297
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551647 ENST00000552861 ENST00000333003(uc001tdm.4 uc010suu.1)
    ENST00000549617 ENST00000546416 ENST00000547594 ENST00000552484 ENST00000545833
    ENST00000552791 ENST00000393101(uc001tdn.4) ENST00000330677(uc001tdo.4)
    ENST00000548252 ENST00000546367 ENST00000548966 ENST00000552417 ENST00000551386
    ENST00000549482 ENST00000547469

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    hsa-miR-124* hsa-miR-323-3p hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-3194-5p hsa-miR-106a
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    Additional cDNA sequence: 

    AB307707.1 AK291319.1 BC026074.1 BC040141.1 JQ308177.1 JQ308178.1 M21985.1 M29959.1 
    M29960.1 

    18 DOTS entries:

    DT.99938703  DT.95372907  DT.100794052  DT.100794055  DT.91752983  DT.103246  DT.86846664  DT.121179420 
    DT.91752985  DT.91752986  DT.100794054  DT.95248466  DT.97840201  DT.121179411  DT.121179462  DT.85104260 
    DT.97819831  DT.433448 

    24/147 AceView cDNA sequences (see all 147):

    AW021046 AL513888 AI080515 AA300579 AA373148 AL525589 AW008437 BU616009 
    BQ028119 CR590188 AI050052 AU279608 CA310258 BU688702 BM998591 AA953009 
    BM557938 BM272208 CB154735 AU127636 BC040141 AU130255 AU280557 BM678635 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for NR2C1 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^
    SP1:                                                        -     -                                                                       -                     
    SP2:                                            -           -     -                                                                       -                     
    SP3:                                            -           -     -                                                                                             
    SP4:                                                        -     -                                                                       -                     
    SP5:                                                                                                                                -     -                     

    ExUns: 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b
    SP1:                                -     -     -                 -     -                     
    SP2:                                -                                                         
    SP3:              -     -     -     -     -     -     -           -     -                     
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for NR2C1

    (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

    NR2C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    NR2C1 Expression
    About this image
    See NR2C1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NR2C1

    SOURCE GeneReport for Unigene cluster: Hs.108301
        SABiosciences Expression via Pathway-Focused PCR Array including NR2C1: 

              Nuclear Receptors & Coregulators in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NR2C1

    (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 NR2C1 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves NR2C11 nuclear receptor subfamily 2, group C, member 1 76.57(n)
    79.79(a)
      373913  NM_204124.1  NP_989455.1 
    lizard
    (Anolis carolinensis)
    Reptilia NR2C16
    --
    82(a)
    1 ↔ 1
    5(30978340-30992532)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.215342 Xenopus laevis developmental orphan receptor 2 (DOR2) more 78.57(n)    AF013295.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nr2c11 nuclear receptor subfamily 2, group C, member 1 62.61(n)
    63.3(a)
      553649  NM_001020622.1  NP_001018458.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hr783 ligand-dependent nuclear receptor 68(a)   3 78D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea nhr-2366
    nhr-416
    (see all 5)
    Nuclear hormone receptor family member nhr-41
    (see all 5)
    28(a)
    20(a)
    (see all 5)
    possible ortholog
    1 ↔ many
    (see all 5)
    IV(2327126-2329640)
    IV(1386162-1399352)


    ENSEMBL Gene Tree for NR2C1 (if available)
    TreeFam Gene Tree for NR2C1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NR2C1 gene
    ESRRA2  RXRG2  PGR2  ESR22  ESRRB2  HNF4G2  NR2F62  NR2E12  
    ESRRG2  NR3C22  RXRA2  NR2F12  NR3C12  NR2F22  AR2  ESR12  
    HNF4A2  NR2C22  RXRB2  
    12 SIMAP similar genes for NR2C1 using alignment to 6 protein entries:     NR2C1_HUMAN (see all proteins):
    HNF4G    PPARA    RORA    NR2C2    HNF4alpha    NR5A1
    RXRB    NR3C2    VDR    ESR1    NR1I3    PPARG

    NR2C1 for paralogs           About GeneDecksing



    (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

    10/966 NCBI SNPs in NR2C1 are shown (see all 966    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs123009421,2
    C,F,H--95413533(+) ATCTTG/CTTTGG 1 -- ds500117Minor allele frequency- C:0.14NS EA NA 1230
    rs1882188291,2
    --95413604(+) TGGTTC/TTACTA 1 -- ds50010--------
    rs16484311,2
    C,F,H--95413619(-) AAAGAA/GTGACT 1 -- ds500123Minor allele frequency- G:0.18NS EA NA WA 2750
    rs1430337641,2
    --95413702(+) TCCTCA/GTGTAG 1 -- ds50010--------
    rs779280531,2
    --95413741(+) GATTTC/TGGGAA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1921717361,2
    --95413742(+) ATTTCA/GGGAAC 1 -- ds50010--------
    rs1165120901,2
    C,F--95413747(+) GGGAAC/AGAAAA 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1840614101,2
    --95413761(+) AAGCTA/CATCTG 1 -- ds50010--------
    rs1460616911,2
    --95413792(+) TCAAAC/TTGAAT 1 -- ds50010--------
    rs749504851,2
    F--95413870(+) TCATGA/TTTTAA 1 -- ds50011Minor allele frequency- T:0.03NA 120

    HapMap Linkage Disequilibrium report for NR2C1 (95414057 - 95467479 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NR2C1
         2 CNVs: 5684 49157

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    (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

    NR2C1 for disorders           About GeneDecksing

    OMIM gene information: 601529    OMIM disorders: --

    14 diseases for NR2C1:    About MalaCards
    thyroiditis    fanconi's anemia    cryptorchidism    atopy
    papilloma    hepatitis b    anemia    retinoblastoma
    prostate cancer    hepatitis    prostatitis    immunodeficiency
    leukemia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for NR2C1:
    Blepharophimosis

    1 Novoseek disease relationship for NR2C1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 11358973 (2), 10811662 (1)

    Genetic Association Database (GAD): NR2C1
    Human Genome Epidemiology (HuGE) Navigator: NR2C1 (2 documents)

    Export disorders for NR2C1 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 NR2C1 gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with NR2C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of new human TR2 receptors: a class of steroid receptor with multiple ligand-binding domains. (PubMed id 2597158)1, 2, 3 Chang C....Chang Y. (1989)
    2. Suppression of estrogen receptor-mediated transcription and cell growth by interaction with TR2 orphan receptor. (PubMed id 12093804)1, 2, 9 Hu Y.C....Chang C. (2002)
    3. Transcriptional regulation of the human TR2 orphan receptor gene by nuclear factor 1-A. (PubMed id 17010934)1, 2, 9 Lin Y.L....Lee H.J. (2006)
    4. Identification of a new member of the steroid receptor super-family by cloning and sequence analysis. (PubMed id 3421977)1, 2 Chang C. and Kokontis J. (1988)
    5. HDAC3 as a molecular chaperone for shuttling phosphorylated TR2 to PML: a novel deacetylase activity-independent function of HDAC3. (PubMed id 19204783)1, 9 Gupta P....Wei L.N. (2009)
    6. Identification of histone deacetylase-3 domains that interact with the orphan nuclear receptor TR2. (PubMed id 14521922)1, 9 Li G....Wei L.N. (2003)
    7. TR2 orphan receptor functions as negative modulator for androgen receptor in prostate cancer cells PC-3. (PubMed id 12949936)1, 9 Mu X. and Chang C. (2003)
    8. Recent advances in the TR2 and TR4 orphan receptors of the nuclear receptor superfamily. (PubMed id 12361719)1, 9 Lee Y.F....Chang C. (2002)
    9. Differential and bi-directional regulation between TR2/TR4 orphan nuclear receptors and a specific ligand mediated-peroxisome proliferator-activated receptor alpha in human HaCaT keratinocytes. (PubMed id 12615366)1, 9 Inui S....Chang C. (2003)
    10. The orphan nuclear receptor TR2 interacts directly with both class I and class II histone deacetylases. (PubMed id 11463856)1, 9 Franco P.J.... Wei L.-N. (2001)

    (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: 7181 HGNC: 7971 AceView: NR2C1 Ensembl:ENSG00000120798 euGenes: HUgn7181
    ECgene: NR2C1 H-InvDB: NR2C1

    (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 NR2C1 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 NR2C1 gene:
    Search GeneIP for patents involving NR2C1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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