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NR2C1 Gene

protein-coding   GIFtS: 59
GCID: GC12M095414

Nuclear Receptor Subfamily 2, Group C, Member 1


(Previous symbol: TR2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nuclear Receptor Subfamily 2, Group C, Member 11 2     Nuclear Receptor Subfamily 2, Group C Isoform2
TR21 2 3     TR2 Nuclear Hormone Receptor2
Orphan Nuclear Receptor TR22 3     Testicular Receptor 23
Nuclear Receptor Subfamily 2 Group C Member 12     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NR2C1 Gene:
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)

GeneCards Summary for NR2C1 Gene:
NR2C1 (nuclear receptor subfamily 2, group C, member 1) is a protein-coding gene. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RXRA.

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) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for NR2C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
95,414,005 bp from pter      End:
95,467,479 bp from pter
Size:
53,475 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

Explore proteomics data for NR2C1 at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NR2C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001027458.1  NP_001120834.1  NP_003288.2  

    ENSEMBL proteins: 
     ENSP00000333275   ENSP00000450225   ENSP00000446817   ENSP00000376813   ENSP00000328843  
     ENSP00000446906  
    Reactome Protein details: P13056

    NR2C1 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for NR2C1 

     
    antibodies-online proteins for NR2C1 (7 products) 

     
    antibodies-online peptides for NR2C1

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    antibodies-online antibodies for NR2C1 (42 products) 

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    antibodies-online kits for NR2C1 (8 products) 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Testicular receptor 2
    2C. Testicular receptors

    5 InterPro protein domains:
     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


    Find genes that share domains with NR2C1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with NR2C1           About GenesLikeMe


    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 

    Find genes that share phenotypes with NR2C1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NR2C1
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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
    SwitchGear 3'UTR luciferase reporter plasmidNR2C1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NR2C1_HUMAN, P13056: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with NR2C1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NR2C1 About    
    See pathways by source

    SuperPathContained pathways About
    1Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    2Nuclear Receptor transcription pathway
    Nuclear Receptor transcription pathway0.67
    3Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I
    4Regulation of Androgen receptor activity
    Regulation of Androgen receptor activity


    Find genes that share SuperPaths with NR2C1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for NR2C1
        Nuclear Receptor transcription pathway


        Pathway & Disease-focused RT2 Profiler PCR Array including NR2C1: 
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NR2C1

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

    Selected Interacting proteins for NR2C1 (P130562, 3 ENSP000003332754) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUDT3O959892, 3MINT-8264880 I2D: score=2 
    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): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0010467gene expression TAS--
    GO:0043401steroid hormone mediated signaling pathway ----

    Find genes that share ontologies with NR2C1           About GenesLikeMe



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

    Browse Tocris compounds for NR2C1

    5 Novoseek inferred 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)



    Find genes that share compounds with NR2C1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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:
    ENST00000333003(uc001tdm.4 uc010suu.1) ENST00000551647 ENST00000552861
    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 mRNA 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 

    Selected AceView cDNA sequences (see all 147):

    AL513888 AA300579 AL525589 AW008437 BQ028119 BM678635 AA373148 AL121055 
    BU616009 BG682389 BC040141 AU280557 AU076765 BX498859 BX385627 AI653325 
    BU688702 AW021046 BM786552 AA226914 AA953009 CD653602 AU127636 BM557938 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NR2C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NR2C1 Expression
    About this image

    NR2C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NR2C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.108301
        Pathway & Disease-focused RT2 Profiler PCR Array including NR2C1: 
              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)
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    This gene was present in the common ancestor of animals.

    Orthologs for NR2C1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nr2c11 , 5 nuclear receptor subfamily 2, group C, member 11, 5 86.08(n)1
    89.64(a)1
      10 (48.81 cM)5
    220251  NM_011629.31  NP_035759.31 
     941480235 
    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
    nuclear receptor subfamily 2, group C, member 1
    82(a)
    1 ↔ 1
    5(30978340-30992534)
    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-416
    Protein NHR-41 (nhr-41) mRNA, complete cds
    23(a)
    1 → many
    IV(1386163-1399353) WBGene00022423


    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)
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    Paralogs for NR2C1 gene
    RXRA2  RXRG2  NR2F12  NR2F22  HNF4G2  NR2F62  NR2E12  HNF4A2  
    NR2C22  RXRB2  
    11 SIMAP similar genes for NR2C1 using alignment to 6 protein entries:     NR2C1_HUMAN (see all proteins):
    HNF4G    RORA    NR2C2    HNF4alpha    NR5A1    RXRB
    NR3C2    VDR    ESR1    NR1I3    PPARG

    Find genes that share paralogs with NR2C1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NR2C1 (see all 1188)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs361249451,2
    C--95299518(+) GCCTC-/AAAAAA 3 -- int10--------
    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
    F--95413741(+) GATTTC/TGGGAA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1921717361,2
    --95413742(+) ATTTCA/GGGAAC 1 -- ds50010--------
    rs1165120901,2
    C,F--95413747(+) GGGAAA/C/TGAAAA 1 -- ds50011WA 118
    rs1840614101,2
    --95413761(+) AAGCTA/CATCTG 1 -- ds50010--------
    rs1460616911,2
    --95413792(+) TCAAAC/TTGAAT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NR2C1 (95414005 - 95467479 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NR2C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899448CNV Loss21882294
    nsv52790CNV Loss16902084
    nsv519584CNV Loss19592680
    nsv518889CNV Gain19592680
    nsv7234OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 601529    OMIM disorders: --

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

    Find genes that share disorders with NR2C1           About GenesLikeMe

    1 Novoseek inferred 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)
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    PubMed articles for NR2C1 gene, integrated from 10 sources (see all 52):
    (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. (Biochem. Biophys. Res. Commun. 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. (J. Biol. Chem. 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. (Biochem. Biophys. Res. Commun. 2006)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. 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. (Biochem. Biophys. Res. Commun. 1988)
    6. 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. (PLoS ONE 2009)
    7. Identification of histone deacetylase-3 domains that interact with the orphan nuclear receptor TR2. (PubMed id 14521922)1, 9 Li G....Wei L.N. (Biochem. Biophys. Res. Commun. 2003)
    8. 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. (Prostate 2003)
    9. Recent advances in the TR2 and TR4 orphan receptors of the nuclear receptor superfamily. (PubMed id 12361719)1, 9 Lee Y.F....Chang C. (J. Steroid Biochem. Mol. Biol. 2002)
    10. 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. (J. Dermatol. Sci. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7181 HGNC: 7971 AceView: NR2C1 Ensembl:ENSG00000120798 euGenes: HUgn7181
    ECgene: NR2C1 H-InvDB: NR2C1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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