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 express... See more...

Aliases for NR2C1 Gene

Aliases for NR2C1 Gene

  • Nuclear Receptor Subfamily 2 Group C Member 1 2 3 4 5
  • Orphan Nuclear Receptor TR2 3 4
  • TR2 3 4
  • Nuclear Receptor Subfamily 2, Group C, Member 1 2
  • Nuclear Receptor Subfamily 2, Group C Isoform 3
  • TR2 Nuclear Hormone Receptor 3
  • Testicular Receptor 2 4
  • TR2-11 2
  • NR2C1 5

External Ids for NR2C1 Gene

Previous HGNC Symbols for NR2C1 Gene

  • TR2

Previous GeneCards Identifiers for NR2C1 Gene

  • GC12P094483
  • GC12P9G0092
  • GC12M095348
  • GC12M093918
  • GC12M095414
  • GC12M092481

Summaries for NR2C1 Gene

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. Among its related pathways are Gene Expression and Regulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR2C2.

UniProtKB/Swiss-Prot Summary for NR2C1 Gene

  • 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 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR2C1 Gene

Genomics for NR2C1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NR2C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J095072 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 202 2.9 CREB1 GATAD2A CTCF PRDM10 ZNF629 ZNF692 TARDBP ZHX2 JUND LARP7 NR2C1 lnc-FGD6-2 VEZT NDUFA12 FGD6 RF00017-1209
GH12J095081 Promoter 0.3 EPDnew 600.4 -7.8 -7808 0.1 NR2C1 LOC112268099 lnc-NR2C1-3 FGD6
GH12J095545 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 37 -475.5 -475495 7.4 RNF2 TEAD4 PRDM10 ZNF629 KDM1A ZNF692 FOXA1 PRDM1 ZIC2 ZSCAN4 USP44 lnc-NTN4-3 NR2C1 METAP2 VEZT PGAM1P5
GH12J095652 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 52.7 -580.1 -580104 2.4 CEBPG CREB1 GATAD2A TFE3 IKZF1 RFX1 RXRB REST IKZF2 ZNF331 NR2C1 ELK3 METAP2 SNRPF NTN4 USP44 VEZT LTA4H piR-34822-070 lnc-USP44-2
GH12J095941 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 31.7 -869.4 -869444 2.5 HNRNPL PRDM10 ZNF629 TFE3 CTCF ZNF692 POLR2A RCOR2 GABPA PRDM1 AMDHD1 CCDC38 RF00017-1212 lnc-HAL-2 NR2C1 ELK3 METAP2 SNRPF USP44 LTA4H
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NR2C1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR2C1

Top Transcription factor binding sites by QIAGEN in the NR2C1 gene promoter:
  • Egr-1
  • p53
  • Pax-2
  • Pax-2a
  • Pax-2b
  • PPAR-alpha
  • RORalpha2
  • SRF
  • SRF (504 AA)

Genomic Locations for NR2C1 Gene

Genomic Locations for NR2C1 Gene
chr12:95,020,229-95,073,628
(GRCh38/hg38)
Size:
53,400 bases
Orientation:
Minus strand
chr12:95,414,005-95,467,479
(GRCh37/hg19)
Size:
53,475 bases
Orientation:
Minus strand

Genomic View for NR2C1 Gene

Genes around NR2C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR2C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR2C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR2C1 Gene

Proteins for NR2C1 Gene

  • Protein details for NR2C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13056-NR2C1_HUMAN
    Recommended name:
    Nuclear receptor subfamily 2 group C member 1
    Protein Accession:
    P13056
    Secondary Accessions:
    • A8K5K4
    • Q15625
    • Q15626

    Protein attributes for NR2C1 Gene

    Size:
    603 amino acids
    Molecular mass:
    67315 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for NR2C1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR2C1 Gene

Post-translational modifications for NR2C1 Gene

  • 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).
  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for NR2C1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NR2C1

No data available for DME Specific Peptides for NR2C1 Gene

Domains & Families for NR2C1 Gene

Gene Families for NR2C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Nuclear receptors
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR2C1 Gene

Suggested Antigen Peptide Sequences for NR2C1 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor subfamily 2, group C isoform (B6ZGT7_HUMAN)
  • Testicular receptor 2 (NR2C1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13056

UniProtKB/Swiss-Prot:

NR2C1_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
genes like me logo Genes that share domains with NR2C1: view

Function for NR2C1 Gene

Molecular function for NR2C1 Gene

UniProtKB/Swiss-Prot 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:
nuclear receptor subfamily 2,group C,member 1,expressed in testis and prostate,steroid/thyroid hormone receptor superfamily,with several alternative isoforms

Phenotypes From GWAS Catalog for NR2C1 Gene

Gene Ontology (GO) - Molecular Function for NR2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA,TAS 3421977
genes like me logo Genes that share ontologies with NR2C1: view
genes like me logo Genes that share phenotypes with NR2C1: view

Animal Models for NR2C1 Gene

MGI Knock Outs for NR2C1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR2C1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NR2C1 Gene

Localization for NR2C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR2C1 Gene

Nucleus. Nucleus, PML body. Note=Recruited by HDAC3, after all-trans retinoic acid stimulated MAPK1-mediated Thr-223 phosphorylation, to PML bodies for subsequent sumoylation. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR2C1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cell Junctions (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0016605 PML body IEA --
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with NR2C1: view

Pathways & Interactions for NR2C1 Gene

genes like me logo Genes that share pathways with NR2C1: view

Pathways by source for NR2C1 Gene

Gene Ontology (GO) - Biological Process for NR2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA,IPI 17974920
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0030154 cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with NR2C1: view

No data available for SIGNOR curated interactions for NR2C1 Gene

Drugs & Compounds for NR2C1 Gene

(3) Drugs for NR2C1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NR2C1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NR2C1: view

Transcripts for NR2C1 Gene

mRNA/cDNA for NR2C1 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR2C1

Alternative Splicing Database (ASD) splice patterns (SP) for NR2C1 Gene

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: - -
SP6: - -
SP7: -
SP8: - - -
SP9: - - - -
SP10: - - - -
SP11: - - - - - -
SP12: - - -
SP13: - - -
SP14: -
SP15:
SP16:

ExUns: 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b
SP1: - - - - -
SP2: -
SP3: - - - - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - -
SP16:

Relevant External Links for NR2C1 Gene

GeneLoc Exon Structure for
NR2C1

Expression for NR2C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR2C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NR2C1 Gene

This gene is overexpressed in Fetal ovary (32.3) and Platelet (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NR2C1 Gene



Protein tissue co-expression partners for NR2C1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR2C1

SOURCE GeneReport for Unigene cluster for NR2C1 Gene:

Hs.108301

Evidence on tissue expression from TISSUES for NR2C1 Gene

  • Intestine(4.4)
  • Nervous system(3.9)
  • Liver(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with NR2C1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NR2C1 Gene

Orthologs for NR2C1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR2C1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NR2C1 30 31
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NR2C1 30 31
  • 94.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NR2C1 30 31
  • 93.48 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NR2C1 31
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Nr2c1 30 17 31
  • 86.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nr2c1 30
  • 84.72 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NR2C1 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NR2C1 30 31
  • 76.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NR2C1 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nr2c1 30
  • 73.85 (n)
Str.15706 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.21534 30
Zebrafish
(Danio rerio)
Actinopterygii nr2c1 30 31
  • 62.61 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Hr78 31 32
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea nhr-41 31
  • 23 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9698 31
  • 33 (a)
OneToMany
Species where no ortholog for NR2C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NR2C1 Gene

ENSEMBL:
Gene Tree for NR2C1 (if available)
TreeFam:
Gene Tree for NR2C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NR2C1: view image

Paralogs for NR2C1 Gene

Paralogs for NR2C1 Gene

(11) SIMAP similar genes for NR2C1 Gene using alignment to 6 proteins:

  • NR2C1_HUMAN
  • B6ZGT7_HUMAN
  • F8W1Q1_HUMAN
  • H0YHC6_HUMAN
  • H0YIV1_HUMAN
  • H9NIM2_HUMAN
genes like me logo Genes that share paralogs with NR2C1: view

Variants for NR2C1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR2C1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
816803 Likely Pathogenic: Flexion contracture 95,058,309(-) C/G SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for NR2C1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NR2C1 Gene

Variant ID Type Subtype PubMed ID
nsv473942 CNV novel sequence insertion 20440878
nsv518889 CNV gain 19592680
nsv519584 CNV loss 19592680
nsv52790 CNV deletion 16902084
nsv559806 CNV loss 21841781
nsv7234 OTHER inversion 18451855

Variation tolerance for NR2C1 Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR2C1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR2C1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR2C1 Gene

Disorders for NR2C1 Gene

Additional Disease Information for NR2C1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for NR2C1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NR2C1 Gene

Publications for NR2C1 Gene

  1. Transcriptional regulation of the human TR2 orphan receptor gene by nuclear factor 1-A. (PMID: 17010934) Lin YL … Lee HJ (Biochemical and biophysical research communications 2006) 3 4 23
  2. Suppression of estrogen receptor-mediated transcription and cell growth by interaction with TR2 orphan receptor. (PMID: 12093804) Hu YC … Chang C (The Journal of biological chemistry 2002) 3 4 23
  3. Molecular cloning of new human TR2 receptors: a class of steroid receptor with multiple ligand-binding domains. (PMID: 2597158) Chang C … Chang Y (Biochemical and biophysical research communications 1989) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. HDAC3 as a molecular chaperone for shuttling phosphorylated TR2 to PML: a novel deacetylase activity-independent function of HDAC3. (PMID: 19204783) Gupta P … Wei LN (PloS one 2009) 3 23

Products for NR2C1 Gene

Sources for NR2C1 Gene