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Aliases for NR2C1 Gene

Aliases for NR2C1 Gene

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

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 Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is RXRG.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR2C1 Gene

Genomics for NR2C1 Gene

Regulatory Elements for NR2C1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NR2C1 Gene

Chromosome:
12
Start:
95,020,229 bp from pter
End:
95,073,703 bp from pter
Size:
53,475 bases
Orientation:
Minus strand

Genomic View for NR2C1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NR2C1 Gene at MOPED

Post-translational modifications for NR2C1 Gene

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

Antibody Products

No data available for DME Specific Peptides for NR2C1 Gene

Domains & Families for NR2C1 Gene

Gene Families for NR2C1 Gene

Protein Domains for NR2C1 Gene

Suggested Antigen Peptide Sequences for NR2C1 Gene

Graphical View of Domain Structure for InterPro Entry

P13056

UniProtKB/Swiss-Prot:

NR2C1_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
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

GENATLAS Biochemistry:
nuclear receptor subfamily 2,group C,member 1,expressed in testis and prostate,steroid/thyroid hormone receptor superfamily,with several alternative isoforms
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.

Gene Ontology (GO) - Molecular Function for NR2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding TAS 3421977
GO:0003700 transcription factor activity, sequence-specific DNA binding --
GO:0003707 steroid hormone receptor activity IEA --
genes like me logo Genes that share ontologies with NR2C1: view
genes like me logo Genes that share phenotypes with NR2C1: view

Animal Model Products

CRISPR Products

miRNA for NR2C1 Gene

miRTarBase miRNAs that target NR2C1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NR2C1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for NR2C1 Gene COMPARTMENTS Subcellular localization image for NR2C1 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NR2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0016605 PML body 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NR2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0010467 gene expression TAS --
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
Chloramphenicol Approved Pharma 6
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 453
estrogen Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
retinoic acid
302-79-4
Steroid
genes like me logo Genes that share compounds with NR2C1: view

Transcripts for NR2C1 Gene

Unigene Clusters for NR2C1 Gene

Nuclear receptor subfamily 2, group C, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NR2C1

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
NR2C1

Expression for NR2C1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NR2C1 Gene



SOURCE GeneReport for Unigene cluster for NR2C1 Gene Hs.108301

genes like me logo Genes that share expression patterns with NR2C1: view

Protein tissue co-expression partners for NR2C1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia NR2C1 35
  • 93.48 (n)
  • 93.7 (a)
NR2C1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR2C1 35
  • 94.47 (n)
  • 96.35 (a)
NR2C1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr2c1 35
  • 86.08 (n)
  • 89.64 (a)
Nr2c1 16
Nr2c1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR2C1 35
  • 99.28 (n)
  • 98.51 (a)
NR2C1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr2c1 35
  • 84.72 (n)
  • 89.64 (a)
oppossum
(Monodelphis domestica)
Mammalia NR2C1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR2C1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR2C1 35
  • 76.57 (n)
  • 79.79 (a)
NR2C1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR2C1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr2c1 35
  • 73.85 (n)
  • 77.27 (a)
Str.15706 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.21534 35
zebrafish
(Danio rerio)
Actinopterygii nr2c1 35
  • 62.61 (n)
  • 63.3 (a)
nr2c1 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hr78 37
  • 68 (a)
Hr78 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-41 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9698 36
  • 33 (a)
OneToMany
Species with no ortholog for NR2C1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for NR2C1 Gene

Paralogs for NR2C1 Gene

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

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

Variants for NR2C1 Gene

Sequence variations from dbSNP and Humsavar for NR2C1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs35582 -- 95,028,966(-) TTCTA(C/G)ATTGG intron-variant
rs35583 -- 95,028,332(-) agaaa(C/T)agaag intron-variant, downstream-variant-500B
rs35584 -- 95,025,556(-) CTCAG(C/T)CTCCT intron-variant
rs41146 -- 95,026,193(-) GTCTC(A/G)CTCTG intron-variant
rs43202 -- 95,025,858(-) AATGC(A/C)TTCTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7234 OTHER Inversion 18451855
nsv899448 CNV Loss 21882294
nsv518889 CNV Gain 19592680
nsv519584 CNV Loss 19592680
nsv52790 CNV Loss 16902084

Variation tolerance for NR2C1 Gene

Residual Variation Intolerance Score: 32.65% 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)

Relevant External Links for NR2C1 Gene

HapMap Linkage Disequilibrium report
NR2C1

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

Disorders for NR2C1 Gene

Relevant External Links for NR2C1

Genetic Association Database (GAD)
NR2C1
Human Genome Epidemiology (HuGE) Navigator
NR2C1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR2C1
genes like me logo Genes that share disorders with NR2C1: view

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

Publications for NR2C1 Gene

  1. HDAC3 as a molecular chaperone for shuttling phosphorylated TR2 to PML: a novel deacetylase activity-independent function of HDAC3. (PMID: 19204783) Gupta P. … Wei L.N. (PLoS ONE 2009) 23 67
  2. Roles of testicular orphan nuclear receptors 2 and 4 in early embryonic development and embryonic stem cells. (PMID: 19131575) Shyr C.R. … Chang C. (Endocrinology 2009) 23 67
  3. Retinoic acid-stimulated sequential phosphorylation, PML recruitment, and SUMOylation of nuclear receptor TR2 to suppress Oct4 expression. (PMID: 18682553) Gupta P. … Wei L.N. (Proc. Natl. Acad. Sci. U.S.A. 2008) 23 67
  4. Collective repression of the hepatitis B virus enhancer II by human TR4 and TR2 orphan receptors. (PMID: 17645519) Lin T.J. … Lee H.J. (Hepatol. Res. 2008) 23 67
  5. SUMOylation of Tr2 orphan receptor involves Pml and fine-tunes Oct4 expression in stem cells. (PMID: 17187077) Park S.W. … Wei L.N. (Nat. Struct. Mol. Biol. 2007) 23 67

Products for NR2C1 Gene

Sources for NR2C1 Gene

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