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    NR2C1 nuclear receptor subfamily 2 group C member 1 [ Homo sapiens (human) ]

    Gene ID: 7181, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NR2C1provided by HGNC
    Official Full Name
    nuclear receptor subfamily 2 group C member 1provided by HGNC
    Primary source
    HGNC:HGNC:7971
    See related
    Ensembl:ENSG00000120798 MIM:601529; AllianceGenome:HGNC:7971
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TR2
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 8.3), endometrium (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NR2C1 in Genome Data Viewer
    Location:
    12q22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (95020229..95073618, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (95000934..95054323, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (95414005..95467394, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369915 Neighboring gene NANOG hESC enhancer GRCh37_chr12:95316310-95316850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4735 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:95353619-95353879 Neighboring gene NANOG hESC enhancer GRCh37_chr12:95383137-95383648 Neighboring gene NADH:ubiquinone oxidoreductase subunit A12 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:95397104-95397731 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:95416774-95417006 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:95448437-95449289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:95449290-95450141 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:95466981-95467481 Neighboring gene peroxiredoxin 6 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 6 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:95508516-95509249 Neighboring gene ribosomal protein L14 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The genomic structure and chromosomal location of the human TR2 orphan receptor, a member of the steroid receptor superfamily. Lin DL, et al. Endocrine, 1998 Apr. PMID 9704569
    2. Identification of a new member of the steroid receptor super-family by cloning and sequence analysis. Chang C, et al. Biochem Biophys Res Commun, 1988 Sep 15. PMID 3421977
    3. Molecular cloning of new human TR2 receptors: a class of steroid receptor with multiple ligand-binding domains. Chang C, et al. Biochem Biophys Res Commun, 1989 Dec 15. PMID 2597158
    4. TR2 orphan receptor functions as negative modulator for androgen receptor in prostate cancer cells PC-3. Mu X, et al. Prostate, 2003 Oct 1. PMID 12949936
    5. Identification of histone deacetylase-3 domains that interact with the orphan nuclear receptor TR2. Li G, et al. Biochem Biophys Res Commun, 2003 Oct 17. PMID 14521922

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NamiRNA-enhancer network of miR-492 activates the NR2C1-TGF-beta/Smad3 pathway to promote epithelial-mesenchymal transition of pancreatic cancer.
      Title: NamiRNA-enhancer network of miR-492 activates the NR2C1-TGF-β/Smad3 pathway to promote epithelial-mesenchymal transition of pancreatic cancer.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. TR2 that may exert an important repressor in regulating ER activity in mammary glands.
      Title: Suppression of estrogen receptor-mediated transcription and cell growth by interaction with TR2 orphan receptor.
    4. DRED is a 540 kDa complex containing the nuclear orphan receptors TR2 and TR4, which form a heterodimer that binds to the epsilon and gamma globin promoter DR1 sites. TR2 & 4 mRNAs are expressed at all stages of murine and human erythropoiesis.
      Title: An embryonic/fetal beta-type globin gene repressor contains a nuclear receptor TR2/TR4 heterodimer.
    5. TR2 and TR4 can have distinct functions. Existence of differential and bi-directional regulation between PPAR alpha and TR2/TR4. Possible roles in PPAR alpha signaling pathway in human keratinocytes.
      Title: 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.
    6. The NF1-A transcription factor plays an important role in the transcriptional activation of the TR2 gene expression via a promoter activating cis-element.
      Title: Transcriptional regulation of the human TR2 orphan receptor gene by nuclear factor 1-A.
    7. TR2 may function as a negative modulator to suppress androgen receptor function in prostate cancer. Further studies on how to control TR2 function may result in the ability to modulate AR function in prostate cancer.
      Title: TR2 orphan receptor functions as negative modulator for androgen receptor in prostate cancer cells PC-3.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    matrix gag HIV-1 MA upregulates NR2C1 gene expression in HepG2 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone deacetylase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear steroid receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in positive regulation of retinoic acid receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in steroid hormone receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in PML body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    nuclear receptor subfamily 2 group C member 1
    Names
    TR2 nuclear hormone receptor
    orphan nuclear receptor TR2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001032287.3 → NP_001027458.1  nuclear receptor subfamily 2 group C member 1 isoform b

      See identical proteins and their annotated locations for NP_001027458.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1. The resulting isoform (b, also known as TR2-9) has a shorter C-terminus compared to isoform a.
      Source sequence(s)
      BC040141, DB266298
      Consensus CDS
      CCDS41821.1
      UniProtKB/TrEMBL
      A0A087WUK4, H9NIM3
      Related
      ENSP00000376813.3, ENST00000393101.7
      Conserved Domains (2) summary
      cd06967
      Location:108 → 194
      NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
      cl11397
      Location:368 → 464
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    2. NM_001127362.2 → NP_001120834.1  nuclear receptor subfamily 2 group C member 1 isoform c

      See identical proteins and their annotated locations for NP_001120834.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR compared to variant 1. The resulting isoform (c, also known as TR2-5) has a shorter C-terminus compared to isoform a.
      Source sequence(s)
      AK291319, BC040141, DB266298, M21985
      Consensus CDS
      CCDS44953.1
      UniProtKB/TrEMBL
      A0A087WUK4
      Related
      ENSP00000328843.7, ENST00000330677.7
      Conserved Domains (2) summary
      cd06967
      Location:108 → 194
      NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
      cl11397
      Location:368 → 465
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    3. NM_003297.4 → NP_003288.2  nuclear receptor subfamily 2 group C member 1 isoform a

      See identical proteins and their annotated locations for NP_003288.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as TR2-11).
      Source sequence(s)
      AC011598, AK291319, DB266298, JQ308177
      Consensus CDS
      CCDS9051.1
      UniProtKB/Swiss-Prot
      A8K5K4, P13056, Q15625, Q15626
      UniProtKB/TrEMBL
      H9NIM2
      Related
      ENSP00000333275.4, ENST00000333003.10
      Conserved Domains (2) summary
      cd06952
      Location:368 → 589
      NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
      cd06967
      Location:108 → 194
      NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      95020229..95073618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429495.1 → XP_047285451.1  nuclear receptor subfamily 2 group C member 1 isoform X6

    2. XM_011538717.3 → XP_011537019.1  nuclear receptor subfamily 2 group C member 1 isoform X5

      Conserved Domains (2) summary
      cd06967
      Location:108 → 194
      NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
      cl11397
      Location:322 → 493
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    3. XM_006719584.3 → XP_006719647.1  nuclear receptor subfamily 2 group C member 1 isoform X2

      Conserved Domains (2) summary
      cd06967
      Location:108 → 194
      NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
      cl11397
      Location:368 → 543
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    4. XM_047429494.1 → XP_047285450.1  nuclear receptor subfamily 2 group C member 1 isoform X4

      UniProtKB/TrEMBL
      A0A087WUK4

    5. XM_005269133.3 → XP_005269190.1  nuclear receptor subfamily 2 group C member 1 isoform X1

      Conserved Domains (2) summary
      cd06952
      Location:368 → 584
      NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
      cd06967
      Location:108 → 194
      NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers

    6. XM_011538716.3 → XP_011537018.1  nuclear receptor subfamily 2 group C member 1 isoform X3

      UniProtKB/TrEMBL
      A0A087WUK4
      Conserved Domains (2) summary
      cd06967
      Location:108 → 194
      NR_DBD_TR2_like; DNA-binding domain of the TR2 and TR4 (human testicular receptor 2 and 4) is composed of two C4-type zinc fingers
      cl11397
      Location:368 → 514
      NR_LBD; The ligand binding domain of nuclear receptors, a family of ligand-activated transcription regulators

    7. XM_006719585.3 → XP_006719648.1  nuclear receptor subfamily 2 group C member 1 isoform X7

      Conserved Domains (2) summary
      cd06952
      Location:191 → 412
      NR_LBD_TR2_like; The ligand binding domain of the orphan nuclear receptors TR4 and TR2
      cl02596
      Location:1 → 17
      NR_DBD_like; DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers

    8. XM_047429496.1 → XP_047285452.1  nuclear receptor subfamily 2 group C member 1 isoform X8

      UniProtKB/TrEMBL
      A0A087WUK4
      Related
      ENSP00000478728.1, ENST00000622476.4

    9. XM_047429497.1 → XP_047285453.1  nuclear receptor subfamily 2 group C member 1 isoform X9

      UniProtKB/TrEMBL
      A0A087WUK4

    10. XM_047429499.1 → XP_047285455.1  nuclear receptor subfamily 2 group C member 1 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      95000934..95054323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373123.1 → XP_054229098.1  nuclear receptor subfamily 2 group C member 1 isoform X6

    2. XM_054373122.1 → XP_054229097.1  nuclear receptor subfamily 2 group C member 1 isoform X5

    3. XM_054373119.1 → XP_054229094.1  nuclear receptor subfamily 2 group C member 1 isoform X2

    4. XM_054373121.1 → XP_054229096.1  nuclear receptor subfamily 2 group C member 1 isoform X4

      UniProtKB/TrEMBL
      A0A087WUK4

    5. XM_054373118.1 → XP_054229093.1  nuclear receptor subfamily 2 group C member 1 isoform X1

    6. XM_054373120.1 → XP_054229095.1  nuclear receptor subfamily 2 group C member 1 isoform X3

      UniProtKB/TrEMBL
      A0A087WUK4

    7. XM_054373124.1 → XP_054229099.1  nuclear receptor subfamily 2 group C member 1 isoform X7

    8. XM_054373125.1 → XP_054229100.1  nuclear receptor subfamily 2 group C member 1 isoform X8

      UniProtKB/TrEMBL
      A0A087WUK4

    9. XM_054373126.1 → XP_054229101.1  nuclear receptor subfamily 2 group C member 1 isoform X9

      UniProtKB/TrEMBL
      A0A087WUK4

    10. XM_054373127.1 → XP_054229102.1  nuclear receptor subfamily 2 group C member 1 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13056.2 GenPept UniProtKB/Swiss-Prot:P13056

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