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

Gene ID: 7181, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (95020229..95073618, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (95000934..95054323, complement)
105.20220307 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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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. 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
  5. 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

See all (41) 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)

Genotypes

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 anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
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 steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in PML body IEA
Inferred from Electronic Annotation
more info
  
part_of 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_2023_10

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

  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

    Related
    ENSP00000478728.1, ENST00000622476.4

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

  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

  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

  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

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

  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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