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

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15851 (e-PCR)
- UniSTS:21280

STS-H68838 (e-PCR)
- UniSTS:43119

D12S1885 (e-PCR)
- UniSTS:21163

REN85499 (e-PCR)
- UniSTS:410297

SHGC-35295 (e-PCR)
- UniSTS:6615

RH102177 (e-PCR)
- UniSTS:96511

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)

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
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
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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

95020229..95073618 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429495.1 → XP_047285451.1 nuclear receptor subfamily 2 group C member 1 isoform X6
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
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
XM_047429494.1 → XP_047285450.1 nuclear receptor subfamily 2 group C member 1 isoform X4
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
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
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
XM_047429496.1 → XP_047285452.1 nuclear receptor subfamily 2 group C member 1 isoform X8

Related

ENSP00000478728.1, ENST00000622476.4
XM_047429497.1 → XP_047285453.1 nuclear receptor subfamily 2 group C member 1 isoform X9
XM_047429499.1 → XP_047285455.1 nuclear receptor subfamily 2 group C member 1 isoform X10

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

95000934..95054323 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373123.1 → XP_054229098.1 nuclear receptor subfamily 2 group C member 1 isoform X6
XM_054373122.1 → XP_054229097.1 nuclear receptor subfamily 2 group C member 1 isoform X5
XM_054373119.1 → XP_054229094.1 nuclear receptor subfamily 2 group C member 1 isoform X2
XM_054373121.1 → XP_054229096.1 nuclear receptor subfamily 2 group C member 1 isoform X4
XM_054373118.1 → XP_054229093.1 nuclear receptor subfamily 2 group C member 1 isoform X1
XM_054373120.1 → XP_054229095.1 nuclear receptor subfamily 2 group C member 1 isoform X3
XM_054373124.1 → XP_054229099.1 nuclear receptor subfamily 2 group C member 1 isoform X7
XM_054373125.1 → XP_054229100.1 nuclear receptor subfamily 2 group C member 1 isoform X8
XM_054373126.1 → XP_054229101.1 nuclear receptor subfamily 2 group C member 1 isoform X9
XM_054373127.1 → XP_054229102.1 nuclear receptor subfamily 2 group C member 1 isoform X10