NR2C1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
NR2C1
Official Name
nuclear receptor subfamily 2 group C member 1 [Source:HGNC Symbol;Acc:HGNC:7971]
Ensembl ID
ENSG00000120798
Bio databases IDs NCBI: 7181 Ensembl: ENSG00000120798
Aliases nuclear receptor subfamily 2 group C member 1
Synonyms 4831444H07RIK, 80.3, EENR, nuclear receptor subfamily 2 group C member 1, nuclear receptor subfamily 2, group C, member 1, Psg4, TR2, TR2-11
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NR2C1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • dimerization domain
  • signaling receptor activity
  • steroid hormone receptor
  • DNA binding domain
  • DNA-binding domain of nuclear receptors is composed of two C4-type zinc fingers
  • nucleic acid binding
  • histone deacetylase binding
  • protein binding
  • sequence-specific DNA binding
  • DNA binding
  • nuclear receptor ligand binding domain
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
  • AF-1 domain
  • ligand-binding domain
  • double-stranded DNA binding
  • protein homodimerization
  • zinc finger domain
  • Ligand-binding domain of nuclear hormone receptor

Pathways

Biological processes and signaling networks where the NR2C1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hepatosplenomegaly
  • sickle cell anemia
  • coronary artery disease
regulated by
  • tretinoin
  • MAPK1
  • MYC
  • CNTF
  • NR2C1
  • NRIP1
  • N,N,N',N'-tetrakis(2-pyridyl-methyl)ethylenediamine
  • pirinixic acid
  • clofibrate
  • beta-estradiol
regulates
  • POU5F1
  • RARB
  • NR2C1
  • DNA promoter
  • gamma globin
  • DNA endogenous promoter
  • RNA polymerase II
  • hemoglobin alpha
  • CNTFR
  • estrogen receptor
role in cell
  • quantity
  • sumoylation in
  • association in
  • association

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • nucleoplasm
  • PML nuclear bodies
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NR2C1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of retinoic acid receptor signaling pathway
  • negative regulation of transcription from RNA polymerase II promoter
  • anatomical structure development
  • cell differentiation
  • steroid hormone mediated signaling pathway
  • intracellular receptor mediated signaling pathway

Cellular Component

Where in the cell the gene product is active
  • PML body
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • DNA binding
  • zinc ion binding
  • protein homodimerization activity
  • protein binding
  • histone deacetylase binding
  • ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • signaling receptor activity
  • steroid hormone receptor activity
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.