NR3C1 wt Allele

Preferred Label : NR3C1 wt Allele;

NCIt synonyms : GR; GCR; GRL; Nuclear Receptor Subfamily 3, Group C, Member 1 (Glucocorticoid Receptor) wt Allele;

NCIt definition : Human NR3C1 wild-type allele is located in the vicinity of 5q31.3 and is approximately 125 kb in length. This allele, which encodes glucocorticoid receptor protein, is involved in transcriptional regulation that affects a variety of processes such as blood glucose concentration, protein/fat metabolism, inflammatory responses, cellular proliferation, and differentiation. Mutations in the gene are a primary cause of glucocorticoid resistance, or cortisol resistance.;

GenBank Accession Number : NM_000176;

Details

Origin ID

C51705;

UMLS CUI

C1705401;

OMIM relation
- Glucocorticoid receptor [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Hypertension [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q31 [NCIt concept]
gene_is_element_in_pathway
- Androgen Receptor Regulation Pathway [NCIt concept]
- Chromatin Remodeling Complex and Coactivator Pathway [NCIt concept]
- Corticosteroid Cardioprotection Pathway [NCIt concept]
- Estrogen Receptor Regulation by CARM1 Pathway [NCIt concept]
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- Glucocorticoid Receptor Regulatory Network [NCIt concept]
- HDAC Class II Signaling Pathway [NCIt concept]
- IFN-Beta Enhancer Pathway [NCIt concept]
- Metabolic Syndrome Pathway [NCIt concept]
- NFKB Activation Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- RNA Polymerase III Transcription Pathway [NCIt concept]
- Regulation of Nuclear SMAD2/3 Signaling Pathway [NCIt concept]
- hSWI-SNF Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Binding [NCIt concept]
- Homeostatic Process [NCIt concept]
- Inflammatory Response [NCIt concept]
- Ligand Binding [NCIt concept]
- Maturation [NCIt concept]
- Pattern Formation [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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