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NR3C1

Chr 5q31.3

nuclear receptor subfamily 3 group C member 1

Aliases:
GR
MANE:
ENST00000394464.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Differences in sex development

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Extreme early-onset hypertension

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • glucocorticoid resistance

    0.81
  • chronic obstructive pulmonary disease

    0.70
  • multiple sclerosis

    0.69
  • rheumatoid arthritis

    0.63
  • asthma

    0.63
  • plasma cell myeloma

    0.62
  • sarcoidosis

    0.62
  • infection

    0.62
  • autoimmune thrombocytopenic purpura

    0.62
  • osteoarthritis

    0.62

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glucocorticoid receptor

Receptor for glucocorticoids (GC) (PubMed:27120390, PubMed:37478846). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors (PubMed:28139699). Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of target mRNAs and interacting with PNRC2 in a ligand-dependent manner which recruits the RNA helicase UPF1 and the mRNA-decapping enzyme DCP1A, leading to RNA decay (PubMed:25775514). Could act as a coactivator for STAT5-dependent transcription upon growth hormone (GH) stimulation and could reveal an essential role of hepatic GR in the control of body growth (By similarity)

Curated MONDO disease pages that list NR3C1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.