Gene
NR3C1
nuclear receptor subfamily 3 group C member 1
- HGNC 7978↗(opens in a new tab)
- Ensembl gene ENSG00000113580↗(opens in a new tab)
- NCBI Gene 2908↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q31.3
- Coordinates
- Chromosome 5: 143,277,934–143,403,686 (GRCh38)
- Exons
- 9 exons across 125.8 kb
- Protein
- 777 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- GR
- Previous symbols
- GRL
- MANE Select transcript
- ENST00000394464.7NM_000176.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Familial Glucocorticoid Deficiency
- glucocorticoid resistanceAutosomal dominant
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How NR3C1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.8 kb of the gene's 125.8 kb; 2,334 of those bases code for the protein.
How a genome test reads NR3C1
6
positions in NR3C1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 125.8 kb of NR3C1, introns included, not only the 6.8 kb of exons.
Traits linked to NR3C1
The Human Phenotype Ontology lists these as features of the rare conditions NR3C1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Behavioral abnormality
- Can't control feelings
- Anxiety
- Depression
- Headache
- Memory impairment
- Psychotic episodes
- Suicidal ideation
Show 4 more traits
Abnormality of the endocrine system
- Increased circulating ACTH level
- Increased circulating androstenedione concentration
- Increased circulating cortisol level
- Increased testosterone
- Low blood aldosterone level
- Paradoxical increased cortisol secretion on dexamethasone suppression test
- Pituitary corticotropic cell adenoma
- Abnormal testosterone level
Show 2 more traits
Abnormality of the integument
- Excessive hairiness
- Buffalo hump
- Patchy darkened skin
- Plethora
- Poor wound healing
- Stretch marks
- Thin skin
- Flushing
Show 2 more traits
Abnormality of the genitourinary system
- Menstrual irregularity
- Abnormal absence of menstruation
- Light or infrequent menstrual periods
- Abnormal libido
- Ambiguous external genitalia
- Female pseudohermaphroditism
- Infertility
- Low sperm count
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). NR3C1 gene: nuclear receptor subfamily 3 group C member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/nr3c1
Dante Labs. NR3C1 gene: nuclear receptor subfamily 3 group C member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nr3c1
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