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Gene

NR3C2

nuclear receptor subfamily 3 group C member 2

Summary

Cytogenetic location
4q31.23
Coordinates
Chromosome 4: 148,078,764–148,442,414 (GRCh38)
Exons
9 exons across 363.7 kb
Protein
984 amino acids
Also known as
MR
Previous symbols
MLR
MANE Select transcript
ENST00000358102.8NM_000901.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Monogenic Hypertension & Mineralocorticoid Disorders

    • Pseudohypoaldosteronism Type 1

      A salt-wasting condition in which the body does not respond to aldosterone, caused by changes in NR3C2 (a milder kidney-limited form) or in the SCNN1 sodium-channel genes (a more severe, multi-organ form).

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports early salt supplementation and monitoring of potassium in infancy.

How NR3C2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where NR3C2 sits. NR3C2 and 1 gene near it on chromosome 4, from 147,715,113 to 148,806,065.Chromosome 44q31.23p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2147.8 Mb148 Mb148.2 Mb148.4 Mb148.6 Mb148.8 MbARHGAP10: 147,731,922–148,072,780, forward strandARHGAP10NR3C2: 148,078,764–148,442,414, reverse strandNR3C2Diagram of NR3C2: 9 exons on the reverse strand of chromosome 4Exon 9: 1 known disease-causing siteExon 8: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 9: 148,078,764–148,081,499, 2,736 basesExon 8: 148,114,104–148,114,261, 158 basesExon 7: 148,120,158–148,120,288, 131 basesExon 6: 148,152,469–148,152,613, 145 basesExon 5: 148,154,551–148,154,901, 351 basesExon 4: 148,194,746–148,194,862, 117 basesExon 3: 148,259,978–148,260,117, 140 basesExon 2: 148,435,104–148,436,862, 1,759 basesExon 1: 148,442,160–148,442,414, 255 bases9864215′3′

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 5.8 kb of the gene's 363.7 kb; 2,955 of those bases code for the protein.

How a genome test reads NR3C2

20

positions in NR3C2 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 363.7 kb of NR3C2, introns included, not only the 5.8 kb of exons.

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

APA

Dante Labs. (n.d.). NR3C2 gene: nuclear receptor subfamily 3 group C member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/nr3c2

Vancouver

Dante Labs. NR3C2 gene: nuclear receptor subfamily 3 group C member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nr3c2

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