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Gene

CYP11B2

cytochrome P450 family 11 subfamily B member 2

Summary

Cytogenetic location
8q24.3
Coordinates
Chromosome 8: 142,910,559–142,917,843 (GRCh38)
Exons
9 exons across 7.3 kb
Protein
503 amino acids
Inheritance
Autosomal recessive
Also known as
CYP11BL, CPN2, P-450C18, P450aldo, ALDOS
Previous symbols
CYP11B
MANE Select transcript
ENST00000323110.2NM_000498.3
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

    • Aldosterone Synthase DeficiencyAutosomal recessive

      An inherited defect in the last step of aldosterone production, usually caused by changes in CYP11B2, which leads to salt loss and high potassium in infancy.

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

      Knowing about it supports treatment with fludrocortisone and salt replacement.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CYP11B2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where CYP11B2 sits. CYP11B2 and 25 genes near it on chromosome 8, from 142,414,201 to 143,414,200.Chromosome 88q24.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3142.6 Mb142.8 Mb143 Mb143.2 Mb143.4 MbADGRB1: 142,449,430–142,545,009, forward strandADGRB1ARC: 142,611,049–142,614,479, reverse strandARCJRK: 142,657,460–142,681,968, reverse strandJRKPSCA: 142,670,308–142,682,725, forward strandPSCALY6K: 142,699,988–142,705,190, forward strandLY6KTHEM6: 142,727,176–142,736,938, forward strandSLURP1: 142,740,941–142,742,414, reverse strandLYPD2: 142,750,150–142,753,006, reverse strandLYNX1-SLURP2: 142,764,334–142,778,224, reverse strandLYNX1-SLURP2SLURP2: 142,764,334–142,769,828, reverse strandSLURP2LYNX1: 142,771,197–142,777,889, reverse strandLYNX1LY6D: 142,784,881–142,786,546, reverse strandLY6DGML: 142,834,171–142,916,506, forward strandGMLCYP11B1: 142,871,305–142,880,000, reverse strandCYP11B1CYP11B2: 142,910,559–142,917,843, reverse strandCYP11B2LY6E: 143,012,722–143,023,835, forward strandLY6ELY6S: 143,040,839–143,048,357, reverse strandLY6SLY6L: 143,080,299–143,083,486, forward strandLY6LLY6H: 143,157,914–143,160,711, reverse strandLY6HGPIHBP1: 143,213,019–143,217,172, forward strandGPIHBP1ZFP41: 143,245,996–143,262,705, forward strandZFP41: 143,247,110–143,276,403, forward strandGLI4: 143,263,193–143,276,937, forward strandGLI4ZNF696: 143,289,676–143,299,952, forward strandZNF696TOP1MT: 143,301,453–143,359,979, reverse strandTOP1MTRHPN1: 143,368,810–143,384,221, forward strandRHPN1Diagram of CYP11B2: 9 exons on the reverse strand of chromosome 8Exon 8: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 5 known disease-causing sitesExon 9: 142,910,559–142,912,093, 1,535 basesExon 8: 142,912,530–142,912,727, 198 basesExon 7: 142,912,807–142,912,885, 79 basesExon 6: 142,913,285–142,913,451, 167 basesExon 5: 142,914,264–142,914,418, 155 basesExon 4: 142,914,705–142,914,908, 204 basesExon 3: 142,915,046–142,915,245, 200 basesExon 2: 142,917,059–142,917,214, 156 basesExon 1: 142,917,602–142,917,843, 242 bases9876543215′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 2.9 kb of the gene's 7.3 kb; 1,512 of those bases code for the protein.

How a genome test reads CYP11B2

36

positions in CYP11B2 where ClinVar classes a change as pathogenic or likely pathogenic

36 of them (100%) fall in regions short reads find hard.

  • Low mappability (19 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (36 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 7.3 kb of CYP11B2, introns included, not only the 2.9 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.). CYP11B2 gene: cytochrome P450 family 11 subfamily B member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/cyp11b2

Vancouver

Dante Labs. CYP11B2 gene: cytochrome P450 family 11 subfamily B member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cyp11b2

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