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Gene

HSD11B2

hydroxysteroid 11-beta dehydrogenase 2

Summary

Cytogenetic location
16q22.1
Coordinates
Chromosome 16: 67,431,121–67,437,553 (GRCh38)
Exons
5 exons across 6.4 kb
Protein
405 amino acids
Inheritance
Autosomal recessive
Also known as
SDR9C3
MANE Select transcript
ENST00000326152.6NM_000196.4
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

    • Apparent Mineralocorticoid ExcessAutosomal recessive

      A condition caused by changes in HSD11B2 in which cortisol acts like aldosterone in the kidney, causing high blood pressure and low potassium, usually from childhood.

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

      Knowing about it supports treatment with aldosterone-blocking drugs and a low-salt diet.

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 HSD11B2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where HSD11B2 sits. HSD11B2 and 44 genes near it on chromosome 16, from 66,934,337 to 67,934,336.Chromosome 1616q22.1p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.367 Mb67.2 Mb67.4 Mb67.6 Mb67.8 MbCIAO2B: 66,931,938–66,934,929, reverse strandCIAO2BCES2: 66,934,433–66,945,096, forward strandCES2CES3: 66,961,219–66,975,162, forward strandCES3CES4A: 66,988,574–67,010,417, forward strandCES4ACBFB: 67,028,984–67,101,058, forward strandCBFBPHAF1: 67,109,941–67,148,544, forward strandPHAF1B3GNT9: 67,142,023–67,151,260, reverse strandTRADD: 67,153,969–67,163,760, reverse strandFBXL8: 67,159,932–67,164,570, forward strand: 67,163,385–67,165,815, forward strandHSF4: 67,164,681–67,169,945, forward strandHSF4NOL3: 67,170,154–67,176,189, forward strandMATCAP1: 67,175,599–67,184,228, reverse strandEXOC3L1: 67,184,313–67,190,242, reverse strandE2F4: 67,192,117–67,198,919, forward strandE2F4ELMO3: 67,199,105–67,204,029, forward strandELMO3TMEM208: 67,227,103–67,229,281, forward strandTMEM208FHOD1: 67,229,387–67,247,539, reverse strandFHOD1SLC9A5: 67,237,683–67,272,191, forward strandSLC9A5PLEKHG4: 67,277,510–67,289,499, forward strandPLEKHG4KCTD19: 67,289,428–67,326,766, reverse strandKCTD19LRRC36: 67,326,798–67,385,221, forward strandLRRC36TPPP3: 67,389,027–67,393,518, reverse strandTPPP3ZDHHC1: 67,394,152–67,416,833, reverse strandZDHHC1HSD11B2: 67,431,121–67,437,553, forward strandHSD11B2ATP6V0D1: 67,437,523–67,481,227, reverse strandATP6V0D1AGRP: 67,482,571–67,483,552, reverse strandAGRPRIPOR1: 67,518,418–67,546,788, forward strandRIPOR1CTCF: 67,561,831–67,639,189, forward strandCTCFCARMIL2: 67,644,988–67,657,569, forward strandCARMIL2ACD: 67,657,512–67,660,810, reverse strandACDPARD6A: 67,660,350–67,664,266, forward strandPARD6AENKD1: 67,662,945–67,667,954, reverse strandC16orf86: 67,666,802–67,668,757, forward strandGFOD2: 67,674,527–67,719,352, reverse strandRANBP10: 67,723,070–67,806,563, reverse strandRANBP10TSNAXIP1: 67,806,765–67,832,148, forward strandTSNAXIP1CENPT: 67,828,157–67,847,811, reverse strandCENPTTHAP11: 67,842,320–67,844,195, forward strandTHAP11NUTF2: 67,844,369–67,872,569, forward strandNUTF2EDC4: 67,873,049–67,884,520, forward strandNRN1L: 67,884,868–67,888,855, forward strandNRN1LPSKH1: 67,893,244–67,929,676, forward strandPSKH1CTRL: 67,927,640–67,932,365, reverse strandCTRL: 67,929,614–67,936,017, reverse strandDiagram of HSD11B2: 5 exons on the forward strand of chromosome 16Exon 2: 2 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 4 known disease-causing sitesExon 1: 67,431,121–67,431,513, 393 basesExon 2: 67,435,628–67,435,840, 213 basesExon 3: 67,435,957–67,436,142, 186 basesExon 4: 67,436,249–67,436,386, 138 basesExon 5: 67,436,588–67,437,553, 966 bases123455′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 1.9 kb of the gene's 6.4 kb; 1,218 of those bases code for the protein.

How a genome test reads HSD11B2

11

positions in HSD11B2 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 6.4 kb of HSD11B2, introns included, not only the 1.9 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.). HSD11B2 gene: hydroxysteroid 11-beta dehydrogenase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/hsd11b2

Vancouver

Dante Labs. HSD11B2 gene: hydroxysteroid 11-beta dehydrogenase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hsd11b2

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