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Gene

HSD3B2

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Summary

Cytogenetic location
1p12
Coordinates
Chromosome 1: 119,415,150–119,423,034 (GRCh38)
Exons
4 exons across 7.9 kb
Protein
372 amino acids
Inheritance
Autosomal recessive
Also known as
SDR11E2
MANE Select transcript
ENST00000369416.4NM_000198.4
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

  • Congenital Adrenal Hyperplasia

    • Autosomal recessive

      Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Glucocorticoid replacement (hydrocortisone in children, prednisone/dexamethasone in adults); mineralocorticoid replacement for salt-wasting (fludrocortisone); adrenalectomy for severe medically refractory hyperandrogenism; stress dosing protocols

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 HSD3B2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where HSD3B2 sits. HSD3B2 and 10 genes near it on chromosome 1, from 118,919,092 to 119,919,091.Chromosome 11p12p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44119 Mb119.2 Mb119.4 Mb119.6 Mb119.8 MbTBX15: 118,883,046–118,989,556, reverse strandTBX15WARS2: 119,029,164–119,140,679, reverse strandWARS2HAO2: 119,368,727–119,394,258, forward strandHAO2HSD3B2: 119,415,150–119,423,034, forward strandHSD3B2HSD3B1: 119,493,057–119,529,426, forward strandHSD3B1ZNF697: 119,619,377–119,648,454, reverse strandZNF697PHGDH: 119,648,411–119,744,227, forward strandPHGDHHMGCS2: 119,747,979–119,769,092, reverse strandHMGCS2REG4: 119,794,017–119,811,580, reverse strandREG4ADAM30: 119,893,533–119,896,515, reverse strandADAM30NOTCH2: 119,909,256–120,100,779, reverse strandNOTCH2Diagram of HSD3B2: 4 exons on the forward strand of chromosome 1Exon 2: 8 known disease-causing sitesExon 3: 5 known disease-causing sitesExon 4: 44 known disease-causing sitesExon 1: 119,415,150–119,415,202, 53 basesExon 2: 119,415,331–119,415,561, 231 basesExon 3: 119,419,418–119,419,582, 165 basesExon 4: 119,421,809–119,423,034, 1,226 bases12345′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 1.7 kb of the gene's 7.9 kb; 1,119 of those bases code for the protein.

How a genome test reads HSD3B2

59

positions in HSD3B2 where ClinVar classes a change as pathogenic or likely pathogenic

8 of them (14%) fall in regions short reads find hard.

  • Low mappability (8 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 7.9 kb of HSD3B2, introns included, not only the 1.7 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.). HSD3B2 gene: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/hsd3b2

Vancouver

Dante Labs. HSD3B2 gene: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hsd3b2

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