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Gene

HSD17B3

hydroxysteroid 17-beta dehydrogenase 3

Summary

Cytogenetic location
9q22.32
Coordinates
Chromosome 9: 96,235,306–96,302,176 (GRCh38)
Exons
11 exons across 66.9 kb
Protein
310 amino acids
Also known as
SDR12C2
MANE Select transcript
ENST00000375263.8NM_000197.2
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

  • 46,XY Differences of Sex Development and Gonadal Dysgenesis

    • 46,XY differences of sex development

      Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.

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

      Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.

How HSD17B3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where HSD17B3 sits. HSD17B3 and 8 genes near it on chromosome 9, from 95,768,741 to 96,768,740.Chromosome 99q22.32p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.395.8 Mb96 Mb96.2 Mb96.4 Mb96.6 MbERCC6L2: 95,871,264–96,121,154, forward strandERCC6L2HSD17B3: 96,235,306–96,302,176, reverse strandHSD17B3: 96,235,331–96,352,058, reverse strandSLC35D2: 96,312,092–96,383,845, reverse strandSLC35D2ZNF367: 96,385,838–96,418,470, reverse strandZNF367HABP4: 96,450,098–96,491,336, forward strandHABP4CDC14B: 96,490,241–96,619,869, reverse strandCDC14BPRXL2C: 96,639,577–96,655,337, reverse strandPRXL2CZNF510: 96,754,553–96,778,129, reverse strandZNF510Diagram of HSD17B3: 11 exons on the reverse strand of chromosome 9Exon 11: 2 known disease-causing sitesExon 10: 6 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 6 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 11: 96,235,306–96,235,570, 265 basesExon 10: 96,240,758–96,240,907, 150 basesExon 9: 96,244,329–96,244,394, 66 basesExon 8: 96,245,345–96,245,426, 82 basesExon 7: 96,246,556–96,246,590, 35 basesExon 6: 96,249,751–96,249,786, 36 basesExon 5: 96,251,418–96,251,485, 68 basesExon 4: 96,252,803–96,252,910, 108 basesExon 3: 96,254,868–96,254,943, 76 basesExon 2: 96,298,416–96,298,462, 47 basesExon 1: 96,301,951–96,302,176, 226 bases11109876543215′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 1.2 kb of the gene's 66.9 kb; 933 of those bases code for the protein.

How a genome test reads HSD17B3

42

positions in HSD17B3 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 66.9 kb of HSD17B3, introns included, not only the 1.2 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.). HSD17B3 gene: hydroxysteroid 17-beta dehydrogenase 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/hsd17b3

Vancouver

Dante Labs. HSD17B3 gene: hydroxysteroid 17-beta dehydrogenase 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hsd17b3

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