Gene
HSD3B7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- HGNC 18324↗(opens in a new tab)
- Ensembl gene ENSG00000099377↗(opens in a new tab)
- NCBI Gene 80270↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p11.2
- Coordinates
- Chromosome 16: 30,985,207–30,989,147 (GRCh38)
- Exons
- 7 exons across 3.9 kb
- Protein
- 369 amino acids
- Also known as
- C(27)-3BETA-HSD, SDR11E3
- MANE Select transcript
- ENST00000297679.10NM_025193.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads HSD3B7 yet. The test sequences your whole genome, so your data includes it all the same.
How HSD3B7 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.2 kb of the gene's 3.9 kb; 1,110 of those bases code for the protein.
How a genome test reads HSD3B7
13
positions in HSD3B7 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 3.9 kb of HSD3B7, introns included, not only the 2.2 kb of exons.
Traits linked to HSD3B7
The Human Phenotype Ontology lists these as features of the rare conditions HSD3B7 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). HSD3B7 gene: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7. Retrieved 17 October 2026, from https://dantelabs.com/genes/hsd3b7
Dante Labs. HSD3B7 gene: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hsd3b7
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