Gene
HSD11B1
hydroxysteroid 11-beta dehydrogenase 1
- HGNC 5208↗(opens in a new tab)
- Ensembl gene ENSG00000117594↗(opens in a new tab)
- NCBI Gene 3290↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q32.2
- Coordinates
- Chromosome 1: 209,704,846–209,734,929 (GRCh38)
- Exons
- 6 exons across 30.1 kb
- Protein
- 292 amino acids
- Also known as
- SDR26C1
- Previous symbols
- HSD11B, HSD11
- MANE Select transcript
- ENST00000367027.5NM_005525.4
- 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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How HSD11B1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
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 1.4 kb of the gene's 30.1 kb; 879 of those bases code for the protein.
Traits linked to HSD11B1
The Human Phenotype Ontology lists these as features of the rare conditions HSD11B1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the endocrine system
- Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio
- Abnormal circulating deoxycorticosterone level
- Congenital adrenal hyperplasia
- Elevated serum 11-deoxycortisol
- Increased circulating androgen concentration
- Premature pubic hair growth
- Decreased circulating renin concentration
- Early onset of puberty
Show 1 more trait
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). HSD11B1 gene: hydroxysteroid 11-beta dehydrogenase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/hsd11b1
Dante Labs. HSD11B1 gene: hydroxysteroid 11-beta dehydrogenase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hsd11b1
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