HSD11B2: 11-beta-hydroxysteroid dehydrogenase type 2
Key regulator of cortisol metabolism and mineralocorticoid receptor specificity
Gene Information Card
| Symbol | HSD11B2 |
|---|---|
| Full Name | hydroxysteroid 11-beta dehydrogenase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 3291 ncbi.nlm.nih.gov/gene/3291 |
| Ensembl ID | ENSG00000131669 |
| UniProt ID | P80365 |
| OMIM ID | 614232 |
| HGNC ID | 5210 |
| Aliases | AME, AME1, HSD11K, SDR9C3 |
Description
The HSD11B2 gene encodes 11-beta-hydroxysteroid dehydrogenase type 2, an enzyme that converts active cortisol to inactive cortisone. This protects the mineralocorticoid receptor from cortisol binding, ensuring aldosterone specificity. Mutations cause apparent mineralocorticoid excess (AME), leading to hypertension and hypokalemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Apparent mineralocorticoid excess (AME) | Loss-of-function mutations reduce cortisol inactivation, allowing cortisol to activate mineralocorticoid receptors, causing sodium retention, hypertension, and hypokalemia. | OMIM #218030; multiple case reports |
| Hypertension, salt-sensitive | Reduced HSD11B2 activity (genetic or acquired) impairs renal cortisol clearance, contributing to salt-sensitive hypertension. | ClinVar; association studies |
| Preeclampsia | Placental HSD11B2 deficiency may increase fetal cortisol exposure, linked to hypertensive disorders of pregnancy. | NCBI Gene; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Colon | 8.3 | Medium |
| Placenta | 6.1 | Medium |
| Salivary gland | 4.2 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| Caco-2 | 9.8 | Medium expression |
| HepG2 | 1.1 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.662C>T (p.Arg221*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1061C>T (p.Pro354Leu) | Missense | Rare | Reduced enzyme activity |
| c.944G>A (p.Arg315His) | Missense | Rare | Impaired cortisol oxidation |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most HSD11B2 mutations are loss-of-function, reducing or abolishing cortisol-to-cortisone conversion, leading to apparent mineralocorticoid excess.
Gain of Function (GOF)
Not reported for HSD11B2.
Dominant Negative (DN)
Not reported for HSD11B2.
View complete mutation data：
Gene Ontology (GO)
| • 11-beta-hydroxysteroid dehydrogenase activity (GO:0003845) | • NAD binding (GO:0051289) |
| • androgen biosynthetic process (GO:0006702) | • estrogen biosynthetic process (GO:0006703) |
| • female pregnancy (GO:0007565) | • excretion (GO:0007588) |
| • regulation of blood pressure (GO:0008217) | • cell differentiation (GO:0030154) |
| • hormone metabolic process (GO:0042445) | • oxidation-reduction process (GO:0055114) |
Pathways
• Corticosteroid metabolism (Reactome: R-HSA-196071)
• Metabolism of steroids (Reactome: R-HSA-8957322)
• Aldosterone-regulated sodium reabsorption (KEGG: hsa04960)
Protein Summary
11-beta-hydroxysteroid dehydrogenase type 2 is a 405-amino acid membrane-bound enzyme localized to the endoplasmic reticulum. It catalyzes the NAD-dependent oxidation of cortisol to cortisone, protecting the mineralocorticoid receptor from cortisol activation. Deficiency results in apparent mineralocorticoid excess, characterized by hypertension, hypokalemia, and low renin/aldosterone levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD11B2 Knockout HEK293 Cell Line | EDJ-KQ4939 | Human | 3291 | Details Get a Quote |
| HSD11B2 Knockout HeLa Cell Line | EDJ-KQ26578 | Human | 3291 | Details Get a Quote |
| HSD11B2 Knockout A-549 Cell Line | EDJ-KQ27789 | Human | 3291 | Details Get a Quote |
| HSD11B2 Knockout HCT 116 Cell Line | EDJ-KQ27790 | Human | 3291 | Details Get a Quote |
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