HSD17B2: 17β-Hydroxysteroid Dehydrogenase Type 2
Key enzyme in steroid hormone metabolism and estrogen inactivation
Gene Information Card
| Symbol | HSD17B2 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 3294 ncbi.nlm.nih.gov/gene/3294 |
| Ensembl ID | ENSG00000131095 |
| UniProt ID | P37059 |
| OMIM ID | 109685 |
| HGNC ID | 5212 |
| Aliases | 17β-HSD2, EDDH2, SDR11C2 |
Description
HSD17B2 encodes 17β-hydroxysteroid dehydrogenase type 2, a member of the short-chain dehydrogenase/reductase (SDR) family. This enzyme catalyzes the NAD+-dependent oxidation of 17β-hydroxysteroids, including estradiol to estrone and testosterone to androstenedione, thereby inactivating potent sex steroids. It plays a critical role in regulating local steroid hormone levels in target tissues such as placenta, endometrium, and breast.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Reduced HSD17B2 expression leads to local estradiol accumulation, promoting estrogen-dependent tumor growth. | PMID: 10652318 |
| Endometriosis | Decreased HSD17B2 activity in endometriotic tissue impairs inactivation of estradiol, contributing to lesion proliferation. | PMID: 12574206 |
| Prostate Cancer | Altered HSD17B2 expression affects androgen metabolism, potentially influencing tumor progression. | PMID: 15634788 |
| Polycystic Ovary Syndrome (PCOS) | Variants in HSD17B2 may disrupt steroidogenesis, contributing to hyperandrogenism. | PMID: 16984928 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 78.5 | High |
| Liver | 45.2 | High |
| Endometrium | 32.1 | Medium |
| Breast | 18.7 | Medium |
| Prostate | 12.3 | Low |
| Adrenal Gland | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | 15.4 | Moderate expression |
| HepG2 (liver cancer) | 42.1 | High expression |
| LNCaP (prostate cancer) | 10.2 | Low expression |
| JEG-3 (placental choriocarcinoma) | 68.9 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325G>A (p.Gly109Arg) | Missense | <0.01% | Reduced enzyme activity; associated with altered steroid metabolism |
| c.534C>T (p.Ser178Leu) | Missense | <0.01% | Decreased catalytic efficiency |
| c.787G>A (p.Gly263Arg) | Missense | <0.01% | Potential loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly109Arg and p.Ser178Leu reduce or abolish 17β-HSD2 enzymatic activity, leading to impaired estradiol inactivation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HSD17B2.
Dominant Negative (DN)
No dominant-negative mutations have been described for HSD17B2.
View complete mutation data：
Gene Ontology (GO)
| • estradiol 17-beta-dehydrogenase activity (GO:0004303) | • 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854) |
| • oxidoreductase activity (GO:0016491) | • estrogen biosynthetic process (GO:0006703) |
| • androgen metabolic process (GO:0008209) | • extracellular region (GO:0005576) |
| • endoplasmic reticulum membrane (GO:0005789) |
Pathways
• Steroid hormone biosynthesis (KEGG: hsa00140)
• Metabolism of steroids (Reactome: R-HSA-196071)
• Estrogen metabolism (Reactome: R-HSA-196069)
Protein Summary
HSD17B2 is a 387-amino acid protein localized to the endoplasmic reticulum membrane. It functions as a homodimer and uses NAD+ as a cofactor to oxidize 17β-hydroxysteroids, thereby reducing the biological activity of estrogens and androgens. The enzyme is highly expressed in placenta, liver, and endometrium, where it protects tissues from excessive steroid hormone stimulation. Its activity is crucial for maintaining hormonal balance in reproductive tissues and for the inactivation of circulating sex steroids.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B2 Knockout HEK293 Cell Line | EDJ-KQ4940 | Human | 3294 | Details Get a Quote |
| HSD17B2 Knockout HeLa Cell Line | EDJ-KQ53578 | Human | 3294 | Details Get a Quote |
| HSD17B2 Knockout A-549 Cell Line | EDJ-KQ62044 | Human | 3294 | Details Get a Quote |
| HSD17B2 Knockout HCT 116 Cell Line | EDJ-KQ70526 | Human | 3294 | Details Get a Quote |
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