HSD17B7
Hydroxysteroid 17-Beta Dehydrogenase 7
Gene Information Card
| Symbol | HSD17B7 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 51478 ncbi.nlm.nih.gov/gene/51478 |
| Ensembl ID | ENSG00000132196 |
| UniProt ID | Q9H2H9 |
| OMIM ID | 606756 |
| HGNC ID | 5212 |
| Aliases | 17β-HSD7, SDR32C1, dJ309K20.1 |
Description
HSD17B7 (Hydroxysteroid 17-Beta Dehydrogenase 7) is a protein-coding gene that encodes an enzyme belonging to the short-chain dehydrogenase/reductase (SDR) family. This enzyme catalyzes the conversion of estrone to estradiol and androstenedione to testosterone, playing a key role in estrogen and androgen metabolism. It also participates in cholesterol biosynthesis by reducing zymosterone to zymosterol. The gene is expressed in various tissues, including the placenta, liver, and breast.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Altered estrogen metabolism may promote hormone-dependent tumor growth | PMID: 15975938 |
| Endometrial Cancer | Dysregulation of 17β-HSD7 activity affects local estradiol levels | PMID: 14559847 |
| Osteoporosis | Estrogen deficiency due to impaired biosynthesis contributes to bone loss | PMID: 16984928 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.5 | High |
| Liver | 8.3 | Medium |
| Breast | 6.1 | Medium |
| Adrenal Gland | 4.7 | Low |
| Ovary | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 10.2 | High expression |
| HepG2 (Liver cancer) | 7.8 | Medium expression |
| JEG-3 (Placental) | 15.1 | Very high expression |
| HeLa (Cervical cancer) | 2.3 | Low 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 catalytic activity |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional effect |
| c.632A>G (p.Tyr211Cys) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Gly109Arg reduce enzyme activity, impairing estrogen biosynthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854) | • estradiol 17-beta-dehydrogenase activity (GO:0004303) |
| • steroid biosynthetic process (GO:0006694) | • steroid metabolic process (GO:0008202) |
| • oxidoreductase activity (GO:0016491) |
Pathways
• Estrogen biosynthesis (Reactome: R-HSA-193144)
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Steroid hormone biosynthesis (KEGG: hsa00140)
Protein Summary
The HSD17B7 protein is a 37.5 kDa enzyme with 341 amino acids, localized to the endoplasmic reticulum. It functions as a homodimer and requires NADPH as a cofactor. The enzyme catalyzes the reduction of estrone to estradiol (17β-estradiol) and androstenedione to testosterone, as well as the reduction of zymosterone to zymosterol in the cholesterol biosynthetic pathway. Its activity is critical for maintaining local estrogen levels in hormone-responsive tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B7 Knockout HEK293 Cell Line | EDJ-KQ51319 | Human | 51478 | Details Get a Quote |
| HSD17B7 Knockout HeLa Cell Line | EDJ-KQ56318 | Human | 51478 | Details Get a Quote |
| HSD17B7 Knockout A-549 Cell Line | EDJ-KQ64805 | Human | 51478 | Details Get a Quote |
| HSD17B7 Knockout HCT 116 Cell Line | EDJ-KQ73250 | Human | 51478 | Details Get a Quote |
