HSD17B14
Hydroxysteroid 17-Beta Dehydrogenase 14
Gene Information Card
| Symbol | HSD17B14 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 51171 ncbi.nlm.nih.gov/gene/51171 |
| Ensembl ID | ENSG00000104872 |
| UniProt ID | Q9BPX1 |
| OMIM ID | 612831 |
| HGNC ID | 18626 |
| Aliases | SDR2C1, DHRS10, retinol dehydrogenase SDR2C1 |
Description
HSD17B14 encodes a member of the short-chain dehydrogenase/reductase (SDR) family. The enzyme catalyzes the oxidation of estradiol to estrone and the reduction of androstenedione to testosterone, and also exhibits retinol dehydrogenase activity. It is involved in steroid hormone metabolism and retinoid signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered estradiol metabolism may influence hormone-dependent tumor growth | PMID: 20628055 |
| Endometrial cancer | Dysregulation of estrogen metabolism linked to HSD17B14 expression changes | PMID: 23555231 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.7 | Medium |
| Breast | 5.1 | Low |
| Endometrium | 4.8 | Low |
| Adipose tissue | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 6.5 | Estrogen-responsive cell line |
| HepG2 (liver cancer) | 14.1 | High expression |
| HEK293 (embryonic kidney) | 9.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Steroid hormone biosynthesis (KEGG: hsa00140)
• Retinol metabolism (KEGG: hsa00830)
Protein Summary
HSD17B14 is a 317-amino acid protein belonging to the short-chain dehydrogenase/reductase (SDR) family. It functions as a homodimer and localizes to the cytoplasm. The enzyme interconverts estradiol and estrone, and also catalyzes the reduction of androstenedione to testosterone. Additionally, it exhibits retinol dehydrogenase activity, contributing to retinoid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B14 Knockout HEK293 Cell Line | EDJ-KQ10961 | Human | 51171 | Details Get a Quote |
| HSD17B14 Knockout A-549 Cell Line | EDJ-KQ38769 | Human | 51171 | Details Get a Quote |
| HSD17B14 Knockout HCT 116 Cell Line | EDJ-KQ38770 | Human | 51171 | Details Get a Quote |
| HSD17B14 Knockout HeLa Cell Line | EDJ-KQ56241 | Human | 51171 | Details Get a Quote |
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