HSD17B12
Hydroxysteroid 17-Beta Dehydrogenase 12
Gene Information Card
| Symbol | HSD17B12 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q11 |
| NCBI Gene ID | 51144 ncbi.nlm.nih.gov/gene/51144 |
| Ensembl ID | ENSG00000149084 |
| UniProt ID | Q53GQ0 |
| OMIM ID | 609574 |
| HGNC ID | 18645 |
| Aliases | KAR, 17-beta-HSD 12, 3-ketoacyl-CoA reductase, SDR12C1 |
Description
HSD17B12 encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The protein functions as a 3-ketoacyl-CoA reductase in the elongation of very long-chain fatty acids and also exhibits 17-beta-hydroxysteroid dehydrogenase activity, converting estrone to estradiol. It is involved in lipid metabolism and steroid hormone biosynthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of HSD17B12 increases local estradiol production, potentially promoting estrogen-dependent tumor growth. | PMID: 20068049; COSMIC |
| Endometrial Cancer | Altered expression may contribute to estrogen-driven proliferation. | PMID: 21947058 |
| Prostate Cancer | HSD17B12 expression correlates with androgen metabolism and disease progression. | PMID: 22952190 |
| Ovarian Cancer | Upregulation linked to increased estradiol synthesis and tumorigenesis. | PMID: 20068049 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Breast | 8.2 | Medium |
| Endometrium | 10.1 | Medium |
| Prostate | 7.8 | Medium |
| Ovary | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| HepG2 (liver cancer) | 11.2 | Medium expression |
| LNCaP (prostate cancer) | 9.4 | Medium expression |
| HeLa (cervical cancer) | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.214C>T | Missense | <0.01% | Unknown functional effect |
| c.487G>A | 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 dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • 3-ketoacyl-CoA reductase activity (GO:0003854) | • estradiol 17-beta-dehydrogenase activity (GO:0004303) |
| • lipid metabolic process (GO:0006629) | • estrogen biosynthetic process (GO:0006703) |
| • oxidoreductase activity (GO:0016491) | • very long-chain fatty acid biosynthetic process (GO:0030148) |
Pathways
• Fatty acid elongation (Reactome: R-HSA-2046106)
• Estrogen biosynthesis (Reactome: R-HSA-193144)
• Metabolism of steroids (Reactome: R-HSA-8957322)
Protein Summary
HSD17B12 is a 312-amino acid protein localized to the endoplasmic reticulum. It functions as a homodimer and catalyzes the reduction of 3-ketoacyl-CoA to 3-hydroxyacyl-CoA in the elongation cycle of very long-chain fatty acids. Additionally, it converts estrone to the more potent estrogen 17-beta-estradiol, influencing estrogen receptor signaling. The protein is widely expressed, with highest levels in liver and steroidogenic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B12 Knockout HEK293 Cell Line | EDJ-KQ10944 | Human | 51144 | Details Get a Quote |
| HSD17B12 Knockout A-549 Cell Line | EDJ-KQ38739 | Human | 51144 | Details Get a Quote |
| HSD17B12 Knockout HCT 116 Cell Line | EDJ-KQ38740 | Human | 51144 | Details Get a Quote |
| HSD17B12 Knockout HeLa Cell Line | EDJ-KQ38741 | Human | 51144 | Details Get a Quote |
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