HSD17B13
Hydroxysteroid 17-Beta Dehydrogenase 13
Gene Information Card
| Symbol | HSD17B13 |
|---|---|
| Full Name | Hydroxysteroid 17-Beta Dehydrogenase 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q22.1 |
| NCBI Gene ID | 345275 ncbi.nlm.nih.gov/gene/345275 |
| Ensembl ID | ENSG00000170509 |
| UniProt ID | Q7Z5P4 |
| OMIM ID | 612127 |
| HGNC ID | 30189 |
| Aliases | SDR16C3, RDHS, 17-beta-HSD 13 |
Description
HSD17B13 encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The protein functions as a retinol dehydrogenase, catalyzing the oxidation of retinol to retinaldehyde. It is predominantly expressed in the liver and has been implicated in lipid metabolism and the pathogenesis of non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH). A common loss-of-function variant (rs72613567) is associated with reduced risk of chronic liver disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Loss-of-function variant reduces hepatic lipid accumulation and inflammation | GWAS and cohort studies (PMID: 29771307, 29771306) |
| Non-alcoholic steatohepatitis (NASH) | Protective variant decreases steatosis and fibrosis progression | Human genetic association and functional studies (PMID: 29771308) |
| Alcoholic liver disease | Variant associated with lower risk of alcoholic cirrhosis | Cohort study (PMID: 29771307) |
| Chronic liver disease | HSD17B13 loss-of-function protects against liver injury | Meta-analysis (PMID: 29771306) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 32.4 | High |
| Adipose tissue | 1.2 | Low |
| Kidney | 0.8 | Low |
| Lung | 0.5 | Not detected |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Huh7 | 12.8 | Hepatoma cell line |
| Primary human hepatocytes | 28.5 | Normal liver cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs72613567 (TA insertion) | Insertion | ~30% in European populations | Loss-of-function; reduced risk of NAFLD and NASH |
| rs6834314 | SNP | ~35% in European populations | Associated with decreased liver enzyme levels |
| rs62305723 | Missense (Pro260Ser) | <1% | Likely benign; no known disease association |
Mutation functional classification
Loss of Function (LOF)
rs72613567 (TA insertion) leads to a truncated, non-functional protein, reducing hepatic lipid droplet accumulation and protecting against steatohepatitis.
Gain of Function (GOF)
No gain-of-function variants have been reported in HSD17B13.
Dominant Negative (DN)
No dominant-negative variants have been described for HSD17B13.
View complete mutation data：
Gene Ontology (GO)
| • retinol dehydrogenase activity (GO:0004745) | • NAD binding (GO:0051287) |
| • lipid metabolic process (GO:0006629) | • retinoid metabolic process (GO:0001523) |
| • cytoplasm (GO:0005737) |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Metabolism of lipids (Reactome: R-HSA-556833)
Protein Summary
HSD17B13 is a 317-amino acid protein localized to the cytoplasm, with highest expression in hepatocytes. It belongs to the short-chain dehydrogenase/reductase family and exhibits retinol dehydrogenase activity, converting retinol to retinaldehyde. The protein is associated with lipid droplets and plays a role in hepatic lipid metabolism. Loss-of-function variants, particularly rs72613567, confer protection against non-alcoholic and alcoholic liver disease by reducing steatosis, inflammation, and fibrosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSD17B13 Knockout HEK293 Cell Line | EDJ-KQ17880 | Human | 345275 | Details Get a Quote |
| HSD17B13 Knockout HeLa Cell Line | EDJ-KQ59788 | Human | 345275 | Details Get a Quote |
| HSD17B13 Knockout A-549 Cell Line | EDJ-KQ68256 | Human | 345275 | Details Get a Quote |
| HSD17B13 Knockout HCT 116 Cell Line | EDJ-KQ76631 | Human | 345275 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
