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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HSD17B13
hydroxysteroid 17-beta dehydrogenase 13
Chromosome 4 · 4q22.1
NCBI Gene: 345275Ensembl: ENSG00000170509.13HGNC: HGNC:18685UniProt: Q7Z5P4
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipid dropletpositive regulation of lipid biosynthetic processprotein bindingoxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptorcirrhosis of liverliver diseaseAbnormality of the liverAbnormality of the skeletal system
✦AI Summary

HSD17B13 encodes hydroxysteroid 17-beta dehydrogenase 13, a lipid droplet-associated protein with significant roles in hepatic lipid metabolism and liver disease susceptibility. The protein localizes to lipid droplets and facilitates dynamic organelle communication between lipid droplets and the Golgi apparatus through interaction with Rab2A, contributing to very-low-density lipoprotein (VLDL) lipidation and secretion 1. HSD17B13 is transcriptionally regulated by the circadian clock protein BMAL1 and mediates hepatocyte autophagy, playing a crucial role in circadian control of hepatic ischemia/reperfusion injury 2. A loss-of-function splice variant (rs72613567:TA) in HSD17B13 provides significant protection against chr4 liver disease, reducing risk of alcoholic liver disease by up to 53%, nonalcoholic liver disease by up to 30%, and various forms of cirrhosis 3. This protective variant is associated with reduced progression from hepatic steatosis to steatohepatitis and can mitigate liver injury associated with the PNPLA3 risk allele 3. The gene represents a major genetic risk factor for NAFLD-associated hepatocellular carcinoma 4 and is being actively pursued as a therapeutic target through oligonucleotide-based therapies for metabolic dysfunction-associated steatotic liver disease 5.

Sources cited
1
HSD17B13 localizes to lipid droplets and facilitates LD-Golgi interactions through Rab2A interaction, contributing to VLDL lipidation and secretion
PMID: 39496977
2
HSD17B13 is regulated by BMAL1 and mediates hepatocyte autophagy in circadian control of hepatic ischemia/reperfusion injury
PMID: 40049242
3
Loss-of-function HSD17B13 variant provides protection against chronic liver disease, reducing risk of alcoholic and nonalcoholic liver disease
PMID: 29562163
4
HSD17B13 genetic polymorphisms are risk factors for NAFLD-associated hepatocellular carcinoma
PMID: 34453963
5
HSD17B13 is being targeted by oligonucleotide-based therapies for MASLD treatment
PMID: 39103998
Disease Associationsⓘ20
cirrhosis of liverOpen Targets
0.52Moderate
liver diseaseOpen Targets
0.49Moderate
Abnormality of the liverOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.46Moderate
liver cancerOpen Targets
0.39Weak
Liver abscessOpen Targets
0.37Weak
HypercholesterolemiaOpen Targets
0.35Weak
non-alcoholic fatty liver diseaseOpen Targets
0.33Weak
alcoholic liver diseaseOpen Targets
0.32Weak
elevated lactate dehydrogenaseOpen Targets
0.32Weak
intrahepatic bile duct cancerOpen Targets
0.30Weak
alcoholic liver cirrhosisOpen Targets
0.24Weak
Disorder of lipid metabolismOpen Targets
0.19Weak
goutOpen Targets
0.14Weak
frozen shoulderOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
musculoskeletal system diseaseOpen Targets
0.09Suggestive
familial lipoprotein lipase deficiencyOpen Targets
0.08Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.06Suggestive
congenital disorder of glycosylation type IIOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PNPLA3Protein interaction88%TM6SF2Protein interaction68%MBOAT7Protein interaction68%TSPO2Shared pathway25%CIDECShared pathway25%HILPDAShared pathway25%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
2%
Lung
1%
Ovary
1%
Brain
1%
Heart
0%
Gene Interaction Network
Click a node to explore
HSD17B13PNPLA3TM6SF2MBOAT7TSPO2CIDECHILPDA
PROTEIN STRUCTURE
Preparing viewer…
PDB8G9V · 2.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.76 [0.51–1.15]
RankingsWhere HSD17B13 stands among ~20K protein-coding genes
  • #8,824of 20,598
    Most Researched50
  • #11,981of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedHSD17B13
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epidemiology and risk-stratification of NAFLD-associated HCC.
PMID: 34453963
J Hepatol · 2021
1.00
2
PNPLA3 as a therapeutic target for fatty liver disease: the evidence to date.
PMID: 34904923
Expert Opin Ther Targets · 2021
0.90
3
Rab2A-mediated Golgi-lipid droplet interactions support very-low-density lipoprotein secretion in hepatocytes.
PMID: 39496977
EMBO J · 2024
0.80
4
Circadian control of hepatic ischemia/reperfusion injury via HSD17B13-mediated autophagy in hepatocytes.
PMID: 40049242
J Hepatol · 2025
0.70
5
Precision medicine and nucleotide-based therapeutics to treat steatotic liver disease.
PMID: 39103998
Clin Mol Hepatol · 2025
0.60