Identity
HGNC
LOCATION
4q22.1
LOCUSID
ALIAS
HMFN0376,NIIL497,SCDR9,SDR16C3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 345275
MIM: 612127
HGNC: 18685
Ensembl: ENSG00000170509
Variants:
dbSNP: 345275
ClinVar: 345275
TCGA: ENSG00000170509
COSMIC: HSD17B13
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170509 | ENST00000302219 | Q7Z5P4 |
| ENSG00000170509 | ENST00000328546 | Q7Z5P4 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism | REACTOME | R-HSA-1430728 |
| Metabolism of lipids and lipoproteins | REACTOME | R-HSA-556833 |
| Lipid digestion, mobilization, and transport | REACTOME | R-HSA-73923 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36402372 | 2023 | The Protection Conferred by HSD17B13 rs72613567 on Hepatic Fibrosis Is Likely Mediated by Lowering Ballooning and Portal Inflammation. | 0 |
| 36610497 | 2023 | Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries. | 2 |
| 37470344 | 2023 | The rs72613567:TA polymorphism in HSD17B13 is associated with survival benefit after development of hepatocellular carcinoma. | 0 |
| 37620305 | 2023 | Structural basis of lipid-droplet localization of 17-beta-hydroxysteroid dehydrogenase 13. | 1 |
| 36402372 | 2023 | The Protection Conferred by HSD17B13 rs72613567 on Hepatic Fibrosis Is Likely Mediated by Lowering Ballooning and Portal Inflammation. | 0 |
| 36610497 | 2023 | Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries. | 2 |
| 37470344 | 2023 | The rs72613567:TA polymorphism in HSD17B13 is associated with survival benefit after development of hepatocellular carcinoma. | 0 |
| 37620305 | 2023 | Structural basis of lipid-droplet localization of 17-beta-hydroxysteroid dehydrogenase 13. | 1 |
| 35098490 | 2022 | HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment. | 1 |
| 35411667 | 2022 | Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms. | 15 |
| 36233142 | 2022 | Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients. | 5 |
| 36555467 | 2022 | MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery. | 5 |
| 35098490 | 2022 | HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment. | 1 |
| 35411667 | 2022 | Variants in mitochondrial amidoxime reducing component 1 and hydroxysteroid 17-beta dehydrogenase 13 reduce severity of nonalcoholic fatty liver disease in children and suppress fibrotic pathways through distinct mechanisms. | 15 |
| 36233142 | 2022 | Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients. | 5 |
Citation
Dessen P
HSD17B13 (hydroxysteroid 17-beta dehydrogenase 13)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57803/hsd17b13-(hydroxysteroid-17-beta-dehydrogenase-13)
