Gene Gene information from NCBI Gene database.
Entrez ID 345275
Gene name Hydroxysteroid 17-beta dehydrogenase 13
Gene symbol HSD17B13
Synonyms (NCBI Gene)
FLDPHMFN0376NIIL497SCDR9SDR16C3
Chromosome 4
Chromosome location 4q22.1
miRNA miRNA information provided by mirtarbase database.
155
miRTarBase ID miRNA Experiments Reference
MIRT1055373 hsa-miR-100 CLIP-seq
MIRT1055374 hsa-miR-1283 CLIP-seq
MIRT1055375 hsa-miR-1908 CLIP-seq
MIRT1055376 hsa-miR-2114 CLIP-seq
MIRT1055377 hsa-miR-3122 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0004303 Function Estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612127 18685 ENSG00000170509
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z5P4
Protein name 17-beta-hydroxysteroid dehydrogenase 13 (17-beta-HSD 13) (EC 1.1.1.-) (EC 1.1.1.62) (Hepatic retinol/retinal dehydrogenase) (EC 1.1.1.105) (Short chain dehydrogenase/reductase family 16C member 3) (Short-chain dehydrogenase/reductase 9)
Protein function Plays a pivotal role in hepatic lipid metabolism (PubMed:29562163). In vitro, it catalyzes the oxidation of a variety of lipid substrates, including 17beta-estradiol, retinol, retinal, and leukotriene B4 (PubMed:29562163, PubMed:30415504, PubMed
PDB 8G9V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00106 adh_short 37 233 short chain dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the liver (PubMed:29562163). Also detected in ovary, bone marrow, kidney, brain, lung, skeletal muscle, bladder and testis. {ECO:0000269|PubMed:17311113, ECO:0000269|PubMed:29562163}.
Sequence
Sequence length 300
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Lipid particle organization
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FATTY LIVER DISEASE, PROTECTION AGAINST Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HSD17B13 POLYMORPHISM Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adrenoleukodystrophy Associate 31967400
★☆☆☆☆
Found in Text Mining only
Alcoholism Associate 31630428, 32973038
★☆☆☆☆
Found in Text Mining only
Ascites Associate 36233142
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 10574257, 10755407
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 30628708, 34902334, 37644826
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 30628708, 31630428, 32973038, 34902334, 37644826
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Inhibit 31630428
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Associate 37644826
★☆☆☆☆
Found in Text Mining only
Chemical and Drug Induced Liver Injury Associate 30323112, 33024398, 33618508
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 10945506
★☆☆☆☆
Found in Text Mining only