HSD17B13

Summary

HSD17B13 (hydroxysteroid 17-beta dehydrogenase 13, HGNC:18685) is a protein-coding gene on chromosome 4q22.1, encoding 17-beta-hydroxysteroid dehydrogenase 13 (Q7Z5P4). Plays a pivotal role in hepatic lipid metabolism.

Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. Acts upstream of or within positive regulation of lipid biosynthetic process. Located in lipid droplet.

Source: NCBI Gene 345275 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 57 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency dosage sensitivity unlikely, triplosensitivity no evidence
• MANE Select transcript: NM_178135

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18685
Approved symbol	HSD17B13
Name	hydroxysteroid 17-beta dehydrogenase 13
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	SCDR9, SDR16C3
Ensembl gene	ENSG00000170509
Ensembl biotype	protein_coding
OMIM	612127
Entrez	345275

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000302219, ENST00000328546, ENST00000858174, ENST00000858175, ENST00000858176, ENST00000858177, ENST00000858178, ENST00000858179, ENST00000858180

RefSeq mRNA: 2 — MANE Select: NM_178135 NM_001136230, NM_178135

CCDS: CCDS3618, CCDS47097

Canonical transcript exons

ENST00000328546 — 7 exons

Exon	Start	End
ENSE00001135509	87310243	87310359
ENSE00001175830	87313823	87313960
ENSE00001175837	87315493	87315599
ENSE00001175844	87317092	87317223
ENSE00001854529	87322632	87322882
ENSE00003561945	87318329	87318436
ENSE00003843617	87303794	87305308

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 96.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.2430 / max 490.7437, expressed in 38 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53008	0.8426	35
53009	0.2257	16
53007	0.1100	11
53010	0.0511	7
203276	0.0135	7

Top tissues by expression

130 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
liver	UBERON:0002107	96.40	gold quality
right lobe of liver	UBERON:0001114	94.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.10	gold quality
vagina	UBERON:0000996	74.37	gold quality
subcutaneous adipose tissue	UBERON:0002190	71.32	gold quality
adipose tissue	UBERON:0001013	70.93	gold quality
omental fat pad	UBERON:0010414	70.28	gold quality
thoracic mammary gland	UBERON:0005200	69.45	gold quality
myometrium	UBERON:0001296	66.58	gold quality
ectocervix	UBERON:0012249	66.20	gold quality
skin of leg	UBERON:0001511	65.19	gold quality
body of uterus	UBERON:0009853	65.08	gold quality
zone of skin	UBERON:0000014	64.76	gold quality
mucosa of transverse colon	UBERON:0004991	64.34	gold quality
mucosa of stomach	UBERON:0001199	64.19	gold quality
cerebellar cortex	UBERON:0002129	64.07	gold quality
uterine cervix	UBERON:0000002	64.04	gold quality
cerebellar hemisphere	UBERON:0002245	64.03	gold quality
cerebellum	UBERON:0002037	63.94	gold quality
right lung	UBERON:0002167	63.83	gold quality
skin of abdomen	UBERON:0001416	63.76	gold quality
smooth muscle tissue	UBERON:0001135	63.49	gold quality
placenta	UBERON:0001987	63.46	gold quality
body of pancreas	UBERON:0001150	62.82	gold quality
prostate gland	UBERON:0002367	62.54	gold quality
blood	UBERON:0000178	62.48	gold quality
endocervix	UBERON:0000458	61.34	gold quality
right hemisphere of cerebellum	UBERON:0014890	61.20	gold quality
granulocyte	CL:0000094	60.27	gold quality
calcaneal tendon	UBERON:0003701	60.24	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting HSD17B13, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-548D-3P	99.87	70.67	4362

Functional genomics

ClinGen dosage: haploinsufficiency 40 (dosage sensitivity unlikely), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 31)

• A new human short-chain dehydrogenase/reductase gene SCDR9 is cloned and expressed. (PMID:17311113)
• 17beta-HSD13 as a pathogenic protein in the development of nonalcoholic fatty liver disease. (PMID:25028495)
• A loss-of-function variant in HSD17B13 was associated with a reduced risk of chronic liver disease and of progression from steatosis to steatohepatitis. (PMID:29562163)
• Lower HSD17B13 in peritumoral tissues was associated with worse recurrence free survival and overall survival of hepatocellular carcinoma patients and altered G1/S progression of HCC cells. (PMID:29748147)
• the rs72613567 A-INS allele reduces the risk of NASH and progressive liver damage (PMID:30323112)
• We conducted a test for association between the rs72613567:TA variant and protection against severe liver fibrosis in 88 patients of Caucasian descent with HCV monoinfection. We conclude that rs72613567:TA is correlated with protection against liver fibrosis associated with HCV infection. (PMID:30403944)
• lipid droplet-associated retinol dehydrogenase with a role in nonalcoholic fatty liver disease (PMID:30415504)
• rs72613567 loss of function variant is protective of hepatocellular carcinoma development in patients with alcoholic liver disease (PMID:30908678)
• A common loss-of-function variant in HSD17B13 (rs72613567:TA) was recently found to protect from chronic liver disease. Whether the variant confers protection from specific risk factors for liver disease is unclear. We tested the association of rs72613567 with plasma levels of alanine transaminase (ALT) and clinical liver disease and mortality in 111,612 individuals from the Danish general population (PMID:31155741)
• Genetic Variation in HSD17B13 Reduces the Risk of Developing Cirrhosis and Hepatocellular Carcinoma in Alcohol Misusers. (PMID:31630428)
• The rs72613567: TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children. (PMID:31789772)
• Association of HSD17B13 rs72613567:TA with non-alcoholic fatty liver disease in Hispanics/Latinos. (PMID:31965669)
• Impact of HSD17B13 rs72613567 genotype on hepatic decompensation and mortality in patients with portal hypertension. (PMID:31967400)
• Combined Effect of PNPLA3, TM6SF2, and HSD17B13 Variants on Risk of Cirrhosis and Hepatocellular Carcinoma in the General Population. (PMID:32190914)
• Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan. (PMID:32443539)
• HSD17B13 rs72613567 protects against liver diseases and histological progression of nonalcoholic fatty liver disease: a systematic review and meta-analysis. (PMID:32964989)
• Pediatric non-alcoholic fatty liver disease and kidney function: Effect of HSD17B13 variant. (PMID:33024398)
• Loss-of-function HSD17B13 variants, non-alcoholic steatohepatitis and adverse liver outcomes: Results from a multi-ethnic Asian cohort. (PMID:33618508)
• The HSD17B13 rs72613567 variant is associated with lower levels of albuminuria in patients with biopsy-proven nonalcoholic fatty liver disease. (PMID:33853719)
• Combined effects of PNPLA3, TM6SF2 and HSD17B13 variants on severity of biopsy-proven non-alcoholic fatty liver disease. (PMID:34076851)
• The Protection Conferred by HSD17B13 rs72613567 Polymorphism on Risk of Steatohepatitis and Fibrosis May Be Limited to Selected Subgroups of Patients With NAFLD. (PMID:34506332)
• Association of HSD17B13 rs72613567: TA allelic variant with liver disease: review and meta-analysis. (PMID:34930143)
• HSD17B13 and other liver fat-modulating genes predict development of hepatocellular carcinoma among HCV-positive cirrhotics with and without viral clearance after DAA treatment. (PMID:35098490)
• 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. (PMID:35411667)
• Impact of a Loss-of-Function Variant in HSD17B13 on Hepatic Decompensation and Mortality in Cirrhotic Patients. (PMID:36233142)
• The Protection Conferred by HSD17B13 rs72613567 on Hepatic Fibrosis Is Likely Mediated by Lowering Ballooning and Portal Inflammation. (PMID:36402372)
• MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery. (PMID:36555467)
• Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries. (PMID:36610497)
• The rs72613567:TA polymorphism in HSD17B13 is associated with survival benefit after development of hepatocellular carcinoma. (PMID:37470344)
• Structural basis of lipid-droplet localization of 17-beta-hydroxysteroid dehydrogenase 13. (PMID:37620305)
• Integrating genetic and socioeconomic data to predict the progression of nonalcoholic fatty liver disease. (PMID:38778456)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Hsd17b13	ENSMUSG00000034528
rattus_norvegicus	Hsd17b13	ENSRNOG00000002212

Paralogs (25): HSD17B6 (ENSG00000025423), RDH11 (ENSG00000072042), HSD17B10 (ENSG00000072506), DHRS9 (ENSG00000073737), HSD17B2 (ENSG00000086696), HSD17B14 (ENSG00000087076), DHRS12 (ENSG00000102796), HSDL1 (ENSG00000103160), HSD17B1 (ENSG00000108786), RDH10 (ENSG00000121039), HSD17B3 (ENSG00000130948), HSD17B7 (ENSG00000132196), HSD17B4 (ENSG00000133835), RDH5 (ENSG00000135437), RDH16 (ENSG00000139547), RDH12 (ENSG00000139988), HSD17B12 (ENSG00000149084), BDH1 (ENSG00000161267), DHRS3 (ENSG00000162496), SDR9C7 (ENSG00000170426), SDR16C5 (ENSG00000170786), HSD11B2 (ENSG00000176387), WWOX (ENSG00000186153), HSD17B11 (ENSG00000198189), HSD17B8 (ENSG00000204228)

Protein

Protein identifiers

17-beta-hydroxysteroid dehydrogenase 13 — Q7Z5P4 (reviewed: Q7Z5P4)

Alternative names: Hepatic retinol/retinal dehydrogenase, Short chain dehydrogenase/reductase family 16C member 3, Short-chain dehydrogenase/reductase 9

All UniProt accessions (1): Q7Z5P4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a pivotal role in hepatic lipid metabolism. In vitro, it catalyzes the oxidation of a variety of lipid substrates, including 17beta-estradiol, retinol, retinal, and leukotriene B4. Has retinol/retinal dehydrogenase activity in vitro. Does not have retinol/retinal dehydrogenase activity in vitro.

Subcellular location. Lipid droplet. Endoplasmic reticulum Cytoplasm.

Tissue specificity. Highly expressed in the liver. Also detected in ovary, bone marrow, kidney, brain, lung, skeletal muscle, bladder and testis.

Polymorphism. The insertion of an adenine adjacent to the donor splice site of exon 6 (dbSNP:rs72613567) is associated with reduced risk of non-alcoholic fatty liver disease and protection from chronic liver disease [MIM:620116]. It is also associated with reduced risk of hepatocellular carcinoma. Variant rs72613567 alters mRNA splicing and results in the synthesis of a truncated, unstable protein. Liver samples from variant carriers contain reduced levels of isoform 1 and isoform 2 transcripts.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z5P4-1	2, Isoform A	yes
Q7Z5P4-2	1, Isoform B

RefSeq proteins (2): NP_001129702, NP_835236* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002347	SDR_fam	Family
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF00106

Catalyzed reactions (Rhea), 3 shown:

• all-trans-retinol + NAD(+) = all-trans-retinal + NADH + H(+) (RHEA:21284)
• 17beta-estradiol + NAD(+) = estrone + NADH + H(+) (RHEA:24612)
• all-trans-retinal + NAD(+) + H2O = all-trans-retinoate + NADH + 2 H(+) (RHEA:42080)

UniProt features (48 total): mutagenesis site 16, helix 14, strand 8, binding site 3, signal peptide 1, chain 1, active site 1, turn 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8G9V	X-RAY DIFFRACTION	2.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z5P4-F1	93.79	0.78

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 185 (proton acceptor)

Ligand- & substrate-binding residues (3): 40–67; 172; 189

Post-translational modifications (1): 33

Mutagenesis-validated functional residues (16):

Position	Phenotype
47–49	loss of retinol/retinal dehydrogenase activity.
69–84	does not localize to lipid droplets.
85–93	does not localize to lipid droplets.
94–106	does not localize to lipid droplets.
97	decreased retinol/retinal dehydrogenase activity; when associated with a-101.
101	decreased retinol/retinal dehydrogenase activity; when associated with a-97.
144	loss of retinol/retinal dehydrogenase activity.
153	loss of retinol/retinal dehydrogenase activity; when associated with a-156.
156	loss of retinol/retinal dehydrogenase activity; when associated with a-153.
172	loss of retinol/retinal dehydrogenase activity.
185	loss of retinol/retinal dehydrogenase activity; when associated with a-189.
189	loss of retinol/retinal dehydrogenase activity; when associated with a-185.
199	loss of retinol/retinal dehydrogenase activity; when associated with a-202.
202	loss of retinol/retinal dehydrogenase activity; when associated with a-199.
208	decreased retinol/retinal dehydrogenase activity.
22–28	does not localize to lipid droplets.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8964572	Lipid particle organization

MSigDB gene sets: 57 (showing top): GOBP_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, chr4q22, GOBP_POSITIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_POSITIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, GOMF_ESTRADIOL_17_BETA_DEHYDROGENASE_NAD_P_PLUS_ACTIVITY, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, GOCC_LIPID_DROPLET, MTOR_UP.V1_UP, REACTOME_METABOLISM_OF_LIPIDS, REACTOME_LIPID_PARTICLE_ORGANIZATION

GO Biological Process (2): lipid metabolic process (GO:0006629), positive regulation of lipid biosynthetic process (GO:0046889)

GO Molecular Function (6): estradiol 17-beta-dehydrogenase [NAD(P)+] activity (GO:0004303), all-trans-retinol dehydrogenase (NAD+) activity (GO:0004745), steroid dehydrogenase activity (GO:0016229), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), lipid droplet (GO:0005811), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
cellular anatomical structure	2
primary metabolic process	1
lipid biosynthetic process	1
positive regulation of biosynthetic process	1
positive regulation of lipid metabolic process	1
regulation of lipid biosynthetic process	1
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	1
alcohol dehydrogenase (NAD+) activity	1
oxidoreductase activity	1
oxidoreductase activity, acting on CH-OH group of donors	1
binding	1
catalytic activity	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2897 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSD17B13	TM6SF2	Q9BZW4	880
HSD17B13	PNPLA3	Q9NST1	879
HSD17B13	MBOAT7	Q96N66	874
HSD17B13	MTARC1	Q5VT66	667
HSD17B13	TMC4	Q7Z404	642
HSD17B13	PPP1R3B	Q86XI6	614
HSD17B13	LYPLAL1	Q5VWZ2	520
HSD17B13	GCKR	Q14397	466
HSD17B13	SAMM50	Q9Y512	448
HSD17B13	RIPOR3	Q96MK2	447
HSD17B13	GPT	P24298	425
HSD17B13	EXOC1L	A0A1B0GW35	407
HSD17B13	TRIB1	Q96RU8	377
HSD17B13	PYGO1	Q9Y3Y4	375
HSD17B13	SORD	Q00796	374

IntAct

355 interactions, top by confidence:

A	B	Type	Score
HSD17B13	TSPAN10	psi-mi:“MI:0915”(physical association)	0.590
STX7	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
PLP2	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
CLDN10	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
NAPB	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
INSIG2	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
CYP4F2	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
UNC50	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
PNLIPRP1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
TREX1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
PLN	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
CDIPT	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
TMEM229B	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
TMEM140	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SNORC	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
REEP6	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SCARF1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
FATE1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
NAT8	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SPG21	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SCD	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
STRIT1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
ARL6IP1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
HSD3B7	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SERP1	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SLC35E4	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
SEC22B	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
ORMDL3	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (141): ECI2 (Affinity Capture-MS), TSPAN10 (Affinity Capture-MS), HSD17B13 (Reconstituted Complex), TSPAN10 (Affinity Capture-MS), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid), HSD17B13 (Two-hybrid)

ESM2 similar proteins: A0A078IS66, A0A078ISJ6, A0A0B6VQ48, A0A1V0QS34, A0A2H3CZZ2, A0AAW1NHX6, A2RVM0, A4UHT7, A5PJJ7, B2X050, B8A5W4, G9N4A9, O17795, O74959, P16232, P40579, P40580, P59837, P70385, Q05A13, Q071N0, Q08651, Q17703, Q17704, Q4JK73, Q5F389, Q5NVG2, Q5R9W5, Q5ZJG8, Q6AYS8, Q6P3L6, Q6QA32, Q6RVV4, Q7SHI2, Q7TQA3, Q7Z5P4, Q8BYK4, Q8CEE7, Q8N3Y7, Q8NBN7

Diamond homologs: A1L1W4, A4IFM3, A5JYX5, A5PJJ7, N4WE43, N4WW42, O74628, O75911, O77769, O88876, P0AEK2, P0AEK3, P14061, P26620, P28485, P28486, P41177, P48814, P48815, P50203, P66778, P91615, P9WGP8, P9WGP9, P9WGS2, P9WGS3, Q02207, Q05A13, Q1WNP0, Q4JK73, Q5M875, Q5NVG2, Q5XGF7, Q68ER2, Q6AYS8, Q6DCT3, Q6NRV4, Q6NUE2, Q70UN9, Q70UP5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

57 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	2
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

862 predictions. Top by Δscore:

Variant	Effect	Δscore
4:87310237:ACTT:A	donor_loss	1.0000
4:87310238:CT:C	donor_loss	1.0000
4:87310239:TTAC:T	donor_loss	1.0000
4:87310240:TACT:T	donor_loss	1.0000
4:87310241:A:AC	donor_gain	1.0000
4:87310241:AC:A	donor_loss	1.0000
4:87310242:C:CA	donor_gain	1.0000
4:87310242:C:T	donor_loss	1.0000
4:87310242:CT:C	donor_gain	1.0000
4:87310242:CTT:C	donor_gain	1.0000
4:87310242:CTTCT:C	donor_gain	1.0000
4:87310355:ATAAT:A	acceptor_gain	1.0000
4:87310356:TAAT:T	acceptor_gain	1.0000
4:87310357:AATCT:A	acceptor_loss	1.0000
4:87310358:AT:A	acceptor_gain	1.0000
4:87310359:TC:T	acceptor_loss	1.0000
4:87310360:C:CA	acceptor_loss	1.0000
4:87310360:C:CC	acceptor_gain	1.0000
4:87310361:T:A	acceptor_loss	1.0000
4:87310366:T:TC	acceptor_gain	1.0000
4:87313818:CTTAC:C	donor_loss	1.0000
4:87313820:TACC:T	donor_loss	1.0000
4:87313821:A:C	donor_loss	1.0000
4:87313822:C:G	donor_loss	1.0000
4:87315491:A:AC	donor_gain	1.0000
4:87315492:C:CC	donor_gain	1.0000
4:87315596:TGAT:T	acceptor_gain	1.0000
4:87315599:TCT:T	acceptor_loss	1.0000
4:87315600:C:CC	acceptor_gain	1.0000
4:87315601:T:C	acceptor_gain	1.0000

AlphaMissense

1960 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:87313952:T:A	K189I	0.996
4:87313954:G:C	S188R	0.995
4:87313954:G:T	S188R	0.995
4:87313956:T:G	S188R	0.995
4:87313948:A:C	F190L	0.993
4:87313948:A:T	F190L	0.993
4:87313950:A:G	F190L	0.993
4:87315536:A:G	S172P	0.992
4:87310318:A:G	L246P	0.991
4:87317110:G:C	N144K	0.991
4:87317110:G:T	N144K	0.991
4:87322646:A:G	W66R	0.991
4:87322646:A:T	W66R	0.991
4:87313922:A:G	L199P	0.990
4:87317185:A:C	N119K	0.990
4:87317185:A:T	N119K	0.990
4:87315547:A:T	V168D	0.989
4:87322651:A:T	V64D	0.989
4:87313910:A:G	L203P	0.987
4:87313951:T:A	K189N	0.986
4:87313951:T:G	K189N	0.986
4:87313955:C:A	S188I	0.986
4:87322643:C:G	D67H	0.986
4:87315526:C:T	G175D	0.985
4:87322641:A:C	D67E	0.984
4:87322641:A:T	D67E	0.984
4:87322726:A:T	V39D	0.984
4:87313873:A:C	C215W	0.983
4:87315497:A:G	Y185H	0.983
4:87315539:C:G	A171P	0.983

dbSNP variants (sampled 300 via entrez): RS1000180912 (4:87307163 C>G), RS1000230430 (4:87319912 G>T), RS1000490883 (4:87312474 G>A), RS1000586617 (4:87307673 G>A), RS1001022662 (4:87320975 G>A), RS1001095420 (4:87313735 T>C), RS1001528411 (4:87314177 C>T), RS1001543146 (4:87310188 A>C,T), RS1001556097 (4:87309089 A>G), RS1001590886 (4:87305548 A>C), RS1001722772 (4:87323365 G>C), RS1001961780 (4:87324740 G>A,C), RS1002131546 (4:87315937 G>A,T), RS10022237 (4:87307076 C>G,T), RS1002343844 (4:87311601 G>A,C)

Disease associations

OMIM: gene MIM:612127 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001275_3	Liver enzyme levels (alanine transaminase)	3.000000e-09
GCST001337_13	Platelet count	9.000000e-09
GCST001958_16	Bulimia nervosa	4.000000e-06
GCST005790_92	Rosacea symptom severity	8.000000e-06
GCST010660_16	Triglyceride levels	2.000000e-13
GCST010861_1	Nonalcoholic steatohepatitis	2.000000e-07
GCST010861_2	Nonalcoholic steatohepatitis	3.000000e-07
GCST011586_2	Cirrhosis (multi-trait analysis)	3.000000e-54
GCST011639_2	Cirrhosis (alcohol related)	3.000000e-10
GCST90011898_126	Alanine aminotransferase levels	5.000000e-69
GCST90011899_168	Aspartate aminotransferase levels	2.000000e-57
GCST90013663_33	Alanine aminotransferase levels	2.000000e-54
GCST90013664_10	Aspartate aminotransferase levels	2.000000e-37

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0009180	rosacea severity measurement
EFO:0004530	triglyceride measurement
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5305042 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,374 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL4297613	CILOFEXOR	3	1,374

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — 1.-.-.- Oxidoreductases

Binding affinities (BindingDB)

576 measured of 855 human assays (855 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
US20250340546, Example 12	IC50	0.993 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 26	IC50	1.26 nM	US-20250340546: HSD17B13 INHIBITORS
1-[[2-(2,4-difluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3H-indol-2-one	IC50	1.59 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 25	IC50	1.99 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 14	IC50	3.67 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 22	IC50	4.45 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 4	IC50	4.86 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 20	IC50	5.72 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 21	IC50	7.39 nM	US-20250340546: HSD17B13 INHIBITORS
1-[[2-(2,4-difluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylbenzimidazol-2-one	IC50	12.1 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 19	IC50	12.6 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 24	IC50	15.8 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 29	IC50	24.9 nM	US-20250340546: HSD17B13 INHIBITORS
3-methyl-1-[[2-(2,4,6-trifluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]pyrimidine-2,4-dione	IC50	26.8 nM	US-20250340546: HSD17B13 INHIBITORS
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-(1-methylpyrazol-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	75 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-pyrimidin-5-yl-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	75 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-(1,1-dioxo-1,4-thiazinan-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	75 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(3,5-dichloro-4-hydroxybenzoyl)amino]-2-(2-methylsulfonylphenyl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	75 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-(2-methylsulfonylphenyl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	75 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(3-chloro-5-fluoro-4-hydroxybenzoyl)amino]-2-[2-fluoro-5-(pyrrolidin-1-ylmethyl)phenyl]-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	75 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
US20250340546, Example 23	IC50	76.8 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 16	IC50	150 nM	US-20250340546: HSD17B13 INHIBITORS
US20250340546, Example 17	IC50	272 nM	US-20250340546: HSD17B13 INHIBITORS
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-phenyl-N-(2,2,2-trifluoroethyl)-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(3,5-dichloro-4-hydroxybenzoyl)amino]-2-(1,1-dioxo-1,4-thiazinan-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-morpholin-4-yl-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-(oxan-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(3,5-dichloro-4-hydroxybenzoyl)amino]-2-(oxan-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-(1-methyl-3,6-dihydro-2H-pyridin-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(4,6-dichloro-5-hydroxypyridine-2-carbonyl)amino]-2-(1-methylpiperidin-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
5-[(3,5-dichloro-4-hydroxybenzoyl)amino]-2-(1-methylpiperidin-4-yl)-N-[[2-(trifluoromethyl)phenyl]methyl]-1,3-thiazole-4-carboxamide	KI	300 nM	US-20250100993: 2-SUBSTITUTED THIAZOLE HSD17B13 INHIBITORS AND USES THEREOF
3-fluoro-4-[[2-(4-fluorophenyl)-1,3-thiazol-5-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3,5-difluoro-4-[[2-(4-fluorophenyl)-1,3-thiazol-5-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
2,3-difluoro-4-[[2-(4-fluorophenyl)-1,3-thiazol-5-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
2-fluoro-4-[[2-(4-fluorophenyl)-1,3-thiazol-5-yl]sulfonylamino]-3-methoxybenzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-methoxy-4-[(2-phenyl-1,3-oxazol-5-yl)sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
6-[[2-(4-fluorophenyl)-1,3-thiazol-5-yl]sulfonylamino]-5-methoxypyridine-3-carboxylic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
4-[[2-(4-fluorophenyl)-1,3-thiazol-5-yl]sulfonylamino]furan-2-carboxylic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
4-[[2-(3-fluorophenyl)-1,3-thiazol-4-yl]sulfonylamino]-3-methoxybenzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
4-[[2-(2-fluorophenyl)-1,3-thiazol-4-yl]sulfonylamino]-3-methoxybenzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-methoxy-4-[[2-(4-methylphenyl)-1,3-thiazol-4-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-methoxy-4-[[2-[4-(trifluoromethyl)phenyl]-1,3-thiazol-4-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-methoxy-4-[[2-(4-methoxyphenyl)-1,3-thiazol-4-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-hydroxy-4-[[2-(4-hydroxyphenyl)-1,3-thiazol-4-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
4-[[2-(4-hydroxyphenyl)-1,3-thiazol-4-yl]sulfonylamino]-3-methoxybenzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-methoxy-4-[(4-phenylphenyl)sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
4-[[2-(3-hydroxyphenyl)-1,3-thiazol-4-yl]sulfonylamino]-3-methoxybenzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-methoxy-4-[[2-(2-phenylethynyl)-1,3-thiazol-4-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
3-methoxy-4-[[2-(2-methylnaphthalen-1-yl)-1,3-thiazol-4-yl]sulfonylamino]benzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof
4-[[2-(2-fluoronaphthalen-1-yl)-1,3-thiazol-4-yl]sulfonylamino]-3-methoxybenzoic acid	IC50	300 nM	US-12384753: 17-beta-hydroxysteroid dehydrogenase type 13 inhibitors and methods of use thereof

ChEMBL bioactivities

309 potent at pChembl≥5 of 309 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.22	Ki	0.6	nM	CHEMBL5411903
9.15	Ki	0.7	nM	CHEMBL5307400
9.10	Ki	0.8	nM	CHEMBL5417980
9.00	IC50	1	nM	CHEMBL5417980
9.00	IC50	1	nM	CHEMBL5411903
9.00	Ki	1	nM	CHEMBL5405782
9.00	IC50	1	nM	CHEMBL5307400
8.70	Ki	2	nM	CHEMBL5418605
8.60	IC50	2.5	nM	CHEMBL6191979
8.59	Ki	2.6	nM	CHEMBL5429503
8.57	IC50	2.7	nM	CHEMBL5574341
8.55	IC50	2.8	nM	CHEMBL5569001
8.52	IC50	3	nM	CHEMBL5411903
8.52	Ki	3	nM	CHEMBL5423975
8.49	IC50	3.2	nM	CHEMBL5563169
8.47	IC50	3.4	nM	CHEMBL5590976
8.44	Ki	3.6	nM	CHEMBL5394877
8.42	IC50	3.8	nM	CHEMBL5579692
8.40	IC50	4	nM	CHEMBL5405439
8.40	IC50	4	nM	CHEMBL5429503
8.40	IC50	4	nM	CHEMBL5423975
8.40	Ki	4	nM	CHEMBL5414092
8.40	Ki	4	nM	CHEMBL5405439
8.38	IC50	4.2	nM	CHEMBL5307400
8.38	IC50	4.2	nM	CHEMBL6188443
8.30	IC50	5	nM	CHEMBL5414092
8.30	IC50	5	nM	CHEMBL5394877
8.30	IC50	5	nM	CHEMBL5417980
8.22	IC50	6	nM	CHEMBL6191533
8.21	IC50	6.1	nM	CHEMBL6191439
8.13	IC50	7.4	nM	CHEMBL6191159
8.05	IC50	9	nM	CHEMBL5394361
8.00	IC50	9.9	nM	CHEMBL6190053
7.96	IC50	11	nM	CHEMBL5307400
7.96	IC50	11	nM	CHEMBL5394361
7.90	IC50	12.5	nM	CHEMBL6189447
7.89	IC50	13	nM	CHEMBL5405782
7.89	IC50	13	nM	CHEMBL5307400
7.89	IC50	12.9	nM	CHEMBL6190986
7.86	IC50	13.8	nM	CHEMBL6189657
7.82	IC50	15	nM	CHEMBL5418605
7.78	IC50	16.5	nM	CHEMBL6192034
7.75	IC50	18	nM	CHEMBL5418452
7.72	IC50	19	nM	CHEMBL5424281
7.71	Kd	19.3	nM	CHEMBL6191979
7.70	IC50	20	nM	CHEMBL5429503
7.66	IC50	21.8	nM	CHEMBL6192186
7.64	IC50	23	nM	CHEMBL5423890
7.62	IC50	24	nM	CHEMBL5394877
7.59	Kd	25.8	nM	CHEMBL5307400

PubChem BioAssay actives

83 with measured affinity, of 103 total; 39 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
1-[[5-(2,4-difluoro-3-hydroxyphenyl)-1,3,4-thiadiazol-2-yl]methyl]-3-ethylquinazoline-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0006	uM
1-[[5-(2,4-difluoro-3-hydroxyphenyl)-1,3,4-thiadiazol-2-yl]methyl]-3-ethyl-5-methylpyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0007	uM
1-[[5-(2,4-difluoro-3-hydroxyphenyl)-1,3,4-thiadiazol-2-yl]methyl]-3-ethyl-6,7-dihydro-5H-cyclopenta[d]pyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0008	uM
1-[[2-(2,4-difluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-ethyl-5-methylpyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0010	uM
1-[[5-(2,4-difluoro-3-hydroxyphenyl)-1,3,4-thiadiazol-2-yl]methyl]-3-ethylpyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0020	uM
1-[[2-(2,4-difluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-ethylpyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0026	uM
N-[[4-[6-[1-(difluoromethyl)pyrazol-4-yl]indazol-2-yl]cyclohexyl]methyl]-3,5-difluoro-4-hydroxybenzamide	2094977: Inhibition of human HSD17B13 using estradiol and NAD as substrate incubated for 2 hrs by Envision plate reader analysis	ic50	0.0026	uM
N-[[4-[6-(1-tert-butylpyrazol-4-yl)indazol-2-yl]cyclohexyl]methyl]-3,5-difluoro-4-hydroxybenzamide	2094977: Inhibition of human HSD17B13 using estradiol and NAD as substrate incubated for 2 hrs by Envision plate reader analysis	ic50	0.0027	uM
N-[[4-[6-(1-cyclopropylpyrazol-4-yl)indazol-2-yl]cyclohexyl]methyl]-3,5-difluoro-4-hydroxybenzamide	2094977: Inhibition of human HSD17B13 using estradiol and NAD as substrate incubated for 2 hrs by Envision plate reader analysis	ic50	0.0028	uM
3-(cyclopropylmethyl)-1-[[2-(2,4-difluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]pyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0030	uM
N-[[4-[6-(5,6-dihydro-4H-pyrrolo[2,1-e]pyrazol-3-yl)indazol-2-yl]cyclohexyl]methyl]-3,5-difluoro-4-hydroxybenzamide	2094977: Inhibition of human HSD17B13 using estradiol and NAD as substrate incubated for 2 hrs by Envision plate reader analysis	ic50	0.0032	uM
3,5-difluoro-4-hydroxy-N-[[4-[6-[1-methyl-3-(trifluoromethyl)pyrazol-4-yl]indazol-2-yl]cyclohexyl]methyl]benzamide	2094977: Inhibition of human HSD17B13 using estradiol and NAD as substrate incubated for 2 hrs by Envision plate reader analysis	ic50	0.0034	uM
1-[[5-(2,4-difluoro-3-hydroxyphenyl)-1,3,4-thiadiazol-2-yl]methyl]-3-ethyl-6-methylpyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0036	uM
N-[[4-[6-(2-cyanophenyl)indazol-2-yl]cyclohexyl]methyl]-3,5-difluoro-4-hydroxybenzamide	2094977: Inhibition of human HSD17B13 using estradiol and NAD as substrate incubated for 2 hrs by Envision plate reader analysis	ic50	0.0038	uM
1-[[5-(2,4-difluoro-3-hydroxyphenyl)-1,3,4-thiadiazol-2-yl]methyl]-3-methylpyrimidine-2,4-dione	2027549: Tight binding inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 assessed as inhibition constant by morrison equation	ki	0.0040	uM
1-[[2-(2,4-difluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-(2,2,2-trifluoroethyl)pyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0040	uM
1-[[2-(2-chloro-5-fluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0090	uM
1-[[2-(2-chloro-3-hydroxy-5-methylphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0180	uM
1-[[2-(2,4-difluoro-5-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0190	uM
1-[[2-(2-fluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0230	uM
1-[[2-(2-chloro-4-fluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027528: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 expressed in HEK293 cells using estradiol as substrate preincubated for 30 mins followed by substrate addition and measured after 3 hrs by rapidfire MS/MS analysis	ic50	0.0300	uM
1-[[2-(2-chloro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0480	uM
1-[[2-(3-fluoro-5-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0970	uM
1-[[2-(4-fluoro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.0970	uM
1-[[2-(4-chloro-3-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.1170	uM
1-[[2-[3-hydroxy-5-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.1180	uM
1-[[5-(3-hydroxyphenyl)-1,3,4-thiadiazol-2-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.1760	uM
1-[[2-(2-fluoro-5-hydroxyphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.3970	uM
1-[[5-(3-hydroxyphenyl)-1,2-oxazol-3-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.5100	uM
1-[[3-(3-hydroxyphenyl)-1,2-oxazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.5620	uM
1-[[2-(5-hydroxy-3-pyridinyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.6440	uM
1-[[5-(3-hydroxyphenyl)-1,3-thiazol-2-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	0.6520	uM
1-[[1-(3-hydroxyphenyl)triazol-4-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	1.3400	uM
3-[3-(3-hydroxyphenyl)prop-2-ynyl]-1,7-dimethylpurine-2,6-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	1.3800	uM
1-[[2-(3-hydroxyphenyl)pyrimidin-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027528: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 expressed in HEK293 cells using estradiol as substrate preincubated for 30 mins followed by substrate addition and measured after 3 hrs by rapidfire MS/MS analysis	ic50	2.2200	uM
1-[3-(3-hydroxyphenyl)prop-2-ynyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	2.6300	uM
2-hydroxy-4-[5-[(3-methyl-2,4-dioxopyrimidin-1-yl)methyl]-1,3-thiazol-2-yl]benzonitrile	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	2.8700	uM
1-[[2-[3-hydroxy-4-(trifluoromethyl)phenyl]-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	6.1800	uM
1-[[2-(3-hydroxy-2-methylphenyl)-1,3-thiazol-5-yl]methyl]-3-methylpyrimidine-2,4-dione	2027525: Inhibition of recombinant human full-length C-terminal His-tagged HSD17B13 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	ic50	7.8800	uM

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation	2
GSK-J4	increases expression	1
triphenyl phosphate	decreases reaction, increases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	decreases expression	1
tris(chloroethyl)phosphate	decreases reaction, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
fipronil	decreases expression, affects cotreatment	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
Troglitazone	decreases expression	1
DEET	increases expression, affects cotreatment, decreases expression	1
NAD	affects binding, increases activity	1
Tetrachlorodibenzodioxin	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

22 unique, capped per target: 20 binding, 2 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5303918	Functional	Enzymatic assay (hHSD17B13)	Data for DCP probe BI-3231
CHEMBL5303920	Binding	nanoDSF (HSD17B13)	Data for DCP probe BI-3231

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_F1QV	HyCyte Huh-7 KO-hHSD17B13	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.