HSD17B11

Summary

HSD17B11 (hydroxysteroid 17-beta dehydrogenase 11, HGNC:22960) is a protein-coding gene on chromosome 4q22.1, encoding Estradiol 17-beta-dehydrogenase 11 (Q8NBQ5). Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis.

Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).

Source: NCBI Gene 51170 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 40 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_016245

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22960
Approved symbol	HSD17B11
Name	hydroxysteroid 17-beta dehydrogenase 11
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2
Ensembl gene	ENSG00000198189
Ensembl biotype	protein_coding
OMIM	612831
Entrez	51170

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000358290, ENST00000502576, ENST00000507286, ENST00000507518, ENST00000508413, ENST00000512344, ENST00000513854, ENST00000854933, ENST00000854934, ENST00000854935, ENST00000854936, ENST00000854937, ENST00000926988, ENST00000970124

RefSeq mRNA: 1 — MANE Select: NM_016245 NM_016245

CCDS: CCDS3619

Canonical transcript exons

ENST00000358290 — 7 exons

Exon	Start	End
ENSE00001405112	87390861	87391188
ENSE00001422137	87374699	87374830
ENSE00001428384	87336515	87337366
ENSE00003512069	87372709	87372815
ENSE00003540838	87340490	87340606
ENSE00003603691	87357279	87357416
ENSE00003650772	87382255	87382362

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 99.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.4262 / max 1043.9298, expressed in 1767 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
53014	29.1478	1766
53013	0.2785	104

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	99.25	gold quality
colonic mucosa	UBERON:0000317	98.92	gold quality
duodenum	UBERON:0002114	98.87	gold quality
mucosa of sigmoid colon	UBERON:0004993	98.85	gold quality
rectum	UBERON:0001052	98.78	gold quality
ileal mucosa	UBERON:0000331	98.75	gold quality
monocyte	CL:0000576	98.66	gold quality
adrenal tissue	UBERON:0018303	98.61	gold quality
mononuclear cell	CL:0000842	98.59	gold quality
gall bladder	UBERON:0002110	98.59	gold quality
leukocyte	CL:0000738	98.55	gold quality
mucosa of transverse colon	UBERON:0004991	98.04	gold quality
blood	UBERON:0000178	97.99	gold quality
visceral pleura	UBERON:0002401	97.84	gold quality
germinal epithelium of ovary	UBERON:0001304	97.65	gold quality
mucosa of stomach	UBERON:0001199	97.47	gold quality
transverse colon	UBERON:0001157	97.41	gold quality
right lung	UBERON:0002167	97.40	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.34	gold quality
bone marrow	UBERON:0002371	97.29	gold quality
trabecular bone tissue	UBERON:0002483	97.15	gold quality
liver	UBERON:0002107	97.09	gold quality
pleura	UBERON:0000977	97.05	gold quality
right lobe of liver	UBERON:0001114	97.03	gold quality
lower lobe of lung	UBERON:0008949	96.98	gold quality
small intestine	UBERON:0002108	96.92	gold quality
granulocyte	CL:0000094	96.81	gold quality
pericardium	UBERON:0002407	96.76	gold quality
parietal pleura	UBERON:0002400	96.75	gold quality
intestine	UBERON:0000160	96.66	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	125.26
E-HCAD-1	yes	13.71
E-MTAB-6701	yes	10.39
E-GEOD-125970	yes	6.56
E-HCAD-6	no	36.65
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CEBPA, SP1

miRNA regulators (miRDB)

75 targeting HSD17B11, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-519A-3P	99.67	71.67	1868

Literature-anchored findings (GeneRIF, showing 6)

• Role for 17-beta-HSDXI in androgen metabolism during steroidogenesis. (PMID:12697717)
• Mutation analyses suggest that the PAT-like motif in 17betaHSD11 will not be functionally similar to the canonical PAT motif. (PMID:18804447)
• Increased Pan1b is associated with prostate cancer of seminal vesicle invasion. (PMID:19469652)
• hydroxysteroid (17-beta) dehydrogenase 11 transcription in prostate cancer cells is regulated by Sp1 transcription factor and C-EBP alpha (PMID:21549806)
• knowledge of its in vitro activity together with a newly described expression pattern at the protein level in tissues involved in steroidogenesis and detoxification could suggest a potential role of DHRS8 in vivo (PMID:26472732)
• Ferroptosis-related genes DUOX1 and HSD17B11 affect tumor microenvironment and predict overall survival of lung adenocarcinoma patients. (PMID:39259123)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Hsd17b11	ENSMUSG00000029311
rattus_norvegicus	Hsd17b11	ENSRNOG00000002210

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), HSD17B13 (ENSG00000170509), SDR16C5 (ENSG00000170786), HSD11B2 (ENSG00000176387), WWOX (ENSG00000186153), HSD17B8 (ENSG00000204228)

Protein

Protein identifiers

Estradiol 17-beta-dehydrogenase 11 — Q8NBQ5 (reviewed: Q8NBQ5)

Alternative names: 17-beta-hydroxysteroid dehydrogenase 11, 17-beta-hydroxysteroid dehydrogenase XI, Cutaneous T-cell lymphoma-associated antigen HD-CL-03, Dehydrogenase/reductase SDR family member 8, Retinal short-chain dehydrogenase/reductase 2, Short chain dehydrogenase/reductase family 16C member 2

All UniProt accessions (2): D6RCD0, Q8NBQ5

UniProt curated annotations — full annotation on UniProt →

Function. Can convert androstan-3-alpha,17-beta-diol (3-alpha-diol) to androsterone in vitro, suggesting that it may participate in androgen metabolism during steroidogenesis. May act by metabolizing compounds that stimulate steroid synthesis and/or by generating metabolites that inhibit it. Has no activity toward DHEA (dehydroepiandrosterone), or A-dione (4-androste-3,17-dione), and only a slight activity toward testosterone to A-dione. Tumor-associated antigen in cutaneous T-cell lymphoma.

Subcellular location. Endoplasmic reticulum. Lipid droplet.

Tissue specificity. Present at high level in steroidogenic cells such as syncytiotrophoblasts, sebaceous gland, Leydig cells, and granulosa cells of the dominant follicle and corpus luteum. In lung, it is detected in the ciliated epithelium and in acini of adult trachea, in bronchioles, but not in alveoli. In the eye, it is detected in the nonpigmented epithelium of the ciliary body and, at lower level, in the inner nuclear layer of the retina (at protein level). Widely expressed. Highly expressed in retina, pancreas, kidney, liver, lung, adrenal, small intestine, ovary and heart.

Similarity. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.

RefSeq proteins (1): NP_057329* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF00106

Catalyzed reactions (Rhea), 2 shown:

• 17beta-estradiol + NAD(+) = estrone + NADH + H(+) (RHEA:24612)
• 17beta-estradiol + NADP(+) = estrone + NADPH + H(+) (RHEA:24616)

UniProt features (33 total): helix 11, sequence conflict 9, strand 7, binding site 2, signal peptide 1, chain 1, turn 1, active site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1YB1	X-RAY DIFFRACTION	1.95

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NBQ5-F1	93.52	0.75

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 (2): 40–64; 172

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-193144	Estrogen biosynthesis

MSigDB gene sets: 297 (showing top): DITTMER_PTHLH_TARGETS_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, BOYLAN_MULTIPLE_MYELOMA_D_DN, LA_MEN1_TARGETS, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, GNF2_MCL1, MARTINEZ_RB1_TARGETS_DN, GNF2_ICAM3, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GNF2_S100A4, MODULE_301, GOBP_HORMONE_BIOSYNTHETIC_PROCESS, GOBP_STEROID_BIOSYNTHETIC_PROCESS, TSENG_IRS1_TARGETS_DN

GO Biological Process (4): estrogen biosynthetic process (GO:0006703), androgen catabolic process (GO:0006710), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694)

GO Molecular Function (5): estradiol 17-beta-dehydrogenase [NAD(P)+] activity (GO:0004303), 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): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), lipid droplet (GO:0005811), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of steroid hormones	1

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

3225 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSD17B11	NR5A1	Q13285	608
HSD17B11	ADAMTSL3	P82987	543
HSD17B11	TMT1B	Q6UX53	477
HSD17B11	HSD17B4	P51659	459
HSD17B11	TMT1A	Q9H8H3	445
HSD17B11	TMC6	Q7Z403	438
HSD17B11	KBTBD8	Q8NFY9	425
HSD17B11	HSD3B1	P14060	417
HSD17B11	NSDHL	Q15738	417
HSD17B11	GPAT4	Q86UL3	417
HSD17B11	HSD17B7	P56937	403
HSD17B11	HSD17B2	P37059	398
HSD17B11	APOA4	P06727	396
HSD17B11	BCL2L13	Q9BXK5	390
HSD17B11	AUP1	Q9Y679	389

IntAct

248 interactions, top by confidence:

A	B	Type	Score
TMEM60	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC24	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
ERG28	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
MS4A1	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
HSD17B11	TMEM60	psi-mi:“MI:0915”(physical association)	0.560
SFXN3	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
HSD17B11	GIMAP1	psi-mi:“MI:0915”(physical association)	0.560
SLC30A8	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
SEC22B	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
STX7	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
HSD17B11	OTULINL	psi-mi:“MI:0915”(physical association)	0.560
TMEM42	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
CSGALNACT2	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
STX5	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
DHRSX	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
LRCH4	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
PLP2	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
HSD17B11	FAM241B	psi-mi:“MI:0915”(physical association)	0.560
HSD17B11	SLC67A1	psi-mi:“MI:0915”(physical association)	0.560
PRAF2	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
TPRG1	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
SERPINE1	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560
TMEM120B	HSD17B11	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (432): HSD17B11 (Affinity Capture-MS), HSD17B11 (Affinity Capture-MS), HSD17B11 (Affinity Capture-MS), HSD17B11 (Affinity Capture-MS), HSD17B11 (Reconstituted Complex), HSD17B11 (Affinity Capture-MS), HSD17B11 (Affinity Capture-MS), HSD17B11 (Affinity Capture-MS), HSD17B11 (Affinity Capture-MS), HSD17B11 (Affinity Capture-MS), HSD17B11 (Proximity Label-MS), HSD17B11 (Two-hybrid), HSD17B11 (Two-hybrid), HSD17B11 (Two-hybrid), HSD17B11 (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: A0A0B4GT47, A0A0B4GU97, A0A0B4HVU2, A0A140FAN3, A0A8I6GJ95, A0AAT9JA24, A7LB59, A7LB60, D3U1D9, E9EHG1, E9Q3D4, F1QWW8, M2WJF1, M2ZIX7, O31680, O32291, P0A0H9, P0A0I0, P0A2C9, P0A2D0, P0AEK2, P0AEK3, P0DKC5, P0DKC6, P0DKC7, P0DX40, P16232, P25145, P28643, P37959, P40397, P43713, P50172, P50941, P51975, P54554, P69935, P69936, P70385, P72220

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
HSD17B11	“up-regulates quantity”	androst-5-ene-3beta,17beta-diol	“chemical modification”
HSD17B11	“up-regulates quantity”	estrone	“chemical modification”
HSD17B11	“up-regulates quantity”	17beta-estradiol	“chemical modification”
HSD17B11	“up-regulates quantity”	testosterone	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
endoplasmic reticulum to Golgi vesicle-mediated transport	7	13.6×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1129 predictions. Top by Δscore:

Variant	Effect	Δscore
4:87372832:T:TC	acceptor_gain	1.0000
4:87374691:ATACT:A	donor_loss	1.0000
4:87374692:TACT:T	donor_loss	1.0000
4:87374693:ACTC:A	donor_loss	1.0000
4:87374695:TCACC:T	donor_loss	1.0000
4:87374696:C:CC	donor_loss	1.0000
4:87374697:AC:A	donor_gain	1.0000
4:87374697:ACCC:A	donor_loss	1.0000
4:87374698:C:T	donor_loss	1.0000
4:87374698:CC:C	donor_gain	1.0000
4:87382257:T:A	donor_gain	1.0000
4:87382358:CCATG:C	acceptor_gain	1.0000
4:87382359:CATG:C	acceptor_gain	1.0000
4:87382359:CATGC:C	acceptor_gain	1.0000
4:87382361:TG:T	acceptor_gain	1.0000
4:87382362:GCTA:G	acceptor_loss	1.0000
4:87382363:C:CC	acceptor_gain	1.0000
4:87382363:C:CG	acceptor_loss	1.0000
4:87357272:AACTT:A	donor_loss	0.9900
4:87357273:ACTTA:A	donor_loss	0.9900
4:87357274:CTT:C	donor_loss	0.9900
4:87357275:TTACC:T	donor_loss	0.9900
4:87357276:TACCT:T	donor_loss	0.9900
4:87357277:A:AG	donor_loss	0.9900
4:87357278:C:CA	donor_loss	0.9900
4:87357417:C:CC	acceptor_gain	0.9900
4:87371585:G:C	acceptor_gain	0.9900
4:87372829:T:C	acceptor_gain	0.9900
4:87372829:T:TC	acceptor_gain	0.9900
4:87372832:T:C	acceptor_gain	0.9900

AlphaMissense

1952 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:87357410:G:C	S188R	0.995
4:87357410:G:T	S188R	0.995
4:87357412:T:G	S188R	0.995
4:87390875:A:G	W66R	0.993
4:87390875:A:T	W66R	0.993
4:87372763:A:T	V168D	0.992
4:87357411:C:A	S188I	0.991
4:87374717:A:C	N144K	0.991
4:87374717:A:T	N144K	0.991
4:87374792:A:C	N119K	0.991
4:87374792:A:T	N119K	0.991
4:87390914:C:G	A53P	0.991
4:87357402:G:T	A191D	0.990
4:87390913:G:T	A53D	0.990
4:87390952:A:G	L40P	0.989
4:87357404:A:C	F190L	0.988
4:87357404:A:T	F190L	0.988
4:87357406:A:G	F190L	0.988
4:87372752:A:G	S172P	0.988
4:87390880:A:T	V64D	0.988
4:87340565:A:G	L246P	0.986
4:87390926:C:A	G49W	0.985
4:87372713:A:G	Y185H	0.984
4:87390872:C:G	D67H	0.984
4:87372772:C:T	G165D	0.983
4:87357342:A:T	V211D	0.982
4:87357407:C:A	K189N	0.982
4:87357407:C:G	K189N	0.982
4:87357408:T:A	K189M	0.982
4:87390877:A:T	L65H	0.981

dbSNP variants (sampled 300 via entrez): RS10000196 (4:87389371 C>A,G,T), RS1000135061 (4:87359856 T>C), RS1000166398 (4:87387476 T>C), RS10002620 (4:87368100 A>G), RS1000293844 (4:87386498 C>T), RS1000332631 (4:87390779 G>T), RS10003964 (4:87380254 C>A,T), RS1000401440 (4:87336093 T>C), RS10004027 (4:87371232 T>C), RS1000418885 (4:87379617 T>C), RS1000421931 (4:87365540 A>G), RS1000616748 (4:87355534 A>C), RS1000630369 (4:87391770 G>T), RS1000707430 (4:87337966 C>T), RS1000771901 (4:87386129 G>A)

Disease associations

OMIM: gene MIM:612831 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001958_16	Bulimia nervosa	4.000000e-06
GCST005036_7	Lean body mass	6.000000e-09
GCST005037_5	Appendicular lean mass	1.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004995	lean body mass
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5305043 (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: 1,538 (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
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
6.21	IC50	620	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 8 total; 1 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178728: Inhibition of HSD17B11 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.6200	uM

CTD chemical–gene interactions

54 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, decreases expression	3
Acetaminophen	increases expression, decreases expression	3
Air Pollutants	decreases expression, affects expression, increases abundance	3
Estradiol	decreases expression, affects cotreatment, increases expression	3
Cyclosporine	decreases expression	3
Hydrogen Peroxide	affects expression	2
Progesterone	increases expression	2
Valproic Acid	increases expression	2
GSK-J4	increases expression	1
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases methylation	1
nonanal	increases methylation	1
n-hexanal	increases methylation	1
arsenite	affects binding, increases reaction	1
butyraldehyde	increases methylation	1
manganese chloride	increases expression, increases abundance	1
caprylic aldehyde	increases methylation	1
beta-methylcholine	affects expression	1
pentanal	increases methylation	1
heptanal	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
fipronil	affects cotreatment, increases expression	1
azoxystrobin	increases expression	1
deguelin	increases expression	1
K 7174	increases expression	1
abrine	decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	decreases expression	1

ChEMBL screening assays

10 unique, capped per target: 9 binding, 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5303922	Functional	Enzymatic assay (hHSD17B11)	Data for DCP probe BI-3231
CHEMBL5381644	Binding	Inhibition of recombinant human full-length C-terminal His-tagged HSD17B11 using estradiol and NAD as substrate preincubated for 10 mins followed by substrate addition and measured after 40 mins by MALDI-TOF-MS analysis	Discovery of a Novel Potent and Selective HSD17B13 Inhibitor, BI-3231, a Well-Characterized Chemical Probe Available for Open Science. — J Med Chem

Clinical trials (associated diseases)

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