UGT2B17

gene
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Summary

UGT2B17 (UDP glucuronosyltransferase family 2 member B17, HGNC:12547) is a protein-coding gene on chromosome 4q13.2, encoding UDP-glucuronosyltransferase 2B17 (O75795). UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite’s water solubility, thereby facilitating excretion into either the urine or bile.

This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.

Source: NCBI Gene 7367 — RefSeq curated summary.

At a glance

  • GWAS associations: 9
  • Clinical variants (ClinVar): 96 total
  • Druggable target: yes
  • MANE Select transcript: NM_001077

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:12547
Approved symbolUGT2B17
NameUDP glucuronosyltransferase family 2 member B17
Location4q13.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000197888
Ensembl biotypeprotein_coding
OMIM601903
Entrez7367

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000317746, ENST00000684088, ENST00000893234, ENST00000950879

RefSeq mRNA: 1 — MANE Select: NM_001077 NM_001077

CCDS: CCDS3523

Canonical transcript exons

ENST00000317746 — 7 exons

ExonStartEnd
ENSE000013649576853717368537904
ENSE000014209356856776168568548
ENSE000015978356855067768550896
ENSE000016186416855182468551911
ENSE000016708966856557268565720
ENSE000017117536856053768560668
ENSE000039160646857595168576322

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 99.03.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0152 / max 5.9502, expressed in 11 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
523380.00778
2031860.00753

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
mucosa of transverse colonUBERON:000499199.03gold quality
ileal mucosaUBERON:000033198.92gold quality
mucosa of sigmoid colonUBERON:000499395.33gold quality
duodenumUBERON:000211492.02gold quality
vermiform appendixUBERON:000115491.35gold quality
colonic mucosaUBERON:000031789.80gold quality
caecumUBERON:000115385.62gold quality
colonic epitheliumUBERON:000039785.15gold quality
jejunal mucosaUBERON:000039984.39gold quality
small intestine Peyer’s patchUBERON:000345484.34gold quality
small intestineUBERON:000210883.55gold quality
transverse colonUBERON:000115782.56gold quality
rectumUBERON:000105278.58gold quality
right lobe of liverUBERON:000111478.32gold quality
intestineUBERON:000016075.94gold quality
liverUBERON:000210774.87gold quality
large intestineUBERON:000005973.50gold quality
colonUBERON:000115572.78gold quality
epithelial cell of pancreasCL:000008367.24silver quality
jejunumUBERON:000211564.68gold quality
sigmoid colonUBERON:000115958.99gold quality
bone marrow cellCL:000209258.54silver quality
gall bladderUBERON:000211056.97gold quality
deciduaUBERON:000245056.55gold quality
hair follicleUBERON:000207353.04gold quality
endometrium epitheliumUBERON:000481152.62gold quality
cerebellar vermisUBERON:000472051.12gold quality
Brodmann (1909) area 10UBERON:001354150.99gold quality
lower lobe of lungUBERON:000894950.75silver quality
muscle layer of sigmoid colonUBERON:003580550.72gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-6678yes10.88
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CDX2, FOXA1, FOXA2, HNF1A, NCOR1, NCOR2, PBX2, PKNOX1, PRKDC

miRNA regulators (miRDB)

48 targeting UGT2B17, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-126-5P100.0072.713180
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-656-3P100.0072.152788
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-548AW99.9972.573559
HSA-MIR-10401-5P99.9965.79948
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-335-3P99.9373.364958
HSA-MIR-450B-5P99.9271.483175
HSA-MIR-367199.9073.043897
HSA-MIR-6783-3P99.8967.922059
HSA-MIR-1343-3P99.8966.781815
HSA-MIR-182-5P99.8774.032589
HSA-MIR-5010-3P99.8370.602357
HSA-MIR-94499.8270.853042
HSA-MIR-494-3P99.7071.452795
HSA-MIR-33A-3P99.7070.273362
HSA-MIR-548AV-5P99.6070.842107
HSA-MIR-548K99.6070.842107
HSA-MIR-205399.5769.151635
HSA-MIR-5004-3P99.5468.271371
HSA-MIR-409-3P99.5066.331192
HSA-MIR-805499.4870.812084
HSA-MIR-56999.4266.321009
HSA-MIR-513A-3P99.3970.633620
HSA-MIR-513C-3P99.3970.633620
HSA-MIR-4786-3P99.3668.351390
HSA-MIR-612899.3367.831581
HSA-MIR-329-5P99.2768.111597
HSA-MIR-3606-3P99.1169.843254

Literature-anchored findings (GeneRIF, showing 40)

  • In human prostate, UGT2B15 and UGT2B17 genes have complementary roles and are expressed in cells where their specific substrates are synthesized. (PMID:15666817)
  • UGT2B17 deletion polymorphism is associated with a reduced rate of NNAL detoxification in vivo and may increase individual susceptibility to tobacco-related cancers. (PMID:16220109)
  • The UGT2B17 polymorphism is strongly associated with the bimodal distribution of testosterone excretion and also with the large difference in testosterone excretion between Koreans and Swedes. (PMID:16332934)
  • Deletion polymorphism of UDP-glucuronosyltransferase 2B17 is associated with prostate cancer (PMID:16896035)
  • The UGT2B17 deletion polymorphism is associated with prostate cancer risk. (PMID:17387331)
  • association of the UGT2B17 deletion with increased lung adenocarcinoma in women is consistent with its association with decreased 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol glucuronidation rates in women (PMID:17416778)
  • results suggest that the HSD3B1 N367T and UGT2B17 null polymorphisms may modify the risk of prostate cancer, particularly among men with a family history of the disease (PMID:17826523)
  • UGT2B15 and -B17 are critical enzymes for the local inactivation of androgens and that glucuronidation is a major determinant of androgen action in prostate cells (PMID:17848572)
  • These findings show that the UGT2B17 deletion polymorphism is not associated with prostate cancer risk in Caucasians. (PMID:17935910)
  • Androsterone reduces the glucuronidation of androgens catalysed by UGT2B15 and UGT2B17 in a prostate tumor cell line. (PMID:17988216)
  • The UGT2B17 deletion polymorphism does not play a major role in prostate cancer susceptibility as previously indicated. (PMID:18247404)
  • Vitamin D receptor activator calcitriol as a negative regulator of the UGT2B15- and UGT2B17-dependent inactivation of androgens in prostate cancer LNCaP cells. (PMID:18281521)
  • UGT2B17 ia a primary androgen-regulated genes and androgen receptor is required for basal expression and androgen-regulated expression. (PMID:18302198)
  • Diversity was unusually high, with evidence of balancing selection in Europe. In contrast, diversity was low in East Asia where a single haplotype predominated, suggesting positive selection for the deletion in this part of the world (PMID:18760392)
  • Genome-wide copy-number variation identified a susceptibility gene, UGT2B17, for osteoporosis. (PMID:18992858)
  • In pubertal boys, a common homozygous deletion in the UGT2B17 gene strongly affected urinary excretion pattern of androgen metabolites but did not influence circulating androgen levels. (PMID:19088161)
  • Large testosterone excretion is associated with a deletion polymorphism of the UGT2B17 gene. This polymorphism decreases T/E ratio level. (PMID:19224506)
  • Copy-number variations (CNVs) of the human sex steroid metabolizing genes UGT2B17 (PMID:19572376)
  • the association of deletion polymorphism in the UGT2B17 gene with the occurrence of renal disorders on chronic exposure to anabolic androgenic steroids (PMID:20429943)
  • Overexpression of UGT2B17 is associated with endometrial cancer. (PMID:20554747)
  • UGT2B17 expression in prostate cancer is regulated by a novel polymorphism in forkhead boxA1 binding site. (PMID:20628005)
  • regulation of the UGT2B15 and UGT2B17 genes by FOXA1 may have an important role in the maintenance of androgen homeostasis within prostate cancer cells. (PMID:20736324)
  • data suggest that men have a higher amount of UGT2B17 glucuronidation activity then women (PMID:20810538)
  • Data suggest that UGTs 2B10 and 2B17 play important roles in the glucuronidation of nicotine and suggest that the UGT2B10 codon 67 SNP and the UGT2B17 gene deletion reduce overall glucuronidation rates of nicotine and its major metabolites in smokers. (PMID:20876810)
  • we found no evidence of an effect of UGT2B17 CNV on osteoporosis risk in elderly Caucasian women. (PMID:20878390)
  • Data show that steroidogenic enzymes (AKR1C3, HSD17B2, UGT2B15 and UGT2B17) and stem/progenitor cell markers CK5 and ABCG2 were upregulated in castration resistant prostate cancer. (PMID:21365123)
  • UGT2B17 gene deletion associated with an increase in bone mineral density similar to the effect of hormone replacement in postmenopausal women (PMID:21614655)
  • Data show that 698 CNPs loci overlap with known disease-associated or pharmacogenetic-related genes such as CFHR3, CFHR1, GSTTI and UGT2B17. (PMID:21677662)
  • The UGT2B17 Del polymorphism may significantly contribute to prostate cancer susceptibility in men. (Meta-analysis) (PMID:21919858)
  • The study revealed that UGT2B15 and UGT2B17 are differentially regulated during prostate cancer progression. (PMID:22170718)
  • UGT2B17 and UGT2B10 play key roles in the glucuronidation of 3HC in the human liver and that functional polymorphisms in UGT2B17 and UGT2B10 are associated with significantly reduced glucuronidation activities against 3HC. (PMID:22228205)
  • Genetic variations in the UGT2B17 gene dramatically affect the pharmacokinetics of MK-7246 in healthy subjects. (PMID:22669291)
  • We observed a significant association between UGT2B17 expressing recipients and UGT2B17 deficient donors with the severity of Acute graft versus host disease. (PMID:22726315)
  • The prevalence of the UGT2B17 deletion genotype is extremely high in Japanese subjects. (PMID:22887913)
  • Data from an in vitro supersome/microsome-based assay suggest that the key steroid-metabolizing enzyme UGT2B17 is inhibited by phenolic dietary substances in red wine and therefore may reduce the rate of testosterone glucuronidation in vivo. (PMID:22958586)
  • The present study was aimed to investigate the possible association between 19-base pair (bp) deletion polymorphism of the DHFR gene (rs70991108), null genotype of UGT2B17 as well as the expression level of NGX6 with the risk of breast cancer. (PMID:23053953)
  • observed an exclusive involvement of the 2B17 isoform within the UGT protein family in poor-risk chronic lymphocytic leukemia (PMID:23169782)
  • Report UGT2B17 expression in fetal/adult tissues. (PMID:23223495)
  • The androgen receptor assay may serve as a complement to the urinary testosterone/epitestosterone (T/E) doping test, because this is profoundly influenced by the UGT2B17 deletion polymorphism. (PMID:23294483)
  • Structural variants unique to the malignant cell line inactivated: UGT2B17, a gene that inactivates dihydrotestosterone, a known activator of prostate cancer progression. (PMID:23792589)

Cross-species orthologs

107 orthologs

OrganismSymbolGene ID
danio_reriougt5d1ENSDARG00000002394
danio_reriougt5c2ENSDARG00000006372
danio_reriougt5a1ENSDARG00000016479
danio_reriougt5g1ENSDARG00000032862
danio_reriougt5g2ENSDARG00000043901
danio_reriougt5f1ENSDARG00000054835
danio_reriougt5e1ENSDARG00000058048
danio_reriougt5c3ENSDARG00000061439
danio_reriougt5c1ENSDARG00000061444
danio_reriosi:ch73-334d15.1ENSDARG00000061672
danio_reriougt2a7ENSDARG00000091624
danio_reriougt5b4ENSDARG00000091916
danio_reriougt2b1ENSDARG00000093043
danio_reriougt5a2ENSDARG00000093640
danio_reriougt5b3ENSDARG00000099276
danio_reriougt5b2ENSDARG00000101495
danio_reriougt5b5ENSDARG00000104203
danio_reriougt5b1ENSDARG00000104995
danio_reriougt2b3ENSDARG00000109611
danio_rerioENSDARG00000110614
danio_rerioENSDARG00000113218
danio_reriougt2b5ENSDARG00000116986
drosophila_melanogasterUgt36A1FBGN0015663
drosophila_melanogasterUgt35B1FBGN0026314
drosophila_melanogasterUgt35A1FBGN0026315
drosophila_melanogasterUgt37C1FBGN0026754
drosophila_melanogasterUgt37B1FBGN0026755
drosophila_melanogasterUgt37A1FBGN0026756
drosophila_melanogasterUgt36E1FBGN0027070
drosophila_melanogasterUgt49B1FBGN0027073
drosophila_melanogasterUgt36F1FBGN0027074
drosophila_melanogasterUgt307A1FBGN0031887
drosophila_melanogasterUgt36D1FBGN0032713
drosophila_melanogasterUgt49C1FBGN0034605
drosophila_melanogasterUgt316A1FBGN0036842
drosophila_melanogasterUgt37A2FBGN0038082
drosophila_melanogasterUgt37A3FBGN0038083
drosophila_melanogasterUgt49B2FBGN0038886
drosophila_melanogasterUgt303B3FBGN0039085
drosophila_melanogasterUgt303B1FBGN0039086
drosophila_melanogasterUgt303B2FBGN0039087
drosophila_melanogasterUgt304A1FBGN0040250
drosophila_melanogasterUgt302K1FBGN0040251
drosophila_melanogasterUgt303A1FBGN0040252
drosophila_melanogasterUgt35E1FBGN0040253
drosophila_melanogasterUgt35E2FBGN0040255
drosophila_melanogasterUgt302E1FBGN0040257
drosophila_melanogasterUgt302C1FBGN0040259
drosophila_melanogasterUgt37D1FBGN0040260
drosophila_melanogasterUgt37E1FBGN0040261
drosophila_melanogasterUgt37C2FBGN0040262
drosophila_melanogasterUgt305A1FBGN0042179
drosophila_melanogasterUgt35D1FBGN0051002
caenorhabditis_elegansWBGENE00007072
caenorhabditis_elegansWBGENE00007073
caenorhabditis_elegansWBGENE00007402
caenorhabditis_elegansWBGENE00007422
caenorhabditis_elegansWBGENE00007455
caenorhabditis_elegansWBGENE00007885
caenorhabditis_elegansWBGENE00007946
caenorhabditis_elegansWBGENE00008097
caenorhabditis_elegansWBGENE00008486
caenorhabditis_elegansWBGENE00009255
caenorhabditis_elegansWBGENE00010904
caenorhabditis_elegansWBGENE00011006
caenorhabditis_elegansWBGENE00011340
caenorhabditis_elegansWBGENE00011452
caenorhabditis_elegansWBGENE00011453
caenorhabditis_elegansWBGENE00012788
caenorhabditis_elegansWBGENE00013900
caenorhabditis_elegansWBGENE00013905
caenorhabditis_elegansWBGENE00013906
caenorhabditis_elegansWBGENE00015141
caenorhabditis_elegansWBGENE00015369
caenorhabditis_elegansWBGENE00015371
caenorhabditis_elegansWBGENE00015449
caenorhabditis_elegansWBGENE00015577
caenorhabditis_elegansugt-28WBGENE00015693
caenorhabditis_elegansugt-27WBGENE00015694
caenorhabditis_elegansugt-26WBGENE00015695
caenorhabditis_elegansWBGENE00015739
caenorhabditis_elegansWBGENE00015965
caenorhabditis_elegansWBGENE00016013
caenorhabditis_elegansWBGENE00017315
caenorhabditis_elegansWBGENE00017329
caenorhabditis_elegansWBGENE00017331
caenorhabditis_elegansWBGENE00017332
caenorhabditis_elegansWBGENE00017333
caenorhabditis_elegansWBGENE00017334
caenorhabditis_elegansWBGENE00017336
caenorhabditis_elegansWBGENE00017959
caenorhabditis_elegansWBGENE00018206
caenorhabditis_elegansWBGENE00018543
caenorhabditis_elegansWBGENE00018931
caenorhabditis_elegansWBGENE00019232
caenorhabditis_elegansWBGENE00019233
caenorhabditis_elegansWBGENE00019234
caenorhabditis_elegansWBGENE00019235
caenorhabditis_elegansWBGENE00019515
caenorhabditis_elegansWBGENE00019516
caenorhabditis_elegansWBGENE00020587
caenorhabditis_elegansWBGENE00020592
caenorhabditis_elegansWBGENE00020593
caenorhabditis_elegansWBGENE00020594
caenorhabditis_elegansWBGENE00021709
caenorhabditis_elegansWBGENE00044282
caenorhabditis_elegansWBGENE00044286

Paralogs (21): UGT2B10 (ENSG00000109181), UGT2A3 (ENSG00000135220), UGT2B28 (ENSG00000135226), UGT3A1 (ENSG00000145626), UGT2B4 (ENSG00000156096), UGT1A6 (ENSG00000167165), UGT3A2 (ENSG00000168671), UGT2B7 (ENSG00000171234), UGT2A1 (ENSG00000173610), UGT8 (ENSG00000174607), UGT2B15 (ENSG00000196620), UGT2B11 (ENSG00000213759), UGT1A9 (ENSG00000241119), UGT1A1 (ENSG00000241635), UGT1A8 (ENSG00000242366), UGT1A10 (ENSG00000242515), UGT1A7 (ENSG00000244122), UGT1A4 (ENSG00000244474), UGT2A2 (ENSG00000271271), UGT1A3 (ENSG00000288702), UGT1A5 (ENSG00000288705)

Protein

Protein identifiers

UDP-glucuronosyltransferase 2B17O75795 (reviewed: O75795)

Alternative names: C19-steroid-specific UDP-glucuronosyltransferase

All UniProt accessions (2): A0A804HJ67, O75795

UniProt curated annotations — full annotation on UniProt →

Function. UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite’s water solubility, thereby facilitating excretion into either the urine or bile. Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (epitestosterone, androsterone) and estrogens (estradiol, epiestradiol).

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in various tissues including the liver, kidney, testis, uterus, placenta, mammary gland, adrenal gland, skin and prostate.

Polymorphism. Copy-number variation of UGT2B17 defines the bone mineral density quantitative trait locus 12 (BMND12) [MIM:612560]. Variance in bone mineral density is a susceptibility factor for osteoporotic fractures.

Similarity. Belongs to the UDP-glycosyltransferase family.

RefSeq proteins (1): NP_001068* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002213UDP_glucos_transFamily
IPR035595UDP_glycos_trans_CSConserved_site
IPR050271UDP-glycosyltransferaseFamily

Pfam: PF00201

Enzyme classification (BRENDA):

  • EC 2.4.1.17 — glucuronosyltransferase (BRENDA: 32 organisms, 1285 substrates, 660 inhibitors, 855 Km, 6 kcat entries)

Substrate kinetics (BRENDA)

189 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

SubstrateKm (mM)Measurements
4-METHYLUMBELLIFERONE0.0001–4.20444
MORPHINE0.0355–37.431
4-NITROPHENOL0.0102–224
PROPOFOL0.0072–0.919
ZIDOVUDINE0.508–1.5419
1-NAPHTHOL0.0025–2718
IMIPRAMINE0.0072–1.44213
TRANS-4-HYDROXYTAMOXIFEN0.0037–0.31913
SCOPOLETIN0.061–7.6411
SEROTONIN3.7–55.911
2-HYDROXYESTRONE0.0102–610
CIS-4-HYDROXYTAMOXIFEN0.0074–0.19310
DOPAMINE1.89–3.1110
1-HYDROXYBENZO(A)PYRENE0.0113–2.8699
1-HYDROXYPYRENE0.0032–2.3269

Catalyzed reactions (Rhea), 6 shown:

  • glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+) (RHEA:21032)
  • testosterone + UDP-alpha-D-glucuronate = testosterone 17-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52456)
  • 17beta-estradiol + UDP-alpha-D-glucuronate = 17beta-estradiol 17-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52464)
  • 17alpha-estradiol + UDP-alpha-D-glucuronate = 17alpha-estradiol 3-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52868)
  • 17alpha-estradiol + UDP-alpha-D-glucuronate = 17alpha-estradiol 17-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52872)
  • 17beta-hydroxy-5alpha-androstan-3-one + UDP-alpha-D-glucuronate = 5alpha-dihydrotestosterone 17-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:53000)

UniProt features (23 total): helix 9, strand 7, glycosylation site 3, signal peptide 1, chain 1, transmembrane region 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7YANX-RAY DIFFRACTION2.5

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O75795-F193.510.86

Functional residue map

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

Post-translational modifications (1): 136

Glycosylation sites (3): 65, 316, 483

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-156588Glucuronidation
R-HSA-9749641Aspirin ADME
R-HSA-9757110Prednisone ADME

MSigDB gene sets: 92 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_REGULATION_OF_HORMONE_LEVELS, chr4q13, GOBP_LIPID_METABOLIC_PROCESS, KEGG_STARCH_AND_SUCROSE_METABOLISM, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, SABATES_COLORECTAL_ADENOMA_DN, KEGG_STEROID_HORMONE_BIOSYNTHESIS, VECCHI_GASTRIC_CANCER_EARLY_DN, GOBP_ESTROGEN_METABOLIC_PROCESS, GOBP_STEROID_METABOLIC_PROCESS, KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, KEGG_DRUG_METABOLISM_OTHER_ENZYMES, REACTOME_GLUCURONIDATION

GO Biological Process (4): xenobiotic metabolic process (GO:0006805), steroid metabolic process (GO:0008202), estrogen metabolic process (GO:0008210), lipid metabolic process (GO:0006629)

GO Molecular Function (4): glucuronosyltransferase activity (GO:0015020), UDP-glycosyltransferase activity (GO:0008194), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Drug ADME2
Phase II - Conjugation of compounds1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
metabolic process1
cellular response to xenobiotic stimulus1
lipid metabolic process1
steroid metabolic process1
hormone metabolic process1
primary metabolic process1
UDP-glycosyltransferase activity1
hexosyltransferase activity1
glycosyltransferase activity1
catalytic activity1
transferase activity1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
endoplasmic reticulum subcompartment1
cellular anatomical structure1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

854 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
UGT2B17SLC35A2P78381932
UGT2B17GPRIN2O60269831
UGT2B17NBPF1Q3BBV0830
UGT2B17B3GAT2Q9NPZ5827
UGT2B17NPEPPSP55786827
UGT2B17HYDINQ4G0P3827
UGT2B17SRGAP2O75044823
UGT2B17DRD5P21918810
UGT2B17SRGAP3O43295810
UGT2B17GTF2IP78347763
UGT2B17PPIGQ13427728
UGT2B17CYP3A4P05184726
UGT2B17CYP2C9P11712632
UGT2B17CYP1A2P05177629
UGT2B17CYP2C19P33259629

IntAct

0 interactions, top by confidence:

BioGRID (2): UGT2B17 (Affinity Capture-MS), UGT2B17 (Proximity Label-MS)

ESM2 similar proteins: A5D6U8, A6H730, J3SDX8, O16956, O35409, O61866, O75795, P04068, P04634, P07098, P07099, P07687, P08430, P0DTE5, P11515, P19224, P21529, P36510, P37891, P38571, P49614, P70627, P70691, P79381, P80035, Q28611, Q29458, Q38924, Q3U4B4, Q3YBN2, Q41005, Q4R4S5, Q5VXI9, Q5VXJ0, Q5VYY2, Q5W064, Q64194, Q64435, Q64550, Q67ZU1

Diamond homologs: A0A096SRM5, A0A0B6VIJ5, A0A0D1CFF0, A0A0M4KE44, A0A193AU77, A0A1L7U2E9, A0A224AKZ9, A0A224AM54, A0A291PQF1, A0A291PQG3, A0A291PQH4, A0A2Z5CV93, A5U6W6, B4G072, C3W7B0, G2WW48, K7NBW3, O02663, O19103, O23401, O31853, O60656, O75310, O75795, O77649, O82385, O97951, P06133, P08430, P08541, P08542, P09875, P0DTE4, P0DTE5, P16662, P17717, P19224, P19488, P20720, P22309

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance57
Likely benign14
Benign20

Top pathogenic / likely-pathogenic (0)

SpliceAI

621 predictions. Top by Δscore:

VariantEffectΔscore
4:68537900:TATAG:Tacceptor_gain1.0000
4:68537901:ATAG:Aacceptor_gain1.0000
4:68537902:TAG:Tacceptor_gain1.0000
4:68537903:AG:Aacceptor_gain1.0000
4:68537903:AGC:Aacceptor_loss1.0000
4:68537904:GC:Gacceptor_loss1.0000
4:68537905:C:CCacceptor_gain1.0000
4:68537905:CTG:Cacceptor_loss1.0000
4:68537912:A:Cacceptor_gain1.0000
4:68550675:A:ACdonor_gain1.0000
4:68550676:C:CCdonor_gain1.0000
4:68550724:TG:Tdonor_gain1.0000
4:68537903:AGCTG:Aacceptor_gain0.9900
4:68537905:CTGAA:Cacceptor_loss0.9900
4:68537912:A:ACacceptor_gain0.9900
4:68537916:A:Cacceptor_gain0.9900
4:68537918:A:Cacceptor_gain0.9900
4:68550676:CATA:Cdonor_gain0.9900
4:68550676:CATAG:Cdonor_gain0.9900
4:68550695:G:Tdonor_gain0.9900
4:68550696:A:ACdonor_gain0.9900
4:68550697:C:CCdonor_gain0.9900
4:68565567:TTCAC:Tdonor_loss0.9900
4:68565568:TCA:Tdonor_loss0.9900
4:68565569:CA:Cdonor_loss0.9900
4:68565570:A:ATdonor_loss0.9900
4:68565571:CCTT:Cdonor_loss0.9900
4:68565571:CCTTA:Cdonor_loss0.9900
4:68565717:CTTC:Cacceptor_gain0.9900
4:68565718:TTC:Tacceptor_gain0.9900

AlphaMissense

3531 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:68551905:A:GW338R0.993
4:68551905:A:TW338R0.993
4:68550840:C:GA384P0.992
4:68567969:A:CS172R0.991
4:68567969:A:TS172R0.991
4:68567971:T:GS172R0.991
4:68550874:A:CF372L0.989
4:68550874:A:TF372L0.989
4:68550876:A:GF372L0.989
4:68565676:A:GW257R0.989
4:68565676:A:TW257R0.989
4:68537817:A:CF467L0.986
4:68537817:A:TF467L0.986
4:68537819:A:GF467L0.986
4:68550872:A:TI373K0.986
4:68551829:A:GL363P0.986
4:68551837:C:AQ360H0.984
4:68551837:C:GQ360H0.984
4:68568348:A:GL46P0.984
4:68537809:C:GR470P0.983
4:68550842:T:AE383V0.983
4:68551848:A:GW357R0.983
4:68551848:A:TW357R0.983
4:68550875:A:GF372S0.982
4:68551846:C:AW357C0.982
4:68551846:C:GW357C0.982
4:68560625:A:TV306E0.982
4:68551910:A:TV336D0.981
4:68568379:A:GW36R0.981
4:68568379:A:TW36R0.981

dbSNP variants (sampled 300 via entrez): RS10000724 (4:68547156 A>C,G,T), RS1000165226 (4:68570267 T>C), RS1000224662 (4:68571383 T>C), RS1000378999 (4:68543149 G>A), RS10004842 (4:68545413 G>A), RS10005524 (4:68540146 G>A), RS1000556570 (4:68577275 C>T), RS1000710023 (4:68551372 G>A,T), RS1000759371 (4:68552727 CAAAT>C), RS1000834502 (4:68544757 A>G,T), RS1001380816 (4:68576042 C>A), RS10015614 (4:68556844 T>A,C), RS10022369 (4:68561802 G>A,C), RS1002378148 (4:68558975 G>A), RS1002431883 (4:68560256 A>G)

Disease associations

OMIM: gene MIM:601903 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

StudyTraitp-value
GCST010173_167Triglyceride levels4.000000e-08
GCST010244_276Triglyceride levels4.000000e-16
GCST012020_278Serum metabolite levels1.000000e-28
GCST012020_279Serum metabolite levels2.000000e-13
GCST012020_280Serum metabolite levels1.000000e-41
GCST012020_281Serum metabolite levels8.000000e-31
GCST012020_282Serum metabolite levels2.000000e-13
GCST012020_283Serum metabolite levels2.000000e-12
GCST012020_284Serum metabolite levels1.000000e-10

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004530triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL4523985 (PROTEIN FAMILY), CHEMBL4978 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs6817882UGT2B170.000

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValue
(1R)-phenyl-[(1R,2S,7S,8S,9S)-3,3,7-trimethyltricyclo[5.4.0.02,9]undec-8-yl]methanolKI21800 nM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Hymecromoneincreases glucuronidation, increases chemical synthesis, increases metabolic processing, increases activity, decreases reaction3
Testosteronedecreases expression, increases expression, increases metabolic processing, affects cotreatment3
4-(methylnitrosamino)-1-(3-pyridyl)-1-butan-1-olincreases glucuronidation, decreases glucuronidation2
bisphenol AFdecreases activity, increases glucuronidation2
Diclofenacincreases glucuronidation2
Tetrachlorodibenzodioxinaffects cotreatment, decreases expression2
Aflatoxin B1decreases methylation, increases expression2
tucatinibdecreases activity1
daidzeinincreases expression1
methyleugenoldecreases expression1
amentoflavonedecreases activity1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanoneincreases glucuronidation1
sodium arseniteincreases expression1
4-methylumbelliferyl glucuronideincreases chemical synthesis, increases glucuronidation1
caffeic aciddecreases activity1
bicalutamidedecreases expression1
licochalcone Adecreases reaction, increases activity1
cylindrospermopsindecreases expression1
4-((methylnitrosoamino)-1-(3-pyridyl)but-1-yl)beta-omega-glucosiduronic acidincreases chemical synthesis1
p-coumaric aciddecreases activity1
lorcaserinincreases carbamoylation, increases glucuronidation1
pectolinarigeninincreases glucuronidation1
EPZ004777decreases reaction, increases expression, affects binding1
Vorinostataffects binding, decreases activity, decreases glucuronidation, decreases reaction, increases glucuronidation1
Androsteroneincreases metabolic processing1
Benzo(a)pyrenedecreases expression1
Calcitrioldecreases expression, affects cotreatment1
Chlorogenic Aciddecreases activity1
Endosulfanaffects cotreatment, decreases expression1
Estradiolaffects cotreatment, decreases expression, increases expression1

ChEMBL screening assays

76 unique, capped per target: 71 admet, 3 binding, 2 functional

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL4339708ADMETDrug metabolism in human hepatocytes assessed as UGT-mediated glucuronidation by measuring O-glucuronide formation at 10 uM measured after 4 hrs by LC-MS analysisDiscovery of Imidazo[1,2-a]pyrazines and Pyrazolo[1,5-c]pyrimidines as TARP γ-8 Selective AMPAR Negative Modulators. — ACS Med Chem Lett
CHEMBL867716BindingInhibition of UGT2B17Stereochemical sensitivity of the human UDP-glucuronosyltransferases 2B7 and 2B17. — J Med Chem
CHEMBL869550FunctionalCompetitive inhibition of UGT2B17-catalyzed scopoletin glucuronidationStereochemical sensitivity of the human UDP-glucuronosyltransferases 2B7 and 2B17. — J Med Chem

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.