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UGT2B10

gene
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Summary

UGT2B10 (UDP glucuronosyltransferase family 2 member B10, HGNC:12544) is a protein-coding gene on chromosome 4q13.2, encoding UDP-glucuronosyltransferase 2B10 (P36537). UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.

Predicted to enable UDP-glycosyltransferase activity. Predicted to be involved in estrogen metabolic process. Predicted to be located in endoplasmic reticulum membrane.

Source: NCBI Gene 7365 — RefSeq curated summary.

At a glance

  • GWAS associations: 11
  • Clinical variants (ClinVar): 107 total
  • Druggable target: yes
  • MANE Select transcript: NM_001075

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:12544
Approved symbolUGT2B10
NameUDP glucuronosyltransferase family 2 member B10
Location4q13.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000109181
Ensembl biotypeprotein_coding
OMIM600070
Entrez7365

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000265403, ENST00000458688, ENST00000878267, ENST00000878268, ENST00000878269, ENST00000878270, ENST00000878271, ENST00000878272

RefSeq mRNA: 3 — MANE Select: NM_001075 NM_001075, NM_001144767, NM_001290091

CCDS: CCDS75135, CCDS75136

Canonical transcript exons

ENST00000265403 — 6 exons

ExonStartEnd
ENSE000010126786881599468816737
ENSE000016216816882227168822402
ENSE000016981696883060068832023
ENSE000017027166882732968827548
ENSE000017584376882641068826497
ENSE000017847676881802968818177

Expression profiles

Bgee: expression breadth broad, 29 present calls, max score 97.26.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8012 / max 436.5880, expressed in 17 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
478280.777216
523500.02407

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
liverUBERON:000210797.26gold quality
right lobe of liverUBERON:000111496.75gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047377.01gold quality
gall bladderUBERON:000211066.90gold quality
rectumUBERON:000105252.65gold quality
mucosa of transverse colonUBERON:000499151.40gold quality
islet of LangerhansUBERON:000000650.77gold quality
colonic epitheliumUBERON:000039750.65gold quality
adrenal tissueUBERON:001830346.03gold quality
kidneyUBERON:000211340.53gold quality
transverse colonUBERON:000115740.46gold quality
pancreasUBERON:000126438.46gold quality
cortex of kidneyUBERON:000122537.40silver quality
ganglionic eminenceUBERON:000402337.21gold quality
apex of heartUBERON:000209837.13gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
bone marrow cellCL:000209236.16gold quality
hindlimb stylopod muscleUBERON:000425235.94gold quality
testisUBERON:000047335.36gold quality
colonUBERON:000115535.06gold quality
left testisUBERON:000453334.87gold quality
intestineUBERON:000016034.45gold quality
adult mammalian kidneyUBERON:000008234.17silver quality
bloodUBERON:000017833.73gold quality
muscle tissueUBERON:000238533.51gold quality
skeletal muscle tissueUBERON:000113433.38gold quality
bone marrowUBERON:000237132.85gold quality
heartUBERON:000094832.61gold quality
tonsilUBERON:000237232.42gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no1.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting UGT2B10, 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-656-3P100.0072.152788
HSA-MIR-3064-3P100.0070.091254
HSA-MIR-5692A100.0074.406850
HSA-MIR-453199.9969.703181
HSA-MIR-570-3P99.9672.414910
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-6508-5P99.9270.672465
HSA-MIR-7-1-3P99.9171.534384
HSA-MIR-7-2-3P99.9171.404394
HSA-MIR-345-3P99.8970.231421
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-137-3P99.8774.742401
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-806799.8669.592260
HSA-MIR-94499.8270.853042
HSA-MIR-4760-5P99.8069.881619
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-128399.6972.423009
HSA-MIR-519A-3P99.6771.671868
HSA-MIR-519B-3P99.6771.671868
HSA-MIR-519C-3P99.6771.671870
HSA-MIR-670-5P99.6769.941565

Literature-anchored findings (GeneRIF, showing 17)

  • Nicotine glucuronidation and UGT2B10 is reported. (PMID:17576790)
  • Data suggest that UGT2B10 is the major hepatic enzyme involved in nicotine/cotinine glucuronidation and that the UGT2B10*2 variant reduces nicotine- and cotinine-N-glucuronidation formation and plays a role in nicotine metabolism and elimination. (PMID:17909004)
  • The UGT2B10(67Tyr) variant corresponding to haplotype C is a functional single nucleotide polymorphism that may be responsible for inter individual variation in NNAL-N-glucuronidation activity and may increase susceptibility to smoking-related cancers. (PMID:18300939)
  • UGT2B10 genotype influences nicotine metabolism and should be taken into account when characterizing the role of nicotine metabolism on smoking. (PMID:20501767)
  • Data show that UGT2B10 predicts MD independently of age, hormone therapy and parity. (PMID:20799965)
  • 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)
  • 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)
  • the substrate specificity of UGT2B10, highlighting its preference for tertiary amines with higher affinities and clearance values than those of UGT1A4 and UGT1A3. (PMID:23611809)
  • CYP2A6 and UGT2B10 genotype explain 53% of the variance in oral nicotine glucuronidation. They are also significantly associated with undeuterated (D0) nicotine glucuronidation in individuals smoking ad libitum. (PMID:24192532)
  • UGT2B10 variant allele carriers had increased levels of C-oxidation (P = 0.0099)and all pathways should be considered when characterizing the role of nicotine metabolism on smoking behavior and cancer risk. (PMID:25233931)
  • Spatial features influence the potency of UGT2B10 inhibition. (PMID:26669329)
  • UGT2B10 activity or genotype should be considered when using cotinine as a tobacco exposure biomarker, particularly in populations such as African American with high frequencies of UGT2B10 nonfunctional variants. (PMID:28264876)
  • a cis-regulatory SNP for human UGT2B10 (PMID:29431853)
  • A significant contribution of AS in the regulation of UGT2B10 expression in the liver. (PMID:29438977)
  • The high prevalence of a UGT2B10 splice variant among African Americans results in lower 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL), - N-glucuronidation but only a small decrease in total NNAL glucuronidation. Therefore, despite the significant contribution of UGT2B10 to NNAL- N-glucuronidation, the UGT2B10 genotype does not play a large role in NNAL detoxication. (PMID:29460622)
  • UGT2B10 was for the first time identified as an N-glucosidation enzyme. Generated N-glucosides were excreted primarily by the BCRP transporter. (PMID:29691239)
  • UGT2B10 Genotype Influences Serum Cotinine Levels and Is a Primary Determinant of Higher Cotinine in African American Smokers. (PMID:32532831)

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): UGT2A3 (ENSG00000135220), UGT2B28 (ENSG00000135226), UGT3A1 (ENSG00000145626), UGT2B4 (ENSG00000156096), UGT1A6 (ENSG00000167165), UGT3A2 (ENSG00000168671), UGT2B7 (ENSG00000171234), UGT2A1 (ENSG00000173610), UGT8 (ENSG00000174607), UGT2B15 (ENSG00000196620), UGT2B17 (ENSG00000197888), 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 2B10 — P36537 (reviewed: P36537)

All UniProt accessions (1): P36537

UniProt curated annotations — full annotation on UniProt →

Function. UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.

Subcellular location. Microsome membrane. Endoplasmic reticulum membrane.

Similarity. Belongs to the UDP-glycosyltransferase family.

Isoforms (2)

UniProt IDNamesCanonical?
P36537-11yes
P36537-22

RefSeq proteins (3): NP_001066, NP_001138239, NP_001277020 (=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), 1 shown:

  • glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + UDP + H(+) (RHEA:21032)

UniProt features (23 total): helix 7, strand 6, glycosylation site 3, turn 2, signal peptide 1, chain 1, transmembrane region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7YF5X-RAY DIFFRACTION1.53

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P36537-F192.340.84

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): 134

Glycosylation sites (3): 66, 314, 481

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 80 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_REGULATION_OF_HORMONE_LEVELS, chr4q13, TCF11_01, MODULE_99, GOBP_LIPID_METABOLIC_PROCESS, KEGG_STARCH_AND_SUCROSE_METABOLISM, KEGG_STEROID_HORMONE_BIOSYNTHESIS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MODULE_112, 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

GO Biological Process (2): lipid metabolic process (GO:0006629), estrogen metabolic process (GO:0008210)

GO Molecular Function (3): UDP-glycosyltransferase activity (GO:0008194), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

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

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Phase II - Conjugation of compounds1
Drug ADME1

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

962 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
UGT2B10SLC35A2P78381972
UGT2B10PPIGQ13427764
UGT2B10CYP3A4P05184726
UGT2B10CYP2A6P00190664
UGT2B10CYP1A2P05177651
UGT2B10CYP2C9P11712648
UGT2B10CYP2C19P33259629
UGT2B10SULT1C3Q6IMI6621
UGT2B10SULT1B1O43704619
UGT2B10SULT1C4O75897615
UGT2B10CYP2D6P10635610
UGT2B10CYP2B6P20813604
UGT2B10CYP2C8P10632582
UGT2B10SLCO1B1Q9Y6L6577
UGT2B10FMO3P31513530

IntAct

3 interactions, top by confidence:

ABTypeScore
MAPK14UGT2B10psi-mi:“MI:0915”(physical association)0.370
UGT2B28POTEFpsi-mi:“MI:0914”(association)0.350

BioGRID (4): UGT2B10 (Affinity Capture-MS), UGT2B10 (Affinity Capture-MS), UGT2B10 (Affinity Capture-MS), UGT2B10 (Two-hybrid)

ESM2 similar proteins: A0A291PQF1, A0A291PQG3, A0A291PQH4, A8WLF6, O16881, O19103, O75310, P08541, P08542, P09875, P16662, P17717, P18569, P19488, P34317, P36511, P36513, P36537, Q09426, Q10941, Q10944, Q16880, Q18081, Q1LZI1, Q20086, Q21706, Q22180, Q22181, Q22295, Q25489, Q27757, Q3SY77, Q3UP75, Q5RFJ3, Q62789, Q63ZR6, Q64676, Q6K1J1, Q6NUS8, Q6PDD0

Diamond homologs: A0A0A1H7N4, A0A0A1HA03, A0A0C1EH92, A0A0D5ZDC8, A0A0G2EAR7, A0A193AU77, A0A193AUF6, A0A1L7U2E9, A0A224AKZ9, A0A224AM54, A0A291PQF1, A0A2Z5CV93, A0A364KRL8, A0A478EC03, B3VI56, F8WKW0, G2WW48, K4GHR9, K4GHS2, K4GKX2, K7NBW3, O02663, O23401, O60656, O75310, O81498, O97951, P06133, P08430, P08542, P09875, P0DTE4, P0DTE5, P17717, P19224, P20720, P22309, P36510, P36513, P36537

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance101
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

847 predictions. Top by Δscore:

VariantEffectΔscore
4:68822267:A:AGacceptor_gain1.0000
4:68822267:ACCG:Aacceptor_gain1.0000
4:68822270:G:Aacceptor_gain1.0000
4:68830592:T:Gacceptor_gain1.0000
4:68830598:A:AGacceptor_gain1.0000
4:68830599:G:GGacceptor_gain1.0000
4:68830599:GAT:Gacceptor_gain1.0000
4:68818025:T:Gacceptor_gain0.9900
4:68818028:GGAA:Gacceptor_gain0.9900
4:68818173:CTAAG:Cdonor_loss0.9900
4:68818174:TAAGG:Tdonor_loss0.9900
4:68818175:AAGG:Adonor_loss0.9900
4:68818176:AGGT:Adonor_loss0.9900
4:68818177:GGTA:Gdonor_loss0.9900
4:68818178:GTAA:Gdonor_loss0.9900
4:68818179:T:Adonor_loss0.9900
4:68822267:ACC:Aacceptor_gain0.9900
4:68822268:C:Gacceptor_gain0.9900
4:68822269:C:Aacceptor_gain0.9900
4:68827536:T:Gdonor_gain0.9900
4:68827544:CCTTC:Cdonor_gain0.9900
4:68827545:CTTC:Cdonor_gain0.9900
4:68827546:TTC:Tdonor_gain0.9900
4:68827549:G:GGdonor_gain0.9900
4:68828141:C:Gdonor_gain0.9900
4:68830591:A:AGacceptor_gain0.9900
4:68830596:TCA:Tacceptor_loss0.9900
4:68830597:CAGA:Cacceptor_loss0.9900
4:68830598:AGAT:Aacceptor_loss0.9900
4:68830599:GA:Gacceptor_gain0.9900

AlphaMissense

3517 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
4:68826416:T:AW336R0.977
4:68826416:T:CW336R0.977
4:68827385:G:CA382P0.968
4:68830685:T:CF465L0.968
4:68830687:T:AF465L0.968
4:68830687:T:GF465L0.968
4:68816449:T:CF144L0.965
4:68816451:T:AF144L0.965
4:68816451:T:GF144L0.965
4:68830695:G:CR468P0.960
4:68827512:T:CL424P0.959
4:68830673:T:CF461L0.957
4:68830675:C:AF461L0.957
4:68830675:C:GF461L0.957
4:68822283:T:CF294L0.949
4:68822285:T:AF294L0.949
4:68822285:T:GF294L0.949
4:68827472:G:CA411P0.949
4:68827524:T:CL428P0.949
4:68826492:T:CL361P0.948
4:68827353:T:AI371K0.947
4:68830667:G:CA459P0.945
4:68827349:T:CF370L0.944
4:68827351:T:AF370L0.944
4:68827351:T:GF370L0.944
4:68816153:T:CL45P0.943
4:68822314:T:AV304E0.940
4:68826422:T:CF338L0.939
4:68826424:T:AF338L0.939
4:68826424:T:GF338L0.939

dbSNP variants (sampled 300 via entrez): RS1000255399 (4:68818601 A>G), RS1000287961 (4:68818880 T>C), RS1000537771 (4:68814112 G>T), RS1000594404 (4:68817518 GAGT>G), RS1000755614 (4:68822202 C>G,T), RS10007687 (4:68821450 G>A,T), RS1000837126 (4:68826844 A>T), RS1001004409 (4:68830397 C>T), RS1001425739 (4:68824024 G>A,C), RS1001478891 (4:68828481 T>G), RS1001510255 (4:68828702 CAT>C), RS1001843753 (4:68827809 C>G,T), RS1002057902 (4:68831606 C>A), RS1003049464 (4:68817164 A>G), RS1003436381 (4:68816082 T>C,G)

Disease associations

OMIM: gene MIM:600070 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

StudyTraitp-value
GCST002649_1Nicotine glucouronidation3.000000e-43
GCST002652_1Cotinine glucuronidation6.000000e-91
GCST002652_2Cotinine glucuronidation2.000000e-50
GCST002652_3Cotinine glucuronidation2.000000e-155
GCST002652_4Cotinine glucuronidation6.000000e-48
GCST005916_1Cotinine levels in smokers with chronic obstructive pulmonary disease1.000000e-11
GCST005994_9Hematocrit4.000000e-08
GCST005995_1Hemoglobin2.000000e-08
GCST007684_1Plasma clozapine-norclozapine ratio in treatment-resistant schizophrenia9.000000e-66
GCST007686_1Plasma norclozapine levels in treatment-resistant schizophrenia5.000000e-15
GCST90002404_79Red cell distribution width4.000000e-23

EFO canonical traits (8, from GWAS)

EFO IDTrait name
EFO:0006507nicotine glucuronidation measurement
EFO:0006508cotinine glucuronidation measurement
EFO:0007813cotinine measurement
EFO:0004348hematocrit
EFO:0004509hemoglobin measurement
EFO:0600040plasma clozapine-to-N-desmethylclozapine ratio measurement
EFO:0600039plasma N-desmethylclozapine measurement
EFO:0009188Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL4523985 (PROTEIN FAMILY), CHEMBL6160 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

3 annotations.

VariantTypeLevelDrugsPhenotypes
rs112561475Metabolism/PK3nicotine
rs2942857Metabolism/PK3cotinineTobacco Use Disorder
rs61750900Metabolism/PK3nicotine

PharmGKB variants

6 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs835309UGT2B100.000
rs11726322UGT2B100.000
rs61750900UGT2B1033.001nicotine
rs112561475UGT2B1031.501nicotine
rs2942857UGT2B1033.001cotinine
rs1841042UGT2B100.000

Binding affinities (BindingDB)

2 measured of 14 human assays (19 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

LigandMeasureValuePatent
4-Amino-N-(2-phenyl-2H-pyrazol-3-yl)-benzenesulfonamideIC50210 nMUS-9688624: DP2 antagonist and uses thereof
3-(furan-2-ylmethyl)-1,8-dimethyl-1H-purine-2,6(3H,7H)-dioneIC502200 nMUS-9688624: DP2 antagonist and uses thereof

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Phenobarbitalaffects expression, decreases expression, increases expression3
Aflatoxin B1decreases methylation, increases expression3
bisphenol Aaffects expression, increases expression2
perfluorooctanoic aciddecreases expression2
perfluorooctane sulfonic aciddecreases expression2
Benzo(a)pyreneincreases methylation, increases mutagenesis2
dicrotophosdecreases expression1
propionaldehydeincreases methylation1
N’-nitrosonornicotineincreases glucuronidation1
nonanalincreases methylation1
N’-nitrosoanabasineincreases glucuronidation1
n-hexanalincreases methylation1
4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanoneincreases glucuronidation1
sodium arsenitedecreases expression1
butyraldehydeincreases methylation1
caprylic aldehydeincreases methylation1
N’-nitrosoanatabineincreases glucuronidation1
pentanalincreases methylation1
heptanalincreases methylation1
2-hydroxyamino-1-methyl-6-phenylimidazo(4,5-b)pyridineaffects binding, increases reaction, increases metabolic processing1
perfluoro-n-nonanoic aciddecreases expression1
obeticholic acidincreases expression1
Biological Factorsdecreases expression1
Chenodeoxycholic Acidincreases expression1
Diethylnitrosaminedecreases expression1
Dustincreases expression1
Silicon Dioxidedecreases expression1
Tetrachlorodibenzodioxindecreases expression1
Urethanedecreases expression1
Palmitic Aciddecreases expression1

ChEMBL screening assays

37 unique, capped per target: 36 admet, 1 binding

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
CHEMBL903754BindingInhibition of human recombinant UGT2B10 at 25 uM by fluorescence spectroscopyIsoform-selective inhibition of the human UDP-glucuronosyltransferase 2B7 by isolongifolol derivatives. — 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.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 79

This page pulls from 79 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpatentpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot