UGT2A1

Summary

UGT2A1 (UDP glucuronosyltransferase family 2 member A1 complex locus, HGNC:12542) is a protein-coding gene on chromosome 4q13.3, encoding UDP-glucuronosyltransferase 2A1 (P0DTE4). 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.

The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection.

Source: NCBI Gene 10941 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 84 total
• Druggable target: yes
• MANE Select transcript: NM_001252275

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12542
Approved symbol	UGT2A1
Name	UDP glucuronosyltransferase family 2 member A1 complex locus
Location	4q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000173610
Ensembl biotype	protein_coding
OMIM	604716
Entrez	10941

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000286604, ENST00000502343, ENST00000503640, ENST00000505512, ENST00000512704, ENST00000514019, ENST00000514341

RefSeq mRNA: 5 — MANE Select: NM_001252275 NM_001252274, NM_001252275, NM_001301239, NM_001389565, NM_006798

CCDS: CCDS3529, CCDS58901, CCDS58902, CCDS77925

Canonical transcript exons

ENST00000286604 — 7 exons

Exon	Start	End
ENSE00002029804	69653188	69653247
ENSE00002052441	69635691	69635822
ENSE00003713386	69588417	69589651
ENSE00003784238	69594477	69594696
ENSE00003788967	69599246	69599394
ENSE00003789304	69646930	69647698
ENSE00003789736	69595162	69595249

Expression profiles

Bgee: expression breadth broad, 56 present calls, max score 98.43.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0508 / max 22.4107, expressed in 18 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52369	0.0396	12
52363	0.0070	3
52364	0.0042	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory segment of nasal mucosa	UBERON:0005386	98.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.00	gold quality
liver	UBERON:0002107	69.00	gold quality
pituitary gland	UBERON:0000007	67.97	gold quality
right lobe of liver	UBERON:0001114	67.09	gold quality
adenohypophysis	UBERON:0002196	66.63	gold quality
sural nerve	UBERON:0015488	63.19	gold quality
kidney	UBERON:0002113	60.73	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.89	gold quality
adult mammalian kidney	UBERON:0000082	57.75	gold quality
cortex of kidney	UBERON:0001225	48.76	gold quality
metanephros cortex	UBERON:0010533	47.95	gold quality
skin of abdomen	UBERON:0001416	42.18	gold quality
zone of skin	UBERON:0000014	40.73	gold quality
stromal cell of endometrium	CL:0002255	39.35	gold quality
skin of leg	UBERON:0001511	39.11	gold quality
right lung	UBERON:0002167	38.68	gold quality
granulocyte	CL:0000094	38.00	gold quality
placenta	UBERON:0001987	37.24	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
smooth muscle tissue	UBERON:0001135	37.12	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
mucosa of transverse colon	UBERON:0004991	36.25	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
descending thoracic aorta	UBERON:0002345	35.81	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	35.39	gold quality
skeletal muscle tissue	UBERON:0001134	35.01	gold quality
left uterine tube	UBERON:0001303	34.57	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting UGT2A1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-8062	99.88	68.43	995
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-4503	99.85	71.45	1869
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-6128	99.33	67.83	1581

Literature-anchored findings (GeneRIF, showing 8)

• Single-nucleotide polymorphisms (SNPs) were found in UGT2A1 gene (PMID:12376738)
• Results show that UGT2A2 not only shares exons 2-6 with UGT2A1, it also shares with it a similar tissue expression pattern; both UGTs are primarily expressed in nasal epithelium. The 3rd member of UGT2A subfamily, UGT2A3 exhibited a different tissue expression pattern, found mainly in liver and small intestine. (PMID:19858781)
• UGT2A1 is an important detoxification enzyme in the metabolism of polycyclic aromatic hydrocarbons. (PMID:21164388)
• Expression of novel UDP-glucuronosyltransferase 2A1 splice variant could play an important role in the detoxification of carcinogens within target tissues for tobacco carcinogenesis. (PMID:22984225)
• The Km values of UGT2A1 varied between 102.2 +/- 14.3 microM and 2.4 +/- 1.2 mM. (PMID:23756265)
• association of SNPs of PEAR1, P2Y12, and UGT2A1 with platelet reactivity in 290 Chinese patients with acute coronary syndrome treated with aspirin and clopidogrel (PMID:29635252)
• Regulation of UGT2A1 by miR-196a-5p and miR-196b-5p (PMID:30850392)
• The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste. (PMID:35039640)

Cross-species orthologs

107 orthologs

Organism	Symbol	Gene ID
danio_rerio	ugt5d1	ENSDARG00000002394
danio_rerio	ugt5c2	ENSDARG00000006372
danio_rerio	ugt5a1	ENSDARG00000016479
danio_rerio	ugt5g1	ENSDARG00000032862
danio_rerio	ugt5g2	ENSDARG00000043901
danio_rerio	ugt5f1	ENSDARG00000054835
danio_rerio	ugt5e1	ENSDARG00000058048
danio_rerio	ugt5c3	ENSDARG00000061439
danio_rerio	ugt5c1	ENSDARG00000061444
danio_rerio	ugt2a7	ENSDARG00000091624
danio_rerio	ugt5b4	ENSDARG00000091916
danio_rerio	ugt2b1	ENSDARG00000093043
danio_rerio	ugt5a2	ENSDARG00000093640
danio_rerio	ugt5b3	ENSDARG00000099276
danio_rerio	ugt5b2	ENSDARG00000101495
danio_rerio	ugt5b5	ENSDARG00000104203
danio_rerio	ugt5b1	ENSDARG00000104995
danio_rerio	ugt2b3	ENSDARG00000109611
danio_rerio		ENSDARG00000110614
danio_rerio		ENSDARG00000113218
danio_rerio	ugt2b5	ENSDARG00000116986
mus_musculus	Ugt2a1	ENSMUSG00000106677
drosophila_melanogaster	Ugt36A1	FBGN0015663
drosophila_melanogaster	Ugt35B1	FBGN0026314
drosophila_melanogaster	Ugt35A1	FBGN0026315
drosophila_melanogaster	Ugt37C1	FBGN0026754
drosophila_melanogaster	Ugt37B1	FBGN0026755
drosophila_melanogaster	Ugt37A1	FBGN0026756
drosophila_melanogaster	Ugt36E1	FBGN0027070
drosophila_melanogaster	Ugt49B1	FBGN0027073
drosophila_melanogaster	Ugt36F1	FBGN0027074
drosophila_melanogaster	Ugt307A1	FBGN0031887
drosophila_melanogaster	Ugt36D1	FBGN0032713
drosophila_melanogaster	Ugt49C1	FBGN0034605
drosophila_melanogaster	Ugt316A1	FBGN0036842
drosophila_melanogaster	Ugt37A2	FBGN0038082
drosophila_melanogaster	Ugt37A3	FBGN0038083
drosophila_melanogaster	Ugt49B2	FBGN0038886
drosophila_melanogaster	Ugt303B3	FBGN0039085
drosophila_melanogaster	Ugt303B1	FBGN0039086
drosophila_melanogaster	Ugt303B2	FBGN0039087
drosophila_melanogaster	Ugt304A1	FBGN0040250
drosophila_melanogaster	Ugt302K1	FBGN0040251
drosophila_melanogaster	Ugt303A1	FBGN0040252
drosophila_melanogaster	Ugt35E1	FBGN0040253
drosophila_melanogaster	Ugt35E2	FBGN0040255
drosophila_melanogaster	Ugt302E1	FBGN0040257
drosophila_melanogaster	Ugt302C1	FBGN0040259
drosophila_melanogaster	Ugt37D1	FBGN0040260
drosophila_melanogaster	Ugt37E1	FBGN0040261
drosophila_melanogaster	Ugt37C2	FBGN0040262
drosophila_melanogaster	Ugt305A1	FBGN0042179
drosophila_melanogaster	Ugt35D1	FBGN0051002
caenorhabditis_elegans		WBGENE00007072
caenorhabditis_elegans		WBGENE00007073
caenorhabditis_elegans		WBGENE00007402
caenorhabditis_elegans		WBGENE00007422
caenorhabditis_elegans		WBGENE00007455
caenorhabditis_elegans		WBGENE00007885
caenorhabditis_elegans		WBGENE00007946
caenorhabditis_elegans		WBGENE00008097
caenorhabditis_elegans		WBGENE00008486
caenorhabditis_elegans		WBGENE00009255
caenorhabditis_elegans		WBGENE00010904
caenorhabditis_elegans		WBGENE00011006
caenorhabditis_elegans		WBGENE00011340
caenorhabditis_elegans		WBGENE00011452
caenorhabditis_elegans		WBGENE00011453
caenorhabditis_elegans		WBGENE00012788
caenorhabditis_elegans		WBGENE00013900
caenorhabditis_elegans		WBGENE00013905
caenorhabditis_elegans		WBGENE00013906
caenorhabditis_elegans		WBGENE00015141
caenorhabditis_elegans		WBGENE00015369
caenorhabditis_elegans		WBGENE00015371
caenorhabditis_elegans		WBGENE00015449
caenorhabditis_elegans		WBGENE00015577
caenorhabditis_elegans	ugt-28	WBGENE00015693
caenorhabditis_elegans	ugt-27	WBGENE00015694
caenorhabditis_elegans	ugt-26	WBGENE00015695
caenorhabditis_elegans		WBGENE00015739
caenorhabditis_elegans		WBGENE00015965
caenorhabditis_elegans		WBGENE00016013
caenorhabditis_elegans		WBGENE00017315
caenorhabditis_elegans		WBGENE00017329
caenorhabditis_elegans		WBGENE00017331
caenorhabditis_elegans		WBGENE00017332
caenorhabditis_elegans		WBGENE00017333
caenorhabditis_elegans		WBGENE00017334
caenorhabditis_elegans		WBGENE00017336
caenorhabditis_elegans		WBGENE00017959
caenorhabditis_elegans		WBGENE00018206
caenorhabditis_elegans		WBGENE00018543
caenorhabditis_elegans		WBGENE00018931
caenorhabditis_elegans		WBGENE00019232
caenorhabditis_elegans		WBGENE00019233
caenorhabditis_elegans		WBGENE00019234
caenorhabditis_elegans		WBGENE00019235
caenorhabditis_elegans		WBGENE00019515
caenorhabditis_elegans		WBGENE00019516
caenorhabditis_elegans		WBGENE00020587
caenorhabditis_elegans		WBGENE00020592
caenorhabditis_elegans		WBGENE00020593
caenorhabditis_elegans		WBGENE00020594
caenorhabditis_elegans		WBGENE00021709
caenorhabditis_elegans		WBGENE00044282
caenorhabditis_elegans		WBGENE00044286

Paralogs (21): UGT2B10 (ENSG00000109181), UGT2A3 (ENSG00000135220), UGT2B28 (ENSG00000135226), UGT3A1 (ENSG00000145626), UGT2B4 (ENSG00000156096), UGT1A6 (ENSG00000167165), UGT3A2 (ENSG00000168671), UGT2B7 (ENSG00000171234), 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 2A1 — P0DTE4 (reviewed: P0DTE4)

All UniProt accessions (4): P0DTE4, A0A140T9Z0, D6RFW5, D6RHF3

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. Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds. Catalyzes the glucuronidation of endogenous steroid hormones such as androgens (testosterone and epitestosterone) and estrogens (estradiol and epiestriol). Contributes to bile acid (BA) detoxification by catalyzing the glucuronidation of BA substrates, which are natural detergents for dietary lipids absorption. Shows a high affinity to aliphatic odorants such as citronellol as well as olfactory tissue specificity, and therefore may be involved in olfaction. Shows a potential role in detoxification of toxic waste compounds in the amniotic fluid before birth, and air-born chemical after birth.

Subcellular location. Membrane. Endoplasmic reticulum membrane.

Tissue specificity. Olfactory epithelium, brain and fetal lung. Not present in liver.

Miscellaneous. UGT2A1 isoform is part of the UGT2A complex locus which displays alternative use of promoters and exons. The locus is defined by 2 alternative promoters giving rise to 2 functionally active polypeptides UGT2A1 and UGT2A2. Alternative splicing of exons results in additional isoforms for each protein class.

Similarity. Belongs to the UDP-glycosyltransferase family.

Isoforms (3)

UniProt ID	Names	Canonical?
P0DTE4-5	3	yes
P0DTE4-1	1
P0DTE4-4	2

RefSeq proteins (5): NP_001239203, NP_001239204, NP_001288168, NP_001376494, NP_006789 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002213	UDP_glucos_trans	Family
IPR035595	UDP_glycos_trans_CS	Conserved_site
IPR050271	UDP-glycosyltransferase	Family

Pfam: PF00201

Catalyzed reactions (Rhea), 12 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 3-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52460)
• 17beta-estradiol + UDP-alpha-D-glucuronate = 17beta-estradiol 17-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52464)
• epitestosterone + UDP-alpha-D-glucuronate = epitestosterone 17-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52568)
• 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)
• 16beta,17beta-estriol + UDP-alpha-D-glucuronate = 16beta,17beta-estriol 16-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52880)
• 16alpha,17alpha-estriol + UDP-alpha-D-glucuronate = 16alpha,17alpha-estriol 16-O-(beta-D-glucuronate) + UDP + H(+) (RHEA:52920)
• deoxycholate + UDP-alpha-D-glucuronate = deoxycholoyl-24-O-(beta-D-glucuronate) + UDP (RHEA:52948)
• lithocholate + UDP-alpha-D-glucuronate = lithocholoyl-24-O-(beta-D-glucuronate) + UDP (RHEA:52952)
• hyodeoxycholate + UDP-alpha-D-glucuronate = hyodeoxycholoyl-24-O-(beta-D-glucuronate) + UDP (RHEA:52956)

UniProt features (14 total): glycosylation site 3, splice variant 3, sequence variant 2, topological domain 2, signal peptide 1, chain 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DTE4-F1	88.61	0.81

Functional residue map

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

Glycosylation sites (3): 313, 49, 347

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-156588	Glucuronidation
R-HSA-9749641	Aspirin ADME

MSigDB gene sets: 57 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, chr4q13, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, KEGG_STARCH_AND_SUCROSE_METABOLISM, GOBP_SENSORY_PERCEPTION, KEGG_STEROID_HORMONE_BIOSYNTHESIS, 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, GOCC_ORGANELLE_SUBCOMPARTMENT

GO Biological Process (6): xenobiotic metabolic process (GO:0006805), sensory perception of chemical stimulus (GO:0007606), sensory perception of smell (GO:0007608), bile acid metabolic process (GO:0008206), response to symbiont (GO:0009608), 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), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Phase II - Conjugation of compounds	1
Drug ADME	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
metabolic process	1
cellular response to xenobiotic stimulus	1
sensory perception	1
sensory perception of chemical stimulus	1
steroid metabolic process	1
monocarboxylic acid metabolic process	1
response to other organism	1
primary metabolic process	1
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
glycosyltransferase activity	1
catalytic activity	1
transferase activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

754 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UGT2A1	SLC35A2	P78381	950
UGT2A1	PPIG	Q13427	761
UGT2A1	CYP3A4	P05184	726
UGT2A1	SULT1C3	Q6IMI6	632
UGT2A1	SULT1B1	O43704	631
UGT2A1	CYP2C9	P11712	629
UGT2A1	CYP1A2	P05177	629
UGT2A1	SULT1C4	O75897	621
UGT2A1	CYP2C19	P33259	615
UGT2A1	CYP2D6	P10635	590
UGT2A1	CYP2B6	P20813	589
UGT2A1	SLCO1B1	Q9Y6L6	573
UGT2A1	CYP1A1	P04798	530
UGT2A1	CYP2C8	P10632	527
UGT2A1	B3GAT2	Q9NPZ5	496

IntAct

2 interactions, top by confidence:

A	B	Type	Score
UGT2A1	UGT2B15	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A0A291PQH4, O02663, O19103, O75310, O75795, O77649, O97951, P06133, P08430, P08541, P08542, P09875, P0DTE4, P0DTE5, P16662, P17717, P19488, P36510, P36511, P36512, P36513, P36514, P36537, P54855, P70691, Q09426, Q16880, Q18081, Q1LZI1, Q28611, Q3SY77, Q3UP75, Q5RFJ3, Q62789, Q63ZR6, Q64435, Q64676, Q6K1J1, Q6NUS8, Q6PDD0

Diamond homologs: A0A096LPI5, A6NIU2, A6NJG6, F2Z398, P0DTE4, P51957, Q09FC8, Q5H9K5, Q5T7P6, Q68CZ1, Q6B4Z3, Q6UX73, Q86U02, Q8IV13, Q8N7M2, Q8N9N2, Q8NDZ0, Q8NEM8, Q8TDM0, Q92918, Q96J02, Q96MD7, Q9BUA6, Q9NXG0, A0A0A1H7N4, A0A0A1HA03, A0A0C1EH92, A0A0D5ZDC8, A0A0G2EAR7, A0A193AU77, A0A193AUF6, A0A1L7U2E9, A0A224AKZ9, A0A224AM54, A0A291PQF1, A0A2Z5CV93, A0A364KRL8, A0A478EC03, B3VI56, F8WKW0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1181 predictions. Top by Δscore:

Variant	Effect	Δscore
4:69589647:TATAA:T	acceptor_gain	1.0000
4:69589648:ATAA:A	acceptor_gain	1.0000
4:69589649:TAA:T	acceptor_gain	1.0000
4:69589650:AA:A	acceptor_gain	1.0000
4:69589651:ACTA:A	acceptor_loss	1.0000
4:69589652:C:CC	acceptor_gain	1.0000
4:69589652:C:T	acceptor_loss	1.0000
4:69589653:T:C	acceptor_loss	1.0000
4:69595114:A:C	donor_gain	1.0000
4:69594476:CGAAG:C	donor_gain	0.9900
4:69617014:G:C	donor_gain	0.9900
4:69589651:ACT:A	acceptor_gain	0.9800
4:69589652:CT:C	acceptor_gain	0.9800
4:69594475:A:AC	donor_gain	0.9800
4:69594476:C:CC	donor_gain	0.9800
4:69594476:CGA:C	donor_gain	0.9800
4:69594664:C:CT	acceptor_gain	0.9800
4:69595273:T:C	acceptor_gain	0.9800
4:69595273:T:TC	acceptor_gain	0.9800
4:69642173:T:TA	donor_gain	0.9800
4:69589650:AAC:A	acceptor_gain	0.9700
4:69589650:AACT:A	acceptor_gain	0.9700
4:69589653:T:G	acceptor_gain	0.9700
4:69594476:CGAA:C	donor_gain	0.9700
4:69594546:T:TA	donor_gain	0.9700
4:69594702:T:TC	acceptor_gain	0.9700
4:69596325:C:CT	acceptor_gain	0.9700
4:69589648:ATAAC:A	acceptor_gain	0.9600
4:69589649:TAAC:T	acceptor_gain	0.9600
4:69589652:C:A	acceptor_gain	0.9600

AlphaMissense

3466 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:69594581:G:C	N400K	0.996
4:69594581:G:T	N400K	0.996
4:69595243:A:G	W335R	0.996
4:69595243:A:T	W335R	0.996
4:69594595:C:G	D396H	0.995
4:69594640:C:G	A381P	0.995
4:69599350:A:G	W254R	0.995
4:69599350:A:T	W254R	0.995
4:69647552:A:C	S31R	0.994
4:69647552:A:T	S31R	0.994
4:69647554:T:G	S31R	0.994
4:69594594:T:A	D396V	0.993
4:69594653:A:C	N376K	0.993
4:69594653:A:T	N376K	0.993
4:69595175:C:A	Q357H	0.993
4:69595175:C:G	Q357H	0.993
4:69594594:T:G	D396A	0.992
4:69594599:A:C	F394L	0.992
4:69594599:A:T	F394L	0.992
4:69594601:A:G	F394L	0.992
4:69594663:C:T	G373D	0.992
4:69595167:A:G	L360P	0.992
4:69594594:T:C	D396G	0.991
4:69589584:C:G	A458P	0.990
4:69594590:C:A	Q397H	0.990
4:69594590:C:G	Q397H	0.990
4:69594642:T:A	E380V	0.990
4:69594652:C:A	G377W	0.990
4:69595184:C:A	W354C	0.990
4:69595184:C:G	W354C	0.990

dbSNP variants (sampled 300 via entrez): RS1000026410 (4:69632248 A>G), RS10000435 (4:69650953 C>T), RS1000083863 (4:69626495 A>G), RS1000096026 (4:69588393 A>G), RS1000189691 (4:69611839 A>G), RS10001991 (4:69626252 C>T), RS1000345511 (4:69648018 G>A,T), RS1000377774 (4:69631900 A>G), RS1000413399 (4:69653922 A>C), RS10004306 (4:69604190 G>A,C), RS1000467860 (4:69588129 G>A), RS1000491514 (4:69611943 G>T), RS10005934 (4:69627949 C>A,G,T), RS10006049 (4:69628108 C>A,T), RS1000639238 (4:69620706 G>A)

Disease associations

OMIM: gene MIM:604716 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007272_42	Pulse pressure	3.000000e-56

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1743321 (SINGLE PROTEIN), CHEMBL4523985 (PROTEIN FAMILY)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs11249454	Toxicity	3	imatinib	Gastrointestinal Stromal Tumors

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11249454	UGT2A1, UGT2A2	3	1.50	1	imatinib

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases glucuronidation	2
bisphenol F	increases glucuronidation	1
bisphenol A	increases glucuronidation	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	increases abundance, affects methylation	1
benzo(a)pyrene 7,8-dihydrodiol	increases glucuronidation	1
1,2-dihydro-1,2-dihydroxy-5-methylchrysene	increases glucuronidation	1
3-hydroxybenzo(a)pyrene	increases glucuronidation	1
1-naphthol	increases glucuronidation	1
1-hydroxybenzo(a)pyrene	increases glucuronidation	1
1-hydroxypyrene	increases glucuronidation	1
dibenzo(a,l)pyrene 11,12-dihydrodiol	increases glucuronidation	1
bisphenol S	increases glucuronidation	1
bisphenol AF	increases glucuronidation	1
Air Pollutants	increases abundance, increases expression	1
Cannabinoids	affects methylation, increases abundance	1
Gold	decreases expression	1
Hymecromone	increases glucuronidation	1
Indomethacin	increases glucuronidation	1
Polycyclic Aromatic Hydrocarbons	affects response to substance	1
Smoke	increases abundance, increases expression	1
Valproic Acid	decreases methylation	1
Isotretinoin	decreases expression	1

ChEMBL screening assays

50 unique, capped per target: 50 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1743332	ADMET	Substrate of human UDP-glucuronosyltransferase UGT2A1	Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition

Clinical trials (associated diseases)

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