UGT2A3

Summary

UGT2A3 (UDP glucuronosyltransferase family 2 member A3, HGNC:28528) is a protein-coding gene on chromosome 4q13.2, encoding UDP-glucuronosyltransferase 2A3 (Q6UWM9). UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion.

Enables glucuronosyltransferase activity. Involved in xenobiotic metabolic process. Predicted to be located in membrane.

Source: NCBI Gene 79799 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 67 total
• Druggable target: yes
• MANE Select transcript: NM_024743

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28528
Approved symbol	UGT2A3
Name	UDP glucuronosyltransferase family 2 member A3
Location	4q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21934
Ensembl gene	ENSG00000135220
Ensembl biotype	protein_coding
OMIM	616382
Entrez	79799

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000251566, ENST00000503012, ENST00000852414, ENST00000852415

RefSeq mRNA: 1 — MANE Select: NM_024743 NM_024743

CCDS: CCDS3525

Canonical transcript exons

ENST00000251566 — 6 exons

Exon	Start	End
ENSE00001012694	68951046	68951804
ENSE00001012696	68928463	68930092
ENSE00003480803	68932628	68932759
ENSE00003498076	68945306	68945454
ENSE00003535113	68931155	68931242
ENSE00003636431	68930546	68930765

Expression profiles

Bgee: expression breadth broad, 49 present calls, max score 98.71.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5946 / max 694.0829, expressed in 41 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52349	1.5172	40
52347	0.0724	20
52348	0.0049	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	98.71	gold quality
gall bladder	UBERON:0002110	95.73	gold quality
rectum	UBERON:0001052	94.05	gold quality
mucosa of transverse colon	UBERON:0004991	91.37	gold quality
body of pancreas	UBERON:0001150	88.96	gold quality
adult mammalian kidney	UBERON:0000082	88.89	gold quality
pancreas	UBERON:0001264	87.99	gold quality
islet of Langerhans	UBERON:0000006	87.46	gold quality
kidney	UBERON:0002113	85.44	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.72	gold quality
small intestine	UBERON:0002108	84.49	gold quality
liver	UBERON:0002107	83.85	gold quality
right lobe of liver	UBERON:0001114	82.24	gold quality
transverse colon	UBERON:0001157	81.36	gold quality
metanephros cortex	UBERON:0010533	80.83	gold quality
cortex of kidney	UBERON:0001225	76.20	gold quality
colonic epithelium	UBERON:0000397	72.88	gold quality
intestine	UBERON:0000160	71.28	gold quality
vermiform appendix	UBERON:0001154	70.36	gold quality
colon	UBERON:0001155	65.41	gold quality
smooth muscle tissue	UBERON:0001135	53.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	52.13	silver quality
fundus of stomach	UBERON:0001160	49.30	gold quality
stomach	UBERON:0000945	49.00	gold quality
body of stomach	UBERON:0001161	46.16	gold quality
muscle layer of sigmoid colon	UBERON:0035805	41.95	gold quality
urinary bladder	UBERON:0001255	40.06	gold quality
lymph node	UBERON:0000029	39.07	gold quality
adrenal tissue	UBERON:0018303	38.64	silver quality
bone marrow cell	CL:0002092	38.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting UGT2A3, 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-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-1252-3P	99.55	67.71	2862

Literature-anchored findings (GeneRIF, showing 3)

• Describes initial cloning, expression and functional characterization of UGT2A3. Shows mRNA expression primarily in liver and intestines; and selective glucuronidation of bile acids, particularly hyodeoxycholic acid. (PMID:18523138)
• This is the first report establishing UGT2A3 as a functional enzyme. (PMID:18523138)
• 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)

Cross-species orthologs

109 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	si:ch73-334d15.1	ENSDARG00000061672
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	Ugt2a3	ENSMUSG00000035780
rattus_norvegicus	Ugt2a3	ENSRNOG00000001973
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), 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 2A3 — Q6UWM9 (reviewed: Q6UWM9)

All UniProt accessions (2): D6RBL8, Q6UWM9

UniProt curated annotations — full annotation on UniProt →

Function. UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds.

Subcellular location. Membrane.

Similarity. Belongs to the UDP-glycosyltransferase family.

RefSeq proteins (1): NP_079019* (*=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

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.

Substrate	Km (mM)	Measurements
4-METHYLUMBELLIFERONE	0.0001–4.204	44
MORPHINE	0.0355–37.4	31
4-NITROPHENOL	0.0102–2	24
PROPOFOL	0.0072–0.9	19
ZIDOVUDINE	0.508–1.54	19
1-NAPHTHOL	0.0025–27	18
IMIPRAMINE	0.0072–1.442	13
TRANS-4-HYDROXYTAMOXIFEN	0.0037–0.319	13
SCOPOLETIN	0.061–7.64	11
SEROTONIN	3.7–55.9	11
2-HYDROXYESTRONE	0.0102–6	10
CIS-4-HYDROXYTAMOXIFEN	0.0074–0.193	10
DOPAMINE	1.89–3.11	10
1-HYDROXYBENZO(A)PYRENE	0.0113–2.869	9
1-HYDROXYPYRENE	0.0032–2.326	9

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (7 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, glycosylation site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWM9-F1	92.16	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.

Glycosylation sites (1): 313

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 90 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, REACTOME_BIOLOGICAL_OXIDATIONS, HNF1_Q6, chr4q13, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, KEGG_STARCH_AND_SUCROSE_METABOLISM, KEGG_STEROID_HORMONE_BIOSYNTHESIS, HNF1_01, KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450, KEGG_DRUG_METABOLISM_OTHER_ENZYMES, REACTOME_GLUCURONIDATION, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_GLUCURONOSYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY

GO Biological Process (1): xenobiotic metabolic process (GO:0006805)

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

GO Cellular Component (1): 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
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
glycosyltransferase activity	1
catalytic activity	1
transferase activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1036 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UGT2A3	SLC35A2	P78381	883
UGT2A3	PPIG	Q13427	761
UGT2A3	CYP3A4	P05184	726
UGT2A3	SULT1B1	O43704	632
UGT2A3	SULT1C3	Q6IMI6	631
UGT2A3	CYP1A2	P05177	629
UGT2A3	CYP2C9	P11712	628
UGT2A3	SULT1C4	O75897	622
UGT2A3	CYP2C19	P33259	612
UGT2A3	CYP2D6	P10635	590
UGT2A3	CYP2B6	P20813	589
UGT2A3	SLCO1B1	Q9Y6L6	571
UGT2A3	CYP2C8	P10632	550
UGT2A3	FMO3	P31513	545
UGT2A3	CYP1A1	P04798	506

IntAct

4 interactions, top by confidence:

A	B	Type	Score
UGT2A3	UGT2A2	psi-mi:“MI:0914”(association)	0.530
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): UGT2A2 (Affinity Capture-MS), UGT2B15 (Affinity Capture-MS), HBA2 (Affinity Capture-MS), UGT2A3 (Affinity Capture-MS), UGT2A2 (Affinity Capture-MS), UGT2B15 (Affinity Capture-MS), UGT2A3 (Affinity Capture-MS), UGT2A3 (Cross-Linking-MS (XL-MS)), UGT2A3 (Cross-Linking-MS (XL-MS))

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

989 predictions. Top by Δscore:

Variant	Effect	Δscore
4:68930088:TATAA:T	acceptor_gain	1.0000
4:68930089:ATAA:A	acceptor_gain	1.0000
4:68930090:TAA:T	acceptor_gain	1.0000
4:68930091:AA:A	acceptor_gain	1.0000
4:68930091:AACTG:A	acceptor_loss	1.0000
4:68930093:C:CC	acceptor_gain	1.0000
4:68930093:CTGGA:C	acceptor_loss	1.0000
4:68930094:T:C	acceptor_loss	1.0000
4:68930544:A:AC	donor_gain	1.0000
4:68930545:C:CC	donor_gain	1.0000
4:68931149:ACCT:A	donor_loss	1.0000
4:68931150:CCTA:C	donor_loss	1.0000
4:68931151:CTAC:C	donor_loss	1.0000
4:68931153:A:AC	donor_gain	1.0000
4:68931153:A:AT	donor_loss	1.0000
4:68931154:C:CC	donor_gain	1.0000
4:68951048:AATG:A	donor_gain	1.0000
4:68930089:ATAAC:A	acceptor_gain	0.9900
4:68930090:TAACT:T	acceptor_gain	0.9900
4:68930091:AAC:A	acceptor_gain	0.9900
4:68930092:ACTGG:A	acceptor_gain	0.9900
4:68930093:C:A	acceptor_gain	0.9900
4:68930094:T:A	acceptor_gain	0.9900
4:68930538:GTACT:G	donor_loss	0.9900
4:68930539:TACTT:T	donor_loss	0.9900
4:68930540:ACTTA:A	donor_loss	0.9900
4:68930541:CTT:C	donor_loss	0.9900
4:68930542:TTAC:T	donor_loss	0.9900
4:68930543:T:TC	donor_loss	0.9900
4:68930545:CG:C	donor_gain	0.9900

AlphaMissense

3475 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:68931236:A:G	W335R	0.993
4:68931236:A:T	W335R	0.993
4:68930005:A:C	F464L	0.989
4:68930005:A:T	F464L	0.989
4:68930007:A:G	F464L	0.989
4:68931160:A:G	L360P	0.986
4:68931168:C:A	Q357H	0.986
4:68931168:C:G	Q357H	0.986
4:68930709:C:G	A381P	0.985
4:68951659:G:C	S34R	0.985
4:68951659:G:T	S34R	0.985
4:68951661:T:G	S34R	0.985
4:68951624:A:G	L46P	0.983
4:68951137:T:A	R208S	0.981
4:68951137:T:G	R208S	0.981
4:68930622:C:G	A410P	0.980
4:68932716:A:T	V303E	0.980
4:68930017:G:C	F460L	0.979
4:68930017:G:T	F460L	0.979
4:68930019:A:G	F460L	0.979
4:68930743:A:C	F369L	0.979
4:68930743:A:T	F369L	0.979
4:68930745:A:G	F369L	0.979
4:68951655:A:G	W36R	0.979
4:68951655:A:T	W36R	0.979
4:68929997:C:G	R467P	0.977
4:68951676:A:G	W29R	0.977
4:68951676:A:T	W29R	0.977
4:68932701:C:T	G308E	0.976
4:68951152:C:A	M203I	0.976

dbSNP variants (sampled 300 via entrez): RS10000598 (4:68945205 A>C,G,T), RS1000361683 (4:68931444 A>G), RS10006282 (4:68948823 C>A,G,T), RS1000692791 (4:68930395 T>C), RS1000856432 (4:68947652 A>G,T), RS1000924900 (4:68940439 A>G,T), RS1001061806 (4:68937737 C>A), RS10010699 (4:68945106 C>A,T), RS1001129318 (4:68937205 C>A,G), RS1001159343 (4:68945879 C>T), RS1001311146 (4:68932307 T>C), RS1001363116 (4:68932528 A>T), RS1001591037 (4:68942821 T>C), RS10018123 (4:68936064 G>A,C,T), RS1001940647 (4:68937474 T>C)

Disease associations

OMIM: gene MIM:616382 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005518_8	Premature menopause in childhood cancer survivors	6.000000e-06
GCST006479_6	Diverticular disease	6.000000e-06
GCST007684_1	Plasma clozapine-norclozapine ratio in treatment-resistant schizophrenia	9.000000e-66
GCST007684_3	Plasma clozapine-norclozapine ratio in treatment-resistant schizophrenia	4.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009959	diverticular disease
EFO:0600040	plasma clozapine-to-N-desmethylclozapine ratio measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523985 (PROTEIN FAMILY)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	3
Cyclosporine	decreases expression	3
Acetaminophen	affects cotreatment, decreases expression	2
Chenodeoxycholic Acid	affects cotreatment, decreases expression	2
dicrotophos	decreases expression	1
bisphenol A	affects expression	1
deoxynivalenol	decreases expression	1
senecionine	decreases expression	1
ascorbate-2-phosphate	affects binding, affects cotreatment, increases expression	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	affects cotreatment, decreases expression	1
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
Chir 99021	affects cotreatment, decreases expression, affects binding, increases expression	1
XAV939	increases expression, affects binding, affects cotreatment	1
LDN 193189	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
3-(4-pyridyl)-1H-indole	affects cotreatment, decreases expression	1
Ethanol	decreases expression	1
Arsenic	affects methylation	1
Ascorbic Acid	affects binding, affects cotreatment, increases expression	1
Biological Factors	decreases expression	1
Cisplatin	decreases expression	1
Deoxycholic Acid	affects cotreatment, decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, decreases expression	1
Glycocholic Acid	decreases expression, affects cotreatment	1
Glycodeoxycholic Acid	affects cotreatment, decreases expression	1
Hydrocortisone	affects cotreatment, decreases expression	1

ChEMBL screening assays

35 unique, capped per target: 35 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4339708	ADMET	Drug metabolism in human hepatocytes assessed as UGT-mediated glucuronidation by measuring O-glucuronide formation at 10 uM measured after 4 hrs by LC-MS analysis	Discovery of Imidazo[1,2-a]pyrazines and Pyrazolo[1,5-c]pyrimidines as TARP γ-8 Selective AMPAR Negative Modulators. — ACS Med Chem Lett

Clinical trials (associated diseases)

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