UGT3A1

Summary

UGT3A1 (UDP glycosyltransferase family 3 member A1, HGNC:26625) is a protein-coding gene on chromosome 5p13.2, encoding UDP-glucuronosyltransferase 3A1 (Q6NUS8). 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. Part of UDP-N-acetylglucosamine transferase complex.

Source: NCBI Gene 133688 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 86 total
• MANE Select transcript: NM_152404

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26625
Approved symbol	UGT3A1
Name	UDP glycosyltransferase family 3 member A1
Location	5p13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34658
Ensembl gene	ENSG00000145626
Ensembl biotype	protein_coding
OMIM	616383
Entrez	133688

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000274278, ENST00000333811, ENST00000503189, ENST00000507113, ENST00000513233, ENST00000515801, ENST00000625798, ENST00000876682, ENST00000876683

RefSeq mRNA: 2 — MANE Select: NM_152404 NM_001171873, NM_152404

CCDS: CCDS3913, CCDS54841

Canonical transcript exons

ENST00000274278 — 7 exons

Exon	Start	End
ENSE00001665965	35955645	35955864
ENSE00002078175	35991147	35991390
ENSE00002084855	35951006	35954478
ENSE00003470171	35965386	35965917
ENSE00003590076	35988450	35988551
ENSE00003593478	35957188	35957419
ENSE00003693376	35968019	35968133

Expression profiles

Bgee: expression breadth broad, 68 present calls, max score 98.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6222 / max 72.0917, expressed in 135 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61294	0.2088	77
61295	0.1577	65
61293	0.1274	41
61292	0.0375	17
61291	0.0370	19
61296	0.0261	14
61297	0.0146	3
61290	0.0132	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	98.68	gold quality
renal medulla	UBERON:0000362	91.48	gold quality
adult mammalian kidney	UBERON:0000082	88.19	gold quality
kidney	UBERON:0002113	87.61	gold quality
adult organism	UBERON:0007023	87.60	gold quality
liver	UBERON:0002107	87.26	gold quality
sperm	CL:0000019	85.38	gold quality
tibialis anterior	UBERON:0001385	85.33	gold quality
right lobe of liver	UBERON:0001114	83.54	gold quality
deltoid	UBERON:0001476	83.42	silver quality
jejunal mucosa	UBERON:0000399	81.79	gold quality
vastus lateralis	UBERON:0001379	80.00	silver quality
quadriceps femoris	UBERON:0001377	79.82	silver quality
duodenum	UBERON:0002114	79.46	gold quality
biceps brachii	UBERON:0001507	78.82	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	78.06	gold quality
cortex of kidney	UBERON:0001225	77.58	gold quality
skeletal muscle tissue	UBERON:0001134	77.53	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	76.27	gold quality
metanephros cortex	UBERON:0010533	76.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.43	gold quality
jejunum	UBERON:0002115	74.93	gold quality
metanephros	UBERON:0000081	74.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.66	gold quality
right testis	UBERON:0004534	72.08	gold quality
gastrocnemius	UBERON:0001388	72.02	gold quality
left testis	UBERON:0004533	71.91	gold quality
muscle of leg	UBERON:0001383	71.80	gold quality
ileal mucosa	UBERON:0000331	71.53	gold quality
testis	UBERON:0000473	70.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	31.34
E-ANND-3	yes	6.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting UGT3A1, 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-6876-5P	100.00	67.68	2126
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-6077	99.99	68.04	2299
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-664B-3P	99.84	71.65	3590

Literature-anchored findings (GeneRIF, showing 4)

• UDP glycosyltransferase 3A1 is a UDP N-acetylglucosaminyltransferase (PMID:18981171)
• UGT3A1 is involved in drug metabolism and uses UDP N-acetylglucosamine as a sugar donor (PMID:19814657)
• An asparagine (Asn-391) in the UGT signature sequence of UGT3A1 is necessary for utilization of UDP-GlcNAc. (PMID:22621930)
• UDP-Glycosyltransferase 3A Metabolism of Polycyclic Aromatic Hydrocarbons: Potential Importance in Aerodigestive Tract Tissues. (PMID:31836608)

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	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
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), 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 3A1 — Q6NUS8 (reviewed: Q6NUS8)

All UniProt accessions (5): A8K444, B7Z8Q8, D6RHV6, E9PD17, Q6NUS8

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.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NUS8-1	1	yes
Q6NUS8-2	2

RefSeq proteins (2): NP_001165344, NP_689617* (*=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 (14 total): sequence conflict 4, splice variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NUS8-F1	91.48	0.77

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): 52

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, RIGGI_EWING_SARCOMA_PROGENITOR_UP, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_TRANSFERASE_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, REACTOME_GLUCURONIDATION, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_GLUCURONOSYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, REACTOME_PHASE_II_CONJUGATION_OF_COMPOUNDS, MIR6867_5P, MIR548AR_3P

GO Biological Process (0):

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

GO Cellular Component (2): UDP-N-acetylglucosamine transferase complex (GO:0043541), 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
glycosyltransferase activity	1
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
catalytic activity	1
transferase activity	1
endoplasmic reticulum membrane	1
transferase complex, transferring phosphorus-containing groups	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

832 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UGT3A1	SLC35A2	P78381	973
UGT3A1	SULT1C4	O75897	511
UGT3A1	NR1I2	O75469	475
UGT3A1	SULT1E1	P49888	460
UGT3A1	CYP3A5	P20815	427
UGT3A1	CYP1A2	P05177	427
UGT3A1	NAT2	P11245	426
UGT3A1	ABCB1	P08183	412
UGT3A1	B3GAT2	Q9NPZ5	391
UGT3A1	ABCC1	P33527	391
UGT3A1	GCK	P35557	385
UGT3A1	GGPS1	O95749	379
UGT3A1	IGFBP1	P08833	374
UGT3A1	PPIG	Q13427	371
UGT3A1	LGALS4	P56470	371
UGT3A1	KEAP1	Q14145	371

IntAct

3 interactions, top by confidence:

A	B	Type	Score
UGT3A1	RPS4Y1	psi-mi:“MI:0915”(physical association)	0.400
UGT3A1	APLP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): CDCA5 (Affinity Capture-MS), CD320 (Affinity Capture-MS), APLP2 (Affinity Capture-MS), RPS4Y1 (Affinity Capture-MS), UGT3A1 (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: A0A067YB04, A0A0A1H7N4, A0A0A1HA03, A0A0A6ZFR4, A0A0B6VIJ5, A0A0C1EH92, A0A0D5ZDC8, A0A172J2D0, A0A193AU77, A0A193AUF6, A0A364KRL8, A0A478EC03, A0AAW1M2U7, A6BM07, A7MAS5, B2XBQ5, B3TKC8, D3UAG3, D3UAG4, D3UAG5, D3UAG6, D3UAG7, F8WKW0, F8WKW1, F8WLS6, G3FIN8, G3FIN9, K4CWS6, K4D422, K7NBW3, M0Y4P1, O22182, O22183, O22820, O22822, O23401, O23402, O23406, O34539, O48676

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	74
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1264 predictions. Top by Δscore:

Variant	Effect	Δscore
5:35954476:TACCT:T	acceptor_loss	1.0000
5:35954477:ACC:A	acceptor_loss	1.0000
5:35954478:CCTGT:C	acceptor_loss	1.0000
5:35954479:C:G	acceptor_loss	1.0000
5:35954480:T:C	acceptor_loss	1.0000
5:35957331:T:TA	donor_gain	1.0000
5:35954324:A:AC	donor_gain	0.9900
5:35954325:C:CC	donor_gain	0.9900
5:35954325:CTG:C	donor_gain	0.9900
5:35954331:ATG:A	donor_gain	0.9900
5:35955736:C:CT	donor_gain	0.9900
5:35955737:T:TT	donor_gain	0.9900
5:35955741:CGG:C	donor_gain	0.9900
5:35955861:TGAG:T	acceptor_gain	0.9900
5:35955863:AGCT:A	acceptor_loss	0.9900
5:35955864:GCT:G	acceptor_loss	0.9900
5:35955865:C:CA	acceptor_loss	0.9900
5:35955865:C:CC	acceptor_gain	0.9900
5:35955866:T:C	acceptor_loss	0.9900
5:35957183:CTT:C	donor_loss	0.9900
5:35957184:TTACC:T	donor_loss	0.9900
5:35957186:A:AC	donor_gain	0.9900
5:35957186:A:AG	donor_loss	0.9900
5:35957186:AC:A	donor_gain	0.9900
5:35957187:C:CC	donor_gain	0.9900
5:35957187:CC:C	donor_gain	0.9900
5:35988445:GATAC:G	donor_loss	0.9900
5:35988446:ATACC:A	donor_loss	0.9900
5:35988447:TACC:T	donor_loss	0.9900
5:35988449:C:CT	donor_loss	0.9900

AlphaMissense

3469 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:35957378:A:C	F295L	0.984
5:35957378:A:T	F295L	0.984
5:35957380:A:G	F295L	0.984
5:35955808:C:G	A378P	0.981
5:35988509:A:G	L46P	0.981
5:35955840:A:T	V367D	0.980
5:35965620:A:C	N203K	0.979
5:35965620:A:T	N203K	0.979
5:35991164:A:G	L26P	0.978
5:35955818:G:C	S374R	0.975
5:35955818:G:T	S374R	0.975
5:35955820:T:G	S374R	0.975
5:35957376:A:T	V296D	0.971
5:35965630:C:G	R200P	0.971
5:35965866:A:C	C121W	0.971
5:35957280:A:T	I328K	0.970
5:35988479:A:G	L56P	0.969
5:35988544:G:C	S34R	0.969
5:35988544:G:T	S34R	0.969
5:35988546:T:G	S34R	0.969
5:35957193:A:G	L357P	0.968
5:35957278:A:G	W329R	0.967
5:35957278:A:T	W329R	0.967
5:35965807:A:G	L141P	0.966
5:35954410:A:G	L455P	0.965
5:35965458:A:C	F257L	0.964
5:35965458:A:T	F257L	0.964
5:35965460:A:G	F257L	0.964
5:35965741:A:T	V163E	0.964
5:35965868:A:G	C121R	0.963

dbSNP variants (sampled 300 via entrez): RS1000064866 (5:35982298 G>T), RS1000084317 (5:35988566 C>T), RS1000115241 (5:35978192 G>A,T), RS1000174482 (5:35976410 T>A,C), RS1000274923 (5:35953758 C>T), RS1000284640 (5:35982470 C>T), RS1000332393 (5:35970452 G>A), RS1000385676 (5:35953313 T>C), RS1000536821 (5:35963928 A>T), RS1000539442 (5:35988873 G>A), RS1000605325 (5:35983046 T>C), RS1000611733 (5:35959592 A>G), RS1000760213 (5:35988740 C>T), RS1000825276 (5:35957493 C>A,G,T), RS1000869644 (5:35963423 T>A)

Disease associations

OMIM: gene MIM:616383 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST003129_22	Primary biliary cholangitis	5.000000e-11
GCST005581_3	Primary biliary cirrhosis	2.000000e-13
GCST006249_76	Serum metabolite levels	2.000000e-12
GCST007563_11	Allergic disease (asthma, hay fever or eczema)	3.000000e-15
GCST007564_36	Asthma or allergic disease (pleiotropy)	2.000000e-14
GCST008916_32	Asthma	1.000000e-10
GCST009733_168	Urinary metabolite levels in chronic kidney disease	5.000000e-37
GCST009733_67	Urinary metabolite levels in chronic kidney disease	1.000000e-70
GCST012020_101	Serum metabolite levels	5.000000e-23
GCST012020_102	Serum metabolite levels	1.000000e-17
GCST012020_300	Serum metabolite levels	4.000000e-19
GCST90020091_4	Estradiol levels	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement
EFO:0004697	estradiol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, affects cotreatment	8
belinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Cyclosporine	decreases expression	2
methylmercuric chloride	decreases expression	1
senkirkine	decreases expression	1
heliotrine	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Fulvestrant	increases methylation	1
Vorinostat	decreases expression	1
Panobinostat	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	decreases expression	1
Indomethacin	decreases expression	1
Pyrrolizidine Alkaloids	decreases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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