UGGT2

Summary

UGGT2 (UDP-glucose glycoprotein glucosyltransferase 2, HGNC:15664) is a protein-coding gene on chromosome 13q32.1, encoding UDP-glucose:glycoprotein glucosyltransferase 2 (Q9NYU1). Recognizes glycoproteins with minor folding defects.

UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.

Source: NCBI Gene 55757 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 254 total
• MANE Select transcript: NM_020121

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15664
Approved symbol	UGGT2
Name	UDP-glucose glycoprotein glucosyltransferase 2
Location	13q32.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360
Ensembl gene	ENSG00000102595
Ensembl biotype	protein_coding
OMIM	605898
Entrez	55757

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 15 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000376712, ENST00000376714, ENST00000376747, ENST00000397618, ENST00000461329, ENST00000462472, ENST00000463054, ENST00000465196, ENST00000467305, ENST00000476866, ENST00000491509, ENST00000940277, ENST00000940278, ENST00000940279, ENST00000940280, ENST00000943423, ENST00000943424, ENST00000943425, ENST00000943426, ENST00000943427, ENST00000943428, ENST00000943429

RefSeq mRNA: 1 — MANE Select: NM_020121 NM_020121

CCDS: CCDS9480

Canonical transcript exons

ENST00000376747 — 39 exons

Exon	Start	End
ENSE00000853821	95895180	95895304
ENSE00000853823	95902854	95903060
ENSE00000853833	96023040	96023152
ENSE00000853836	96013307	96013481
ENSE00000916964	95900807	95900938
ENSE00000916969	95927028	95927126
ENSE00000916973	95939957	95940091
ENSE00000916975	95947037	95947172
ENSE00000916977	95949335	95949454
ENSE00000916979	95970112	95970262
ENSE00000916982	95972580	95972671
ENSE00001144311	95925680	95925774
ENSE00001593607	95859591	95859675
ENSE00001594406	95801580	95801812
ENSE00001596588	95837086	95837202
ENSE00001611631	95832927	95833053
ENSE00001634669	96031889	96031971
ENSE00001642900	95853543	95853657
ENSE00001653614	95854315	95854475
ENSE00001719477	95863629	95863714
ENSE00001727055	95860788	95860883
ENSE00001791196	96023629	96023759
ENSE00002301470	96053155	96053401
ENSE00003465343	95877279	95877364
ENSE00003511766	95927213	95927336
ENSE00003518681	95877698	95877856
ENSE00003544026	95947996	95948081
ENSE00003578180	95890862	95890964
ENSE00003583366	95867339	95867423
ENSE00003594915	95989973	95990073
ENSE00003603252	95986333	95986432
ENSE00003603334	95856158	95856340
ENSE00003606426	95887892	95887971
ENSE00003632473	95894562	95894657
ENSE00003644656	95884491	95884680
ENSE00003664403	95999211	95999307
ENSE00003678302	95936924	95937088
ENSE00003684355	95996063	95996135
ENSE00003690999	95983804	95983864

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 98.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.3748 / max 215.4177, expressed in 1752 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137898	23.6593	1752
137897	0.5547	319
137899	0.1607	90

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.20	gold quality
tibial artery	UBERON:0007610	93.14	gold quality
popliteal artery	UBERON:0002250	93.13	gold quality
aorta	UBERON:0000947	92.09	gold quality
adrenal tissue	UBERON:0018303	92.07	gold quality
tendon	UBERON:0000043	91.88	gold quality
tibial nerve	UBERON:0001323	91.39	gold quality
thoracic aorta	UBERON:0001515	90.95	gold quality
ascending aorta	UBERON:0001496	90.92	gold quality
descending thoracic aorta	UBERON:0002345	90.75	gold quality
left coronary artery	UBERON:0001626	90.46	gold quality
tibia	UBERON:0000979	90.04	gold quality
stromal cell of endometrium	CL:0002255	90.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.97	gold quality
mucosa of stomach	UBERON:0001199	89.78	gold quality
adenohypophysis	UBERON:0002196	89.69	gold quality
ventricular zone	UBERON:0003053	89.65	gold quality
coronary artery	UBERON:0001621	89.51	gold quality
body of uterus	UBERON:0009853	89.23	gold quality
right coronary artery	UBERON:0001625	89.10	gold quality
body of pancreas	UBERON:0001150	88.93	gold quality
corpus callosum	UBERON:0002336	88.89	gold quality
subcutaneous adipose tissue	UBERON:0002190	88.22	gold quality
left lobe of thyroid gland	UBERON:0001120	88.21	gold quality
cartilage tissue	UBERON:0002418	88.09	gold quality
pituitary gland	UBERON:0000007	87.96	gold quality
metanephros cortex	UBERON:0010533	87.82	gold quality
corpus epididymis	UBERON:0004359	87.79	gold quality
thyroid gland	UBERON:0002046	87.73	gold quality
endocervix	UBERON:0000458	87.65	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting UGGT2, 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-5692A	100.00	74.40	6850
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-320A-5P	98.88	66.75	1248
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-617	96.79	65.96	738

Literature-anchored findings (GeneRIF, showing 4)

• HUGT2 cannot activate the catalytic domain of UDP-glucose: glycoprotein glucosyltransferase I (PMID:12913004)
• The glucosyltransferase activity of UGGT2 has been lacking, leaving it unclear as to whether it has any function in the glycoprotein folding process. (PMID:24415556)
• In this study, we aimed to clarify the contribution of the noncatalytic domains by comparing activities of truncated forms of recombinant HUGT1/HUGT2 and HUGT1/HUGT2 chimeras with full-length enzymes. (PMID:27496766)
• Quantitative glycoproteomics reveals cellular substrate selectivity of the ER protein quality control sensors UGGT1 and UGGT2. (PMID:33320095)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	uggt2	ENSDARG00000062089
mus_musculus	Uggt2	ENSMUSG00000042104
rattus_norvegicus	Uggt2	ENSRNOG00000058057
drosophila_melanogaster	Uggt	FBGN0014075
caenorhabditis_elegans	uggt-2	WBGENE00009178
caenorhabditis_elegans		WBGENE00018604

Paralogs (1): UGGT1 (ENSG00000136731)

Protein

Protein identifiers

UDP-glucose:glycoprotein glucosyltransferase 2 — Q9NYU1 (reviewed: Q9NYU1)

Alternative names: UDP–Glc:glycoprotein glucosyltransferase 2, UDP-glucose ceramide glucosyltransferase-like 1

All UniProt accessions (3): Q9NYU1, A6NP03, E7EMU6

UniProt curated annotations — full annotation on UniProt →

Function. Recognizes glycoproteins with minor folding defects. Reglucosylates single N-glycans near the misfolded part of the protein, thus providing quality control for protein folding in the endoplasmic reticulum. Reglucosylated proteins are recognized by calreticulin for recycling to the endoplasmic reticulum and refolding or degradation.

Subunit / interactions. Interacts with METTL23. Interacts with SELENOF.

Subcellular location. Endoplasmic reticulum lumen. Endoplasmic reticulum-Golgi intermediate compartment.

Tissue specificity. Higher levels in kidney, pancreas, heart, and skeletal muscle.

Activity regulation. Ethylenediaminetetraacetic acid completely abolishes catalytic activity. Catalytic activity is enhanced by complex formation with SELENOF.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 8 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NYU1-1	1	yes
Q9NYU1-2	2

RefSeq proteins (1): NP_064506* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009448	UDP-g_GGtrans	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR040497	Glyco_transf_24	Domain
IPR040525	UGGT_TRXL_4	Domain
IPR040692	UGGT_TRXL_3	Domain
IPR040693	UGGT_TRXL_1	Domain
IPR040694	UGGT_TRXL_2	Domain

Pfam: PF06427, PF18400, PF18401, PF18402, PF18403, PF18404

Catalyzed reactions (Rhea), 1 shown:

• N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) + UDP-alpha-D-glucose = N(4)-(alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] + UDP + H(+) (RHEA:61304)

UniProt features (20 total): sequence variant 8, glycosylation site 4, splice variant 2, signal peptide 1, chain 1, mutagenesis site 1, region of interest 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NYU1-F1	85.83	0.51

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): 1289

Glycosylation sites (4): 256, 286, 920, 950

Mutagenesis-validated functional residues (1):

Position	Phenotype
1333	loss of catalytic activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-901032	ER Quality Control Compartment (ERQC)

MSigDB gene sets: 117 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GGAMTNNNNNTCCY_UNKNOWN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, ONKEN_UVEAL_MELANOMA_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_DEGLYCOSYLATION, APPIERTO_RESPONSE_TO_FENRETINIDE_DN, MODULE_284

GO Biological Process (4): obsolete protein N-linked glycosylation via asparagine (GO:0018279), endoplasmic reticulum mannose trimming (GO:1904380), obsolete protein glycosylation (GO:0006486), UDP-glucosylation (GO:0097359)

GO Molecular Function (5): UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), protein-containing complex (GO:0032991), endoplasmic reticulum quality control compartment (GO:0044322)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Calnexin/calreticulin cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
intracellular membrane-bounded organelle	2
endoplasmic reticulum	2
protein alpha-1,2-demannosylation	1
endoplasmic reticulum quality control compartment	1
UDP-alpha-D-glucose metabolic process	1
UDP-glucosyltransferase activity	1
UDP-glucosylation	1
binding	1
catalytic activity	1
transferase activity	1
endomembrane system	1
intracellular organelle lumen	1
cellular_component	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1136 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UGGT2	SELENOF	O60613	948
UGGT2	CANX	P27824	849
UGGT2	SLC35A2	P78381	816
UGGT2	OS9	Q13438	793
UGGT2	CALR	P27797	788
UGGT2	MOGS	Q13724	768
UGGT2	ERLEC1	Q96DZ1	681
UGGT2	TAPBPL	Q9BX59	639
UGGT2	EDEM1	Q92611	626
UGGT2	EDEM2	Q9BV94	607
UGGT2	MAN1B1	Q9UKM7	606
UGGT2	HSP90B1	P14625	599
UGGT2	PDIA4	P13667	580
UGGT2	FOXRED2	Q8IWF2	569
UGGT2	GANAB	Q14697	561

IntAct

90 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
SCGB1D1	MANBA	psi-mi:“MI:0914”(association)	0.640
APPBP2	UGGT2	psi-mi:“MI:0915”(physical association)	0.560
	UGGT2	psi-mi:“MI:0915”(physical association)	0.560
	PLOD2	psi-mi:“MI:0914”(association)	0.530
POGLUT1	CLGN	psi-mi:“MI:0914”(association)	0.530
ADAMTS4	MANBA	psi-mi:“MI:0914”(association)	0.530
C1orf54	EXTL3	psi-mi:“MI:0914”(association)	0.530
CMA1	MANBA	psi-mi:“MI:0914”(association)	0.530
CRP	QSOX1	psi-mi:“MI:0914”(association)	0.530
DNAJC3	DEDD	psi-mi:“MI:0914”(association)	0.530
GPIHBP1	ADAM10	psi-mi:“MI:0914”(association)	0.530
PIGT	ZNF609	psi-mi:“MI:0914”(association)	0.530
UGGT2	HSPA5	psi-mi:“MI:0915”(physical association)	0.500
UGGT2	UGGT1	psi-mi:“MI:0915”(physical association)	0.400
SORT1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
	VWA8	psi-mi:“MI:0914”(association)	0.350
ORF47	ZZEF1	psi-mi:“MI:0914”(association)	0.350
UGGT2	ITIH2	psi-mi:“MI:0914”(association)	0.350
BABAM2	RPN2	psi-mi:“MI:0914”(association)	0.350
BABAM1	PYCR3	psi-mi:“MI:0914”(association)	0.350
	TOR1B	psi-mi:“MI:0914”(association)	0.350
	PLOD2	psi-mi:“MI:0914”(association)	0.350
ERN2	SEC16A	psi-mi:“MI:0914”(association)	0.350
IGF1R	HAX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (112): UGGT2 (Two-hybrid), UGGT2 (Proximity Label-MS), UGGT2 (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), ITIH2 (Affinity Capture-MS), UGGT2 (Affinity Capture-MS), UGGT2 (Affinity Capture-MS), UGGT2 (Affinity Capture-MS), UGGT2 (Affinity Capture-MS), UGGT2 (Proximity Label-MS), UGGT2 (Affinity Capture-MS), UGGT1 (Proximity Label-MS), UGGT2 (Proximity Label-MS), UGGT2 (Affinity Capture-MS), UGGT2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5AG16, A5JYX8, A8WN14, A8XAA9, B3LYC0, B3P2S2, B4GEL3, F4JIN3, G5ED46, I1R9A6, M2YJJ3, O17861, O44342, O64758, P22023, P34466, P45434, P45895, P46555, Q09140, Q09332, Q09417, Q0WL80, Q0WT48, Q10MW6, Q17750, Q1ZXS5, Q2TXF0, Q5AV00, Q5FVM7, Q5N7W3, Q6NRQ2, Q6NUA7, Q6P5E4, Q7XVN7, Q8L7E3, Q8T7E0, Q8TGA2, Q8W4J3, Q93Z16

Diamond homologs: P22023, Q09332, Q0WL80, Q9NYU1, Q09140, Q6P5E4, Q8T191, Q9JLA3, Q9NYU2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SELENOF	“up-regulates activity”	UGGT2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 118 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Maturation of DENV proteins	5	12.4×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	193
Likely benign	19
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

7663 predictions. Top by Δscore:

Variant	Effect	Δscore
13:95832925:A:AC	donor_gain	1.0000
13:95832926:C:CC	donor_gain	1.0000
13:95833054:C:CC	acceptor_gain	1.0000
13:95854309:TCTTA:T	donor_loss	1.0000
13:95854310:CTTAC:C	donor_loss	1.0000
13:95854311:TTA:T	donor_loss	1.0000
13:95854312:TACC:T	donor_loss	1.0000
13:95854313:A:T	donor_loss	1.0000
13:95854472:CAAT:C	acceptor_gain	1.0000
13:95854475:TC:T	acceptor_loss	1.0000
13:95854476:C:CC	acceptor_gain	1.0000
13:95859589:A:AC	donor_gain	1.0000
13:95859590:C:CT	donor_gain	1.0000
13:95860885:T:C	acceptor_gain	1.0000
13:95860885:T:TC	acceptor_gain	1.0000
13:95863624:ATTAC:A	donor_loss	1.0000
13:95863625:TTA:T	donor_loss	1.0000
13:95863626:TAC:T	donor_loss	1.0000
13:95863627:ACCTT:A	donor_loss	1.0000
13:95863628:C:G	donor_loss	1.0000
13:95867337:A:AC	donor_gain	1.0000
13:95867338:C:CC	donor_gain	1.0000
13:95867343:A:AC	donor_gain	1.0000
13:95867344:C:CC	donor_gain	1.0000
13:95877692:ACTT:A	donor_loss	1.0000
13:95877693:CT:C	donor_loss	1.0000
13:95877694:TT:T	donor_loss	1.0000
13:95877695:TACAT:T	donor_loss	1.0000
13:95877696:A:AC	donor_gain	1.0000
13:95877696:ACA:A	donor_loss	1.0000

AlphaMissense

10144 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:95999261:A:G	L236P	0.990
13:95832993:A:G	W1488R	0.989
13:95832993:A:T	W1488R	0.989
13:95837148:A:G	W1447R	0.989
13:95837148:A:T	W1447R	0.989
13:95986418:C:G	A316P	0.989
13:96053186:A:G	W43R	0.989
13:96053186:A:T	W43R	0.989
13:95853657:A:C	S1390R	0.988
13:95853657:A:T	S1390R	0.988
13:95854316:T:G	S1390R	0.988
13:96013320:C:G	R216P	0.988
13:95859628:A:G	F1263S	0.987
13:95856225:T:A	K1314I	0.985
13:95854450:A:T	L1345H	0.984
13:95859626:A:G	W1264R	0.984
13:95859626:A:T	W1264R	0.984
13:95837146:C:A	W1447C	0.983
13:95837146:C:G	W1447C	0.983
13:95854365:C:A	W1373C	0.983
13:95854365:C:G	W1373C	0.983
13:95925745:A:G	W744R	0.983
13:95925745:A:T	W744R	0.983
13:96053159:C:G	A52P	0.983
13:95854367:A:G	W1373R	0.982
13:95854367:A:T	W1373R	0.982
13:95854368:G:C	F1372L	0.982
13:95854368:G:T	F1372L	0.982
13:95854370:A:G	F1372L	0.982
13:96031971:A:C	S53R	0.982

dbSNP variants (sampled 300 via entrez): RS1000000375 (13:95882454 C>T), RS1000003110 (13:95975060 G>A), RS1000017560 (13:95886066 T>C,G), RS1000020529 (13:95951206 G>A), RS1000026315 (13:96009781 C>T), RS1000054776 (13:96010054 A>G,T), RS1000055419 (13:95802111 T>A,G), RS1000057664 (13:95831634 G>C), RS1000064139 (13:95958404 GC>G), RS1000072913 (13:95951454 A>G), RS1000077971 (13:95921193 G>A,C), RS1000086730 (13:95869969 T>C), RS1000104302 (13:95843113 T>C), RS1000108226 (13:95831339 C>A,T), RS1000129435 (13:95896478 GTTACA>G)

Disease associations

OMIM: gene MIM:605898 | 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
GCST005951_5	Body mass index	3.000000e-10
GCST007492_10	Waist-to-hip ratio adjusted for BMI (additive genetic model)	6.000000e-08
GCST007494_8	Waist-to-hip ratio adjusted for BMI (additive genetic model)	7.000000e-08
GCST012490_118	Femur bone mineral density x serum urate levels interaction	1.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs9590353	Efficacy	3	hydrochlorothiazide	Essential hypertension

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs9590353	UGGT2	3	0.00	1	hydrochlorothiazide

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	11
trichostatin A	affects cotreatment, increases expression	4
methylmercuric chloride	decreases expression	2
bisphenol A	decreases expression, affects methylation	2
sodium arsenite	decreases expression, increases expression	2
Tunicamycin	increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
tetrabromobisphenol A	decreases expression	1
nickel sulfate	decreases expression	1
coumarin	increases phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	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
ICG 001	increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Irinotecan	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Gemcitabine	increases expression	1

Clinical trials (associated diseases)

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