UGT3A2

Summary

UGT3A2 (UDP glycosyltransferase family 3 member A2, HGNC:27266) is a protein-coding gene on chromosome 5p13.2, encoding UDP-glucuronosyltransferase 3A2 (Q3SY77). UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion.

Enables UDP-glycosyltransferase activity. Acts upstream of or within cellular response to genistein. Predicted to be located in membrane. Predicted to be part of UDP-N-acetylglucosamine transferase complex.

Source: NCBI Gene 167127 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_174914

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27266
Approved symbol	UGT3A2
Name	UDP glycosyltransferase family 3 member A2
Location	5p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000168671
Ensembl biotype	protein_coding
OMIM	616384
Entrez	167127

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000282507, ENST00000504685, ENST00000504954, ENST00000513300, ENST00000515131, ENST00000926006, ENST00000926007, ENST00000926008

RefSeq mRNA: 2 — MANE Select: NM_174914 NM_001168316, NM_174914

CCDS: CCDS3914, CCDS54842

Canonical transcript exons

ENST00000282507 — 7 exons

Exon	Start	End
ENSE00001122183	36048889	36049420
ENSE00001305148	36035021	36035974
ENSE00003558123	36051870	36051984
ENSE00003574795	36064249	36064350
ENSE00003618618	36066696	36066882
ENSE00003675852	36037797	36038016
ENSE00003678886	36039477	36039708

Expression profiles

Bgee: expression breadth broad, 78 present calls, max score 92.51.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6753 / max 539.7610, expressed in 253 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61299	2.6753	253

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
thymus	UBERON:0002370	92.51	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.08	gold quality
quadriceps femoris	UBERON:0001377	86.14	gold quality
cerebellar vermis	UBERON:0004720	85.45	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.12	gold quality
skin of abdomen	UBERON:0001416	75.31	gold quality
zone of skin	UBERON:0000014	74.03	gold quality
skin of leg	UBERON:0001511	72.95	gold quality
bone marrow	UBERON:0002371	72.04	gold quality
bone marrow cell	CL:0002092	67.38	silver quality
adult mammalian kidney	UBERON:0000082	61.57	gold quality
kidney	UBERON:0002113	60.63	gold quality
cortex of kidney	UBERON:0001225	60.45	gold quality
testis	UBERON:0000473	60.09	gold quality
left testis	UBERON:0004533	59.69	gold quality
right testis	UBERON:0004534	59.04	gold quality
metanephros cortex	UBERON:0010533	56.38	gold quality
granulocyte	CL:0000094	52.64	gold quality
pituitary gland	UBERON:0000007	51.28	gold quality
placenta	UBERON:0001987	50.24	gold quality
spleen	UBERON:0002106	50.06	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	49.76	gold quality
duodenum	UBERON:0002114	49.21	gold quality
liver	UBERON:0002107	48.79	gold quality
sural nerve	UBERON:0015488	48.53	silver quality
adenohypophysis	UBERON:0002196	48.52	gold quality
right lobe of liver	UBERON:0001114	47.46	gold quality
gall bladder	UBERON:0002110	44.61	gold quality
mucosa of stomach	UBERON:0001199	44.35	gold quality
leukocyte	CL:0000738	43.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

44 targeting UGT3A2, 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-12118	100.00	65.88	1270
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-6743-5P	99.48	63.60	721
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-485-5P	99.10	64.78	1889
HSA-MIR-6884-5P	99.10	64.50	1987
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-4768-3P	98.16	66.02	2330

Literature-anchored findings (GeneRIF, showing 1)

• A phenylalanine (Phe-391) in UGT3A2 favors UDP-Glc use. (PMID:22621930)

Cross-species orthologs

88 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ugt3a1	ENSMUSG00000049152
mus_musculus	Ugt3a2	ENSMUSG00000072664
rattus_norvegicus	Ugt3a1	ENSRNOG00000059568
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), 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 3A2 — Q3SY77 (reviewed: Q3SY77)

All UniProt accessions (3): D6RDU1, D6RHY1, Q3SY77

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?
Q3SY77-1	1	yes
Q3SY77-2	2

RefSeq proteins (2): NP_001161788, NP_777574* (*=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 (12 total): sequence conflict 3, topological domain 2, sequence variant 2, signal peptide 1, chain 1, transmembrane region 1, glycosylation site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3SY77-F1	90.80	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: 52 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, STAEGE_EWING_FAMILY_TUMOR, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_RESPONSE_TO_KETONE, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_KETONE, 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

GO Biological Process (1): cellular response to genistein (GO:0071412)

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
response to genistein	1
cellular response to hydroxyisoflavone	1
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

750 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UGT3A2	SLC35A2	P78381	973
UGT3A2	NR1I2	O75469	439
UGT3A2	NAT2	P11245	433
UGT3A2	CYP1A2	P05177	395
UGT3A2	GGPS1	O95749	392
UGT3A2	ABCB1	P08183	390
UGT3A2	ABCC1	P33527	389
UGT3A2	FMO3	P31513	385
UGT3A2	IGFBP1	P08833	377
UGT3A2	SQLE	Q14534	374
UGT3A2	SULT1C4	O75897	373
UGT3A2	FDFT1	P37268	371
UGT3A2	CYP3A5	P20815	366
UGT3A2	KEAP1	Q14145	365
UGT3A2	NQO1	P15559	364

IntAct

24 interactions, top by confidence:

A	B	Type	Score
FUT1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
HTR3C	TMEM223	psi-mi:“MI:0914”(association)	0.350
MPPE1	ADAM10	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
NCEH1	C1QL1	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
HTR3B	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
CHRNB4	GPR89A	psi-mi:“MI:0914”(association)	0.350
HTR3C	GET1	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
HFE	PODXL	psi-mi:“MI:0914”(association)	0.350
CHRNE	PODXL	psi-mi:“MI:0914”(association)	0.350
DPM2	WDR46	psi-mi:“MI:0914”(association)	0.350
HTR3A	EXTL3	psi-mi:“MI:0914”(association)	0.350

BioGRID (28): UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), ACAT1 (Co-fractionation), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), UGT3A2 (Affinity Capture-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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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
Neurotransmitter receptors and postsynaptic signal transmission	6	26.1×	9e-06
Transmission across Chemical Synapses	6	19.9×	2e-05
Neuronal System	6	11.6×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
monoatomic ion transmembrane transport	6	41.6×	1e-06
chemical synaptic transmission	5	12.9×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1146 predictions. Top by Δscore:

Variant	Effect	Δscore
5:36035970:TGTAT:T	acceptor_gain	1.0000
5:36035972:TAT:T	acceptor_gain	1.0000
5:36035973:ATCT:A	acceptor_loss	1.0000
5:36035974:TCTG:T	acceptor_loss	1.0000
5:36035975:C:CA	acceptor_loss	1.0000
5:36035975:C:CC	acceptor_gain	1.0000
5:36037791:GCATA:G	donor_loss	1.0000
5:36037792:CATA:C	donor_loss	1.0000
5:36037793:ATACC:A	donor_loss	1.0000
5:36037794:TA:T	donor_loss	1.0000
5:36037795:A:AC	donor_gain	1.0000
5:36037796:C:CC	donor_gain	1.0000
5:36037796:CCT:C	donor_gain	1.0000
5:36038014:GAG:G	acceptor_gain	1.0000
5:36038017:C:CA	acceptor_loss	1.0000
5:36038017:C:CC	acceptor_gain	1.0000
5:36038020:T:C	acceptor_gain	1.0000
5:36038020:T:TC	acceptor_gain	1.0000
5:36039564:T:TA	donor_gain	1.0000
5:36039569:A:AC	donor_gain	1.0000
5:36051871:TGCC:T	donor_gain	1.0000
5:36035971:GTAT:G	acceptor_gain	0.9900
5:36035973:AT:A	acceptor_gain	0.9900
5:36037798:T:TA	donor_gain	0.9900
5:36037806:T:TA	donor_gain	0.9900
5:36037893:CGG:C	donor_gain	0.9900
5:36037984:C:CT	acceptor_gain	0.9900
5:36038012:GTGAG:G	acceptor_gain	0.9900
5:36038013:TGAG:T	acceptor_gain	0.9900
5:36038015:AG:A	acceptor_gain	0.9900

AlphaMissense

3480 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:36037992:A:T	V367D	0.988
5:36039567:A:G	W329R	0.986
5:36039567:A:T	W329R	0.986
5:36066713:A:G	L26P	0.983
5:36037970:G:C	S374R	0.981
5:36037970:G:T	S374R	0.981
5:36037972:T:G	S374R	0.981
5:36064308:A:G	L46P	0.980
5:36064343:G:C	S34R	0.979
5:36064343:G:T	S34R	0.979
5:36064345:T:G	S34R	0.979
5:36037960:C:G	A378P	0.977
5:36039482:A:G	L357P	0.977
5:36039667:A:C	F295L	0.977
5:36039667:A:T	F295L	0.977
5:36039669:A:G	F295L	0.977
5:36039665:A:T	V296D	0.974
5:36049304:A:T	I143K	0.974
5:36064287:A:T	V53D	0.974
5:36039569:A:T	I328K	0.973
5:36064318:A:G	S43P	0.973
5:36049315:G:C	F139L	0.971
5:36049315:G:T	F139L	0.971
5:36049317:A:G	F139L	0.971
5:36049069:A:C	F221L	0.968
5:36049069:A:T	F221L	0.968
5:36049071:A:G	F221L	0.968
5:36039659:A:T	V298E	0.966
5:36037998:A:G	L365P	0.965
5:36039482:A:T	L357H	0.965

dbSNP variants (sampled 300 via entrez): RS1000042335 (5:36046483 A>C,G), RS1000077299 (5:36059959 C>T), RS1000175678 (5:36065110 G>A), RS1000187338 (5:36040208 T>A,C,G), RS1000243608 (5:36053036 G>C), RS1000339125 (5:36046453 T>C), RS1000370441 (5:36046774 T>C), RS1000619323 (5:36038079 G>A), RS1000721828 (5:36038360 A>G), RS1000771062 (5:36058550 T>C), RS1001010271 (5:36045234 T>G), RS1001038307 (5:36064459 T>C), RS1001072299 (5:36058345 G>A), RS1001172425 (5:36039174 G>A), RS1001290298 (5:36059273 C>T)

Disease associations

OMIM: gene MIM:616384 | 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
GCST010397_115	Gut microbiota (bacterial taxa, rank normal transformation method)	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
potassium chromate(VI)	increases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Ivermectin	decreases expression	1
Valproic Acid	increases methylation	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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