GALNT9

Summary

GALNT9 (polypeptide N-acetylgalactosaminyltransferase 9, HGNC:4131) is a protein-coding gene on chromosome 12q24.33, encoding Polypeptide N-acetylgalactosaminyltransferase 9 (Q9HCQ5). Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 50614 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_001122636

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4131
Approved symbol	GALNT9
Name	polypeptide N-acetylgalactosaminyltransferase 9
Location	12q24.33
Locus type	gene with protein product
Status	Approved
Aliases	GALNAC-T9
Ensembl gene	ENSG00000182870
Ensembl biotype	protein_coding
OMIM	606251
Entrez	50614

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000328957, ENST00000397325, ENST00000411988, ENST00000424720, ENST00000535208, ENST00000538356, ENST00000540493, ENST00000541995, ENST00000542942, ENST00000614360, ENST00000966127, ENST00000966128

RefSeq mRNA: 2 — MANE Select: NM_001122636 NM_001122636, NM_021808

CCDS: CCDS41866, CCDS81755

Canonical transcript exons

ENST00000328957 — 11 exons

Exon	Start	End
ENSE00001303731	132201124	132201261
ENSE00001318094	132197792	132197959
ENSE00001321266	132199174	132199269
ENSE00001528206	132196372	132197253
ENSE00002265466	132328966	132329589
ENSE00003460961	132203505	132203690
ENSE00003479648	132262459	132262625
ENSE00003583390	132286250	132286430
ENSE00003592298	132257689	132257886
ENSE00003640959	132247910	132248027
ENSE00003643770	132260948	132261122

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 98.29.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1971 / max 216.9267, expressed in 209 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
134199	0.9622	148
134196	0.1398	53
134197	0.0482	21
134200	0.0468	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	98.29	gold quality
cerebellar hemisphere	UBERON:0002245	98.11	gold quality
cerebellum	UBERON:0002037	98.09	gold quality
cerebellar cortex	UBERON:0002129	98.09	gold quality
right frontal lobe	UBERON:0002810	94.81	gold quality
primary visual cortex	UBERON:0002436	93.59	gold quality
frontal cortex	UBERON:0001870	93.39	gold quality
superior frontal gyrus	UBERON:0002661	93.22	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.73	gold quality
anterior cingulate cortex	UBERON:0009835	92.47	gold quality
prefrontal cortex	UBERON:0000451	92.38	gold quality
cerebral cortex	UBERON:0000956	91.94	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.90	gold quality
Ammon’s horn	UBERON:0001954	89.90	gold quality
temporal lobe	UBERON:0001871	87.53	gold quality
amygdala	UBERON:0001876	87.38	gold quality
brain	UBERON:0000955	85.29	gold quality
hypothalamus	UBERON:0001898	85.21	gold quality
left lobe of thyroid gland	UBERON:0001120	84.87	gold quality
right lobe of thyroid gland	UBERON:0001119	83.87	gold quality
thyroid gland	UBERON:0002046	83.36	gold quality
metanephros cortex	UBERON:0010533	82.72	gold quality
cortex of kidney	UBERON:0001225	79.78	gold quality
substantia nigra	UBERON:0002038	78.94	gold quality
pituitary gland	UBERON:0000007	76.85	gold quality
adult mammalian kidney	UBERON:0000082	74.98	gold quality
adenohypophysis	UBERON:0002196	74.04	gold quality
kidney	UBERON:0002113	73.85	gold quality
cortical plate	UBERON:0005343	73.84	gold quality
omental fat pad	UBERON:0010414	72.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.92

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting GALNT9, 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-506-3P	99.89	73.55	3057
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-4723-3P	97.67	65.91	1017
HSA-MIR-4642	97.52	67.60	916
HSA-MIR-558	97.50	67.16	977
HSA-MIR-3622A-5P	97.43	67.11	356
HSA-MIR-6769B-3P	97.41	65.53	1036
HSA-MIR-3183	97.40	65.68	978
HSA-MIR-6748-3P	97.20	65.66	836
HSA-MIR-6515-5P	97.08	65.48	1219

Literature-anchored findings (GeneRIF, showing 1)

• GALNT9 expression correlates with both improved overall survival in low- and high-risk groups and an improved clinical outcome (overall and disease-free survival) in low-risk patients (PMID:23136245)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	galnt9	ENSDARG00000006832
mus_musculus	Galnt9	ENSMUSG00000033316
rattus_norvegicus	Galnt9	ENSRNOG00000037476
drosophila_melanogaster	Pgant7	FBGN0030930
drosophila_melanogaster	Pgant5	FBGN0031681
drosophila_melanogaster	Pgant6	FBGN0035375
drosophila_melanogaster	CG7304	FBGN0036527
drosophila_melanogaster	CG7579	FBGN0036528
drosophila_melanogaster	Pgant8	FBGN0036529
drosophila_melanogaster	Pgant9	FBGN0050463
drosophila_melanogaster	CG31776	FBGN0051776
drosophila_melanogaster	Pgant4	FBGN0051956
caenorhabditis_elegans		WBGENE00001628
caenorhabditis_elegans		WBGENE00001630
caenorhabditis_elegans		WBGENE00001632
caenorhabditis_elegans		WBGENE00001635

Paralogs (19): GALNT16 (ENSG00000100626), GALNTL5 (ENSG00000106648), GALNT7 (ENSG00000109586), GALNT18 (ENSG00000110328), GALNT3 (ENSG00000115339), GALNT12 (ENSG00000119514), GALNT8 (ENSG00000130035), GALNT15 (ENSG00000131386), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 9 — Q9HCQ5 (reviewed: Q9HCQ5)

Alternative names: Polypeptide GalNAc transferase 9, Protein-UDP acetylgalactosaminyltransferase 9, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9

All UniProt accessions (5): Q9HCQ5, F5H317, F5H557, H3BM10, J3KNN1

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Specifically expressed in brain. Not expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. In brain, it is expressed in cerebellum, frontal lobe, temporal lobe, putamen and spinal cord, weakly expressed in cerebral cortex. Not expressed in medulla and occipital pole.

Domain organisation. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9HCQ5-1	1	yes
Q9HCQ5-2	2

RefSeq proteins (2): NP_001116108, NP_068580 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000772	Ricin_B_lectin	Domain
IPR001173	Glyco_trans_2-like	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR035992	Ricin_B-like_lectins	Homologous_superfamily
IPR045885	GalNAc-T	Domain

Pfam: PF00535, PF00652

Enzyme classification (BRENDA):

• EC 2.4.1.41 — polypeptide N-acetylgalactosaminyltransferase (BRENDA: 21 organisms, 537 substrates, 86 inhibitors, 206 Km, 52 kcat entries)

Substrate kinetics (BRENDA)

71 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-GALNAC	0.0017–16	32
UDP-N-ACETYL-D-GALACTOSAMINE	0.008–0.081	11
PTTDSTTPAPTTK	0.042–1.02	7
GTTPSPVPTTSTTSAP	0.0259–0.344	5
MUC5AC-13	0.018–0.77	5
MUC5AC-3	0.033–0.107	5
STPSTPSTPSTPSTP	0.2–0.65	5
CPPTPSATTPAPPSSSAPPETTAA	0.01–0.48	4
DSTTPAPTTK	0.07–2.19	4
GTTPSPVPTTST[GALNAC]TSAP	0.115–0.46	4
GT[GALNAC]TPSPVPTTSTTSAP	0.035–0.332	4
UDP-GAL	0.027–0.041	4
GVVPTVVPG	1.74–17.6	3
IGA HINGE	0.01–0.02	3
IGA HINGE-4GALNAC	0.12–0.81	3

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP + H(+) (RHEA:23956)
• L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP + H(+) (RHEA:52424)

UniProt features (22 total): binding site 7, disulfide bond 5, topological domain 2, region of interest 2, chain 1, glycosylation site 1, transmembrane region 1, splice variant 1, sequence conflict 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCQ5-F1	89.04	0.76

Functional residue map

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

Ligand- & substrate-binding residues (7): 247; 377; 380; 385; 191; 222; 245

Disulfide bonds (5): 141–372, 363–442, 477–493, 525–540, 567–587

Glycosylation sites (1): 460

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-913709	O-linked glycosylation of mucins

MSigDB gene sets: 89 (showing top): ROVERSI_GLIOMA_COPY_NUMBER_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GTGCCTT_MIR506, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, COWLING_MYCN_TARGETS, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, XU_GH1_EXOGENOUS_TARGETS_DN, GOMF_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, chr12q24, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_POLYPEPTIDE_N_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY

GO Biological Process (3): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (5): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
O-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
protein O-linked glycosylation	1
acetylgalactosaminyltransferase activity	1
catalytic activity, acting on a protein	1
binding	1
cation binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1072 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT9	CCDC8	Q9H0W5	571
GALNT9	CAPN8	A6NHC0	530
GALNT9	RILPL1	Q5EBL4	437
GALNT9	ECSCR	Q19T08	427
GALNT9	TMEM61	Q8N0U2	417
GALNT9	DLGAP4	Q9Y2H0	413
GALNT9	GCNT1	Q02742	409
GALNT9	B4GALT1	P15291	397
GALNT9	CCNB3	Q8WWL7	397
GALNT9	FAM20C	Q8IXL6	393
GALNT9	SHANK2	Q9UPX8	388
GALNT9	ST6GALNAC5	Q9BVH7	386
GALNT9	ETDA	Q3ZM63	371
GALNT9	CST8	O60676	366
GALNT9	ASXL2	Q76L83	366

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PHACTR3	KCNK3	psi-mi:“MI:0914”(association)	0.350
GALNT9	OBI1	psi-mi:“MI:0914”(association)	0.350
ADNP2	GLI4	psi-mi:“MI:0914”(association)	0.350
GALNT9	HSPA8	psi-mi:“MI:0914”(association)	0.350
GALNT9	CTSV	psi-mi:“MI:0914”(association)	0.350
GALNT9	CMA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (45): GALNT9 (Affinity Capture-MS), HSPA2 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), GALNT9 (Affinity Capture-MS), ALOX12B (Affinity Capture-MS), TUSC2 (Affinity Capture-MS), ESRP2 (Affinity Capture-MS), SERPINB7 (Affinity Capture-MS), RNF31 (Affinity Capture-MS), TPK1 (Affinity Capture-MS), CPA4 (Affinity Capture-MS), ANAPC5 (Affinity Capture-MS), CHTF18 (Affinity Capture-MS), PRIM1 (Affinity Capture-MS), VPS33A (Affinity Capture-MS)

ESM2 similar proteins: A4IGL7, D3ZB51, E9PZ19, O75882, O94779, O95970, P00533, P02469, P07942, P13590, P15209, P24503, P24786, P33150, P39038, P55245, P55283, P68500, P97300, P97527, P97546, Q01279, Q01973, Q03351, Q16288, Q16620, Q1EGL2, Q3B7N0, Q3UQ28, Q5IFJ9, Q5IS37, Q5IS82, Q5R945, Q63604, Q6IS24, Q6VNS1, Q7TPD3, Q7TT15, Q8K4Y5, Q8N475

Diamond homologs: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, O88422, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6IS24, Q6P6V1, Q6P9A2, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q7TT15, Q7Z4T8, Q7Z7M9, Q80VA0, Q86SF2, Q86SR1, Q8BGT9, Q8BVG5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4711 predictions. Top by Δscore:

Variant	Effect	Δscore
12:132197249:CCACT:C	acceptor_gain	1.0000
12:132197250:CACT:C	acceptor_gain	1.0000
12:132197250:CACTC:C	acceptor_gain	1.0000
12:132197252:CT:C	acceptor_gain	1.0000
12:132197253:TC:T	acceptor_loss	1.0000
12:132197254:C:A	acceptor_loss	1.0000
12:132197254:C:CC	acceptor_gain	1.0000
12:132197787:CTGA:C	donor_loss	1.0000
12:132197788:TGA:T	donor_loss	1.0000
12:132197789:GAC:G	donor_loss	1.0000
12:132197790:A:AT	donor_loss	1.0000
12:132197956:CCAG:C	acceptor_gain	1.0000
12:132197957:CAGC:C	acceptor_gain	1.0000
12:132203498:GACTC:G	donor_loss	1.0000
12:132203499:ACTC:A	donor_loss	1.0000
12:132203500:CTCAC:C	donor_loss	1.0000
12:132203503:ACCG:A	donor_loss	1.0000
12:132203504:CCGA:C	donor_gain	1.0000
12:132203689:ACCT:A	acceptor_loss	1.0000
12:132203691:CTG:C	acceptor_loss	1.0000
12:132247908:AC:A	donor_gain	1.0000
12:132247909:CC:C	donor_gain	1.0000
12:132247909:CCCT:C	donor_gain	1.0000
12:132257683:GCTCA:G	donor_loss	1.0000
12:132257684:CTCA:C	donor_loss	1.0000
12:132257685:TCACC:T	donor_loss	1.0000
12:132257686:CACCT:C	donor_loss	1.0000
12:132257688:C:T	donor_loss	1.0000
12:132257887:C:CC	acceptor_gain	1.0000
12:132260942:CCTTA:C	donor_loss	1.0000

AlphaMissense

3940 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:132262536:G:A	S170F	1.000
12:132257886:C:A	W254C	0.999
12:132257886:C:G	W254C	0.999
12:132260949:A:G	W254R	0.999
12:132260949:A:T	W254R	0.999
12:132262482:A:G	L188P	0.999
12:132262536:G:T	S170Y	0.999
12:132262537:A:G	S170P	0.999
12:132262539:C:G	R169P	0.999
12:132262540:G:T	R169S	0.999
12:132262542:A:G	L168P	0.999
12:132286277:C:G	R131P	0.999
12:132262482:A:C	L188R	0.998
12:132262526:G:C	S173R	0.998
12:132262526:G:T	S173R	0.998
12:132262528:T:G	S173R	0.998
12:132262540:G:C	R169G	0.998
12:132260964:C:T	E249K	0.997
12:132262482:A:T	L188Q	0.997
12:132262497:A:G	L183P	0.997
12:132262533:A:T	V171E	0.997
12:132286277:C:A	R131L	0.997
12:132286278:G:C	R131G	0.997
12:132197143:C:A	W592C	0.996
12:132197143:C:G	W592C	0.996
12:132257751:C:A	W299C	0.996
12:132257751:C:G	W299C	0.996
12:132261092:A:T	V206D	0.996
12:132262488:A:T	V186D	0.996
12:132262497:A:T	L183H	0.996

dbSNP variants (sampled 300 via entrez): RS1000006615 (12:132273680 G>A), RS1000029454 (12:132205607 G>A), RS1000059842 (12:132202200 G>T), RS1000062614 (12:132278381 G>A), RS1000119888 (12:132208555 T>C,G), RS1000127139 (12:132255412 G>C), RS1000127849 (12:132316827 C>T), RS1000222950 (12:132316568 C>T), RS1000234132 (12:132208415 C>T), RS1000236707 (12:132248705 G>T), RS1000246816 (12:132237051 C>T), RS1000250458 (12:132253334 G>A,C), RS1000259677 (12:132205140 T>TA), RS1000281475 (12:132253620 G>C), RS1000306944 (12:132212001 G>A,C)

Disease associations

OMIM: gene MIM:606251 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST002783_443	Body mass index	3.000000e-06
GCST002783_519	Body mass index	3.000000e-06
GCST002783_8	Body mass index	4.000000e-06
GCST005025_37	Anti-saccade response	2.000000e-06
GCST005025_4	Anti-saccade response	6.000000e-07
GCST007059_15	Response to antidepressants (symptom improvement)	5.000000e-06
GCST007060_6	Response to SSRI (symptom remission)	3.000000e-06
GCST012490_543	Femur bone mineral density x serum urate levels interaction	5.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006874	antisaccade response measurement
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation	2
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects expression	1
aflatoxin B2	affects methylation	1
pentanal	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
bisphenol S	increases methylation, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Acetaminophen	decreases expression	1
Air Pollutants	increases expression, increases abundance	1
Arsenic	affects methylation	1
Dactinomycin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Phthalic Acids	decreases methylation	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Acrylamide	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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