GALNT10

Summary

GALNT10 (polypeptide N-acetylgalactosaminyltransferase 10, HGNC:19873) is a protein-coding gene on chromosome 5q33.2, encoding Polypeptide N-acetylgalactosaminyltransferase 10 (Q86SR1). 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 GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.

Source: NCBI Gene 55568 — RefSeq curated summary.

At a glance

• GWAS associations: 30
• Clinical variants (ClinVar): 111 total
• Druggable target: yes
• MANE Select transcript: NM_198321

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19873
Approved symbol	GALNT10
Name	polypeptide N-acetylgalactosaminyltransferase 10
Location	5q33.2
Locus type	gene with protein product
Status	Approved
Aliases	GalNAc-T10
Ensembl gene	ENSG00000164574
Ensembl biotype	protein_coding
OMIM	608043
Entrez	55568

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000297107, ENST00000377661, ENST00000425427, ENST00000517958, ENST00000519235, ENST00000519544, ENST00000519571, ENST00000520647, ENST00000521781, ENST00000521786, ENST00000917830, ENST00000917831, ENST00000917832, ENST00000969502, ENST00000969503

RefSeq mRNA: 1 — MANE Select: NM_198321 NM_198321

CCDS: CCDS4325

Canonical transcript exons

ENST00000297107 — 12 exons

Exon	Start	End
ENSE00001859677	154416814	154420984
ENSE00003514857	154386313	154386430
ENSE00003527063	154297941	154298079
ENSE00003528382	154376277	154376462
ENSE00003533015	154412889	154413005
ENSE00003540839	154409541	154409762
ENSE00003579072	154380448	154380631
ENSE00003590496	154294816	154294918
ENSE00003636323	154415783	154415932
ENSE00003642540	154329572	154329738
ENSE00003664199	154404104	154404211
ENSE00003842347	154190733	154191025

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 93.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.5022 / max 1338.7329, expressed in 1808 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
59722	23.2855	1805
59723	4.3342	1435
59727	1.2217	435
59721	0.2736	117
59720	0.2687	125
59726	0.0926	35
59725	0.0260	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	93.39	gold quality
synovial joint	UBERON:0002217	92.98	gold quality
left ovary	UBERON:0002119	92.08	gold quality
pigmented layer of retina	UBERON:0001782	91.98	gold quality
retina	UBERON:0000966	91.96	gold quality
ovary	UBERON:0000992	90.77	gold quality
right ovary	UBERON:0002118	90.49	gold quality
choroid plexus epithelium	UBERON:0003911	89.85	gold quality
gall bladder	UBERON:0002110	89.46	gold quality
tendon	UBERON:0000043	89.41	gold quality
stromal cell of endometrium	CL:0002255	89.32	gold quality
granulocyte	CL:0000094	89.22	gold quality
islet of Langerhans	UBERON:0000006	88.56	gold quality
calcaneal tendon	UBERON:0003701	87.95	gold quality
blood	UBERON:0000178	87.27	gold quality
right coronary artery	UBERON:0001625	86.92	gold quality
vermiform appendix	UBERON:0001154	86.81	gold quality
body of stomach	UBERON:0001161	86.48	gold quality
stomach	UBERON:0000945	86.47	gold quality
tibia	UBERON:0000979	86.21	gold quality
rectum	UBERON:0001052	86.18	gold quality
ascending aorta	UBERON:0001496	86.11	gold quality
thoracic aorta	UBERON:0001515	85.97	gold quality
layer of synovial tissue	UBERON:0007616	85.73	gold quality
upper lobe of left lung	UBERON:0008952	85.65	gold quality
upper lobe of lung	UBERON:0008948	85.55	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.55	gold quality
leukocyte	CL:0000738	85.44	gold quality
monocyte	CL:0000576	85.12	gold quality
mononuclear cell	CL:0000842	85.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.89

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA3

miRNA regulators (miRDB)

158 targeting GALNT10, 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-4713-3P	100.00	65.92	505
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621

Literature-anchored findings (GeneRIF, showing 11)

• Molecular cloning and characterization of pp-GalNAc-T10 as a UDP-GalNAc transferase. (PMID:12417297)
• sequence recognition by the catalytic domain differs between hT2 and hT10 in that hT10 requires a pre-existing GalNAc residue while hT2 does not (PMID:18562306)
• GalNAc T10 has a large and pronounced glycopeptide preference for Ser/Thr-O-GalNAc only at the +1 position from the acceptor site, whereas T1 and T2 have significantly reduced and variable preferences for Ser/Thr-O-GalNAc. (PMID:19460755)
• Elevated Expression of N-Acetylgalactosaminyltransferase 10 is associated with early Recurrence of Patients with Clear-Cell Renal Cell Carcinoma. (PMID:25391266)
• our results reveal a novel Hnf4alpha/miR-122/GALNT10 regulatory pathway that facilitates EGF miR-122 activation and hepatoma growth in HBV-associated hepatocarcinogenesis. (PMID:25422324)
• SNPs in LEKR1 and GALNT10 modulate sex-difference in carotid intima-media thickness. (PMID:25898001)
• identified that GALNT10 was an independent prognostic factor for overall survival (PMID:28122358)
• high GALNT10 expression confers with immunosuppressive microenvironment to promote tumor progression and predicts poor clinical outcomes in HGSC patients. (PMID:31853576)
• GALNT10 promotes the proliferation and metastatic ability of gastric cancer and reduces 5-fluorouracil sensitivity by activating HOXD13. (PMID:33275228)
• The long noncoding RNA DLGAP1-AS2 facilitates cholangiocarcinoma progression via miR-505 and GALNT10. (PMID:33301605)
• BAG3 epigenetically regulates GALNT10 expression via WDR5 and facilitates the stem cell-like properties of platin-resistant ovarian cancer cells. (PMID:34111434)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000100453
mus_musculus	Galnt10	ENSMUSG00000020520
rattus_norvegicus	Galnt10	ENSRNOG00000002488
drosophila_melanogaster	Pgant5	FBGN0031681
drosophila_melanogaster	Pgant9	FBGN0050463
caenorhabditis_elegans		WBGENE00001628
caenorhabditis_elegans		WBGENE00001630

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), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 10 — Q86SR1 (reviewed: Q86SR1)

Alternative names: Polypeptide GalNAc transferase 10, Protein-UDP acetylgalactosaminyltransferase 10, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 10

All UniProt accessions (2): Q86SR1, F2Z2M7

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. Has activity toward Muc5Ac and EA2 peptide substrates.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Widely expressed. Expressed at high level in small intestine, and at intermediate levels in stomach, pancreas, ovary, thyroid gland and spleen. Weakly expressed in other tissues.

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 (4)

UniProt ID	Names	Canonical?
Q86SR1-1	1	yes
Q86SR1-2	2
Q86SR1-3	3
Q86SR1-4	4

RefSeq proteins (1): NP_938080* (*=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

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 (92 total): strand 24, helix 22, binding site 11, turn 10, splice variant 6, disulfide bond 5, region of interest 4, glycosylation site 3, topological domain 2, chain 1, transmembrane region 1, sequence conflict 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2D7I	X-RAY DIFFRACTION	2.5
2D7R	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86SR1-F1	91.34	0.84

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 (11): 154; 156; 185; 214; 237; 238; 239; 342; 370; 373; 378

Disulfide bonds (5): 135–365, 356–432, 471–488, 523–538, 563–578

Glycosylation sites (3): 124, 146, 593

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 246 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, PAX4_01, ROVERSI_GLIOMA_COPY_NUMBER_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, BRUECKNER_TARGETS_OF_MIRLET7A3_DN, GTGCCTT_MIR506, MODULE_205, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, TGCTGAY_UNKNOWN, WAGNER_APO2_SENSITIVITY

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 (6): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), protein binding (GO:0005515), 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
binding	2
glycoprotein biosynthetic process	1
protein O-linked glycosylation	1
acetylgalactosaminyltransferase activity	1
catalytic activity, acting on a protein	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

806 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT10	MFAP3	P55082	505
GALNT10	KLHL32	Q96NJ5	477
GALNT10	NMUR2	Q9GZQ4	473
GALNT10	AUTS2	Q8WXX7	470
GALNT10	GNPDA2	Q8TDQ7	449
GALNT10	MPP2	Q14168	438
GALNT10	SEC16B	Q96JE7	430
GALNT10	C1GALT1	Q9NS00	429
GALNT10	DLG2	Q15700	419
GALNT10	MUC4	Q99102	405
GALNT10	LEKR1	Q6ZMV7	398
GALNT10	PTPRD	P23468	397
GALNT10	C19orf53	Q9UNZ5	395
GALNT10	CCNG1	P51959	388
GALNT10	HNF4A	P41235	387

IntAct

26 interactions, top by confidence:

A	B	Type	Score
BCL2	BCL2L11	psi-mi:“MI:0914”(association)	0.930
BCL2L1	BCL2L11	psi-mi:“MI:0914”(association)	0.870
LYPD3	SCAMP1	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
CCT7	PEX7	psi-mi:“MI:0914”(association)	0.530
Dlg4	GALNT10	psi-mi:“MI:0407”(direct interaction)	0.440
LYPD3	CLASP2	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
UGT2B7	ACTN4	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ECSCR	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
LYPD3	TNPO2	psi-mi:“MI:0914”(association)	0.350
GALNT10	PLXNA2	psi-mi:“MI:0914”(association)	0.350
NCR3	POTEF	psi-mi:“MI:0914”(association)	0.350
PI15		psi-mi:“MI:0914”(association)	0.350
LYZL1	MAN2B1	psi-mi:“MI:0914”(association)	0.350
LYPD3	NEMP1	psi-mi:“MI:0914”(association)	0.350
BCL2L1	UBB	psi-mi:“MI:0914”(association)	0.350
SLC30A1	PSMD11	psi-mi:“MI:0914”(association)	0.350
SLC39A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (65): GALNT10 (Affinity Capture-RNA), GALNT10 (Affinity Capture-RNA), GALNT10 (Affinity Capture-MS), GALNT10 (Affinity Capture-MS), GALNT10 (Affinity Capture-RNA), GALNT10 (Affinity Capture-RNA), GALNT10 (Affinity Capture-RNA), GALNT10 (Two-hybrid), GALNT10 (Affinity Capture-MS), GALNT10 (Affinity Capture-MS), GALNT10 (Proximity Label-MS), IGSF3 (Affinity Capture-MS), SEMA6A (Affinity Capture-MS), GYLTL1B (Affinity Capture-MS), FAM118B (Affinity Capture-MS)

ESM2 similar proteins: A2AJ15, B2GUY0, O02773, O18498, O60476, P32906, P33908, P39098, P45700, P45701, P53624, Q08463, Q10471, Q18788, Q1L8D2, Q2HXL6, Q49A17, Q5EA41, Q5GF25, Q5RFJ6, Q6GQB9, Q6NXH2, Q6P9S7, Q6PB93, Q6WV16, Q80VA0, Q86SF2, Q86SR1, Q8BJT9, Q8H116, Q8J0Q0, Q8K1B9, Q8N428, Q925R7, Q925U4, Q92611, Q93Y37, Q9BV94, Q9BZQ6, Q9C512

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	89
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3354 predictions. Top by Δscore:

Variant	Effect	Δscore
5:154294813:AAG:A	acceptor_gain	1.0000
5:154294911:GCGC:G	donor_gain	1.0000
5:154294914:CGTAG:C	donor_loss	1.0000
5:154294919:G:T	donor_loss	1.0000
5:154297936:TCTAG:T	acceptor_loss	1.0000
5:154297937:CTAGG:C	acceptor_loss	1.0000
5:154297938:TAGGA:T	acceptor_loss	1.0000
5:154297939:A:AG	acceptor_gain	1.0000
5:154297940:G:GG	acceptor_gain	1.0000
5:154297940:GGA:G	acceptor_gain	1.0000
5:154297940:GGAA:G	acceptor_gain	1.0000
5:154298076:CAAAG:C	donor_loss	1.0000
5:154298077:AAAG:A	donor_loss	1.0000
5:154298078:AA:A	donor_gain	1.0000
5:154298078:AAGTG:A	donor_loss	1.0000
5:154298079:AG:A	donor_loss	1.0000
5:154298080:G:GG	donor_gain	1.0000
5:154298081:T:A	donor_loss	1.0000
5:154329558:A:AG	acceptor_gain	1.0000
5:154329558:AT:A	acceptor_gain	1.0000
5:154329559:T:G	acceptor_gain	1.0000
5:154329559:T:TA	acceptor_gain	1.0000
5:154329570:A:AG	acceptor_gain	1.0000
5:154329571:G:GT	acceptor_gain	1.0000
5:154329571:GC:G	acceptor_gain	1.0000
5:154329571:GCT:G	acceptor_gain	1.0000
5:154329735:CGAGG:C	donor_loss	1.0000
5:154329739:GT:G	donor_loss	1.0000
5:154329740:T:A	donor_loss	1.0000
5:154376272:CATA:C	acceptor_loss	1.0000

AlphaMissense

3974 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:154298013:G:A	G112E	1.000
5:154298015:T:C	F113L	1.000
5:154298017:T:A	F113L	1.000
5:154298017:T:G	F113L	1.000
5:154376418:A:C	D237A	1.000
5:154376418:A:T	D237V	1.000
5:154376423:C:G	H239D	1.000
5:154380561:T:A	W290R	1.000
5:154380561:T:C	W290R	1.000
5:154386398:T:A	W342R	1.000
5:154386398:T:C	W342R	1.000
5:154386400:G:C	W342C	1.000
5:154386400:G:T	W342C	1.000
5:154404147:G:T	R367M	1.000
5:154404152:G:C	G369R	1.000
5:154404153:G:A	G369D	1.000
5:154404155:C:A	H370N	1.000
5:154404155:C:G	H370D	1.000
5:154404156:A:C	H370P	1.000
5:154404156:A:G	H370R	1.000
5:154404157:T:A	H370Q	1.000
5:154404157:T:G	H370Q	1.000
5:154404165:G:C	R373T	1.000
5:154404165:G:T	R373M	1.000
5:154404166:G:C	R373S	1.000
5:154404166:G:T	R373S	1.000
5:154415847:G:A	C523Y	1.000
5:154415848:C:G	C523W	1.000
5:154415918:T:A	W547R	1.000
5:154415918:T:C	W547R	1.000

dbSNP variants (sampled 300 via entrez): RS1000006629 (5:154406600 C>CA), RS1000009747 (5:154246494 T>A,C), RS1000017424 (5:154383885 AACTGCCTGAG>A), RS1000055865 (5:154349007 C>T), RS1000117184 (5:154355236 C>T), RS1000124246 (5:154350235 T>C), RS1000130388 (5:154206947 C>A), RS1000132594 (5:154336652 TTC>T), RS1000142160 (5:154394347 T>C), RS1000169235 (5:154246388 T>A,C), RS1000197606 (5:154208488 C>G,T), RS1000206487 (5:154336946 C>T), RS1000220879 (5:154246182 C>G,T), RS1000229117 (5:154355570 C>T), RS1000242091 (5:154197757 C>T)

Disease associations

OMIM: gene MIM:608043 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

30 associations (top):

Study	Trait	p-value
GCST001125_2	Body mass index	6.000000e-06
GCST001967_5	Body mass index	5.000000e-14
GCST002131_9	Behavioural disinhibition (generation interaction)	4.000000e-06
GCST002539_62	Schizophrenia	3.000000e-08
GCST002541_17	Menarche (age at onset)	5.000000e-08
GCST002783_230	Body mass index	9.000000e-09
GCST002783_410	Body mass index	2.000000e-07
GCST002783_466	Body mass index	6.000000e-06
GCST002856_2	Carotid artery intima media thickness (sex interaction)	5.000000e-06
GCST002856_4	Carotid artery intima media thickness (sex interaction)	5.000000e-07
GCST003177_26	Childhood body mass index	3.000000e-06
GCST004495_48	BMI (adjusted for smoking behaviour)	4.000000e-06
GCST004497_96	Body mass index (joint analysis main effects and smoking interaction)	2.000000e-06
GCST004519_10	Body mass index (adult)	4.000000e-14
GCST004519_17	Body mass index (adult)	1.000000e-07
GCST004519_21	Body mass index (adult)	4.000000e-15
GCST004519_27	Body mass index (adult)	1.000000e-08
GCST004521_128	Autism spectrum disorder or schizophrenia	2.000000e-10
GCST004521_194	Autism spectrum disorder or schizophrenia	3.000000e-09
GCST004946_103	Schizophrenia	2.000000e-08
GCST006295_4	Response to quetiapine in schizophrenia	1.000000e-06
GCST006803_48	Schizophrenia	1.000000e-06
GCST006940_57	Neurociticism	3.000000e-08
GCST006952_26	Feeling tense	4.000000e-08
GCST007201_320	Schizophrenia	2.000000e-08
GCST007201_60	Schizophrenia	2.000000e-08
GCST008595_169	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	2.000000e-08
GCST008830_17	Neurofibrillary tangles	1.000000e-06
GCST010244_102	Triglyceride levels	6.000000e-09
GCST012354_15	Anxiety	2.000000e-07

EFO canonical traits (16, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004329	alcohol drinking
EFO:0005430	nicotine use
EFO:0005431	illegal drug consumption
EFO:0005432	non-substance related disinhibited behaviour
EFO:0008364	generational effect measurement
EFO:0004703	age at menarche
EFO:0008343	sex interaction measurement
EFO:0004318	smoking behavior
EFO:0007660	neuroticism measurement
EFO:0009596	feeling tense measurement
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0006797	neurofibrillary tangles measurement
EFO:0004530	triglyceride measurement
EFO:0009863	anxiety measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523371 (SINGLE PROTEIN)

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.48	IC50	330	nM	CHEMBL6338

PubChem BioAssay actives

1 with measured affinity, of 1 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3,4,8,9-tetrahydroxybenzo[c]chromen-6-one	1588077: Inhibition of catalytic activity of ppGalNAcT10 (unknown origin) using EA2 peptide as substrate incubated for 30 mins by HPLC-based enzyme assay	ic50	0.3300	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression, increases methylation	7
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	increases expression, increases methylation	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Acetaminophen	increases expression	2
Arsenic	affects expression, affects cotreatment, decreases expression, increases abundance	2
Estradiol	decreases expression, decreases reaction, affects cotreatment, increases expression	2
Ozone	increases abundance, affects cotreatment, increases oxidation, affects expression	2
Tetrachlorodibenzodioxin	increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	increases methylation	1
terbufos	increases methylation	1
cobaltous chloride	decreases expression	1
bleomycetin	decreases expression	1
potassium chromate(VI)	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, 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	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4386622	Binding	Inhibition of catalytic activity of ppGalNAcT10 (unknown origin) using EA2 peptide as substrate incubated for 30 mins by HPLC-based enzyme assay	Inhibition of polypeptide N-acetyl-α-galactosaminyltransferases is an underlying mechanism of dietary polyphenols preventing colorectal tumorigenesis. — Bioorg Med Chem

Clinical trials (associated diseases)

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