GALNT13

Summary

GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13, HGNC:23242) is a protein-coding gene on chromosome 2q23.3-q24.1, encoding Polypeptide N-acetylgalactosaminyltransferase 13 (Q8IUC8). Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine (GalNAc) residue from UDP-GalNAc to a serine or threonine residue on the protein receptor.

The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.

Source: NCBI Gene 114805 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 84 total
• Druggable target: yes
• MANE Select transcript: NM_052917

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23242
Approved symbol	GALNT13
Name	polypeptide N-acetylgalactosaminyltransferase 13
Location	2q23.3-q24.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1918, GalNAc-T13
Ensembl gene	ENSG00000144278
Ensembl biotype	protein_coding
OMIM	608369
Entrez	114805

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 20 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000392825, ENST00000409237, ENST00000422126, ENST00000431076, ENST00000434213, ENST00000450838, ENST00000453715, ENST00000487047, ENST00000489553, ENST00000494805, ENST00000891928, ENST00000891929, ENST00000891930, ENST00000891931, ENST00000891932, ENST00000891933, ENST00000891934, ENST00000934813, ENST00000934814, ENST00000934815, ENST00000934816, ENST00000934817, ENST00000934818, ENST00000952436

RefSeq mRNA: 16 — MANE Select: NM_052917 NM_001301627, NM_001376392, NM_001376394, NM_001376398, NM_001376400, NM_001376401, NM_001376402, NM_001376403, NM_001376404, NM_001376405, NM_001422879, NM_001422880, NM_001422881, NM_001422882, NM_001422883, NM_052917

CCDS: CCDS2199, CCDS77472

Canonical transcript exons

ENST00000392825 — 13 exons

Exon	Start	End
ENSE00000840637	154438592	154438726
ENSE00000995507	154140337	154140505
ENSE00001419291	153944394	153944639
ENSE00001421940	153900936	153901007
ENSE00001424728	153871922	153872303
ENSE00001513279	154450411	154453979
ENSE00003488241	154301409	154301589
ENSE00003547589	154242030	154242196
ENSE00003558726	154408984	154409082
ENSE00003620436	154245812	154245982
ENSE00003641201	154259021	154259138
ENSE00003660851	154395991	154396130
ENSE00003683258	154242698	154242905

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 87.95.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8379 / max 134.0105, expressed in 498 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23115	1.8379	498

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar cortex	UBERON:0002129	87.95	gold quality
cerebellar hemisphere	UBERON:0002245	87.87	gold quality
cerebellum	UBERON:0002037	87.49	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.82	gold quality
corpus callosum	UBERON:0002336	86.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.63	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.95	gold quality
cortical plate	UBERON:0005343	84.49	gold quality
calcaneal tendon	UBERON:0003701	84.46	gold quality
spinal cord	UBERON:0002240	83.89	gold quality
secondary oocyte	CL:0000655	81.87	gold quality
cerebellar vermis	UBERON:0004720	81.83	gold quality
hypothalamus	UBERON:0001898	81.57	gold quality
amygdala	UBERON:0001876	80.83	gold quality
prefrontal cortex	UBERON:0000451	80.78	gold quality
substantia nigra	UBERON:0002038	79.44	gold quality
medial globus pallidus	UBERON:0002477	79.05	gold quality
Ammon’s horn	UBERON:0001954	78.18	gold quality
midbrain	UBERON:0001891	78.11	gold quality
brain	UBERON:0000955	77.62	gold quality
caudate nucleus	UBERON:0001873	77.51	gold quality
anterior cingulate cortex	UBERON:0009835	77.46	gold quality
putamen	UBERON:0001874	77.40	gold quality
frontal cortex	UBERON:0001870	77.25	gold quality
temporal lobe	UBERON:0001871	77.15	gold quality
neocortex	UBERON:0001950	77.14	gold quality
adrenal tissue	UBERON:0018303	76.93	gold quality
islet of Langerhans	UBERON:0000006	76.87	gold quality
nucleus accumbens	UBERON:0001882	76.84	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	69.71
E-HCAD-25	yes	19.15
E-ANND-3	yes	6.16
E-GEOD-93593	yes	5.07
E-GEOD-110499	no	126.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

179 targeting GALNT13, 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-6867-5P	100.00	82.21	3464
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-545-3P	99.95	70.74	2783

Literature-anchored findings (GeneRIF, showing 6)

• cloning and characterization of pp-GalNAc-T13; expressed in all neuroblastoma cells examined and primary cultured neurons but not in glioblastoma cells and primary cultured astrocytes (PMID:12407114)
• GALNT13 encodes a glycosyltransferase enzyme responsible for the synthesis of O-glycan. (PMID:22679008)
• we integrated different computational tools to perform the in silico analysis of clinically significant mutations (nsSNPs/single amino acid change) at both functional and structural levels, found in human GALNT3, GALNT8, GALNT12, and GALNT13 genes. (PMID:24038392)
• Data suggest microRNA-424 regulates expression of MGAT4A (mannoside beta-1,4-N-acetylglucosaminyltransferase A), OGT (O-linked N-acetylglucosamine transferase), and GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13) in mammary epithelium. (PMID:26589799)
• Study showed that GALNT13 mRNA is highly expressed in lung cancer patients and associated with poor prognosis. (PMID:27499036)
• the GalNAc-T13 isoform is predicted to function similarly to GalNAc-T1 against peptide substrates in vivo, in contrast to a prior report, but is unique by being selectively expressed in the brain. (PMID:27913570)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	galnt13	ENSDARG00000099227
mus_musculus	Galnt13	ENSMUSG00000060988
rattus_norvegicus	Galnt13	ENSRNOG00000005335
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), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 13 — Q8IUC8 (reviewed: Q8IUC8)

Alternative names: Polypeptide GalNAc transferase 13, Protein-UDP acetylgalactosaminyltransferase 13, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13

All UniProt accessions (8): Q8IUC8, A0A1L4BJA6, A0A1L4BJA9, C9JLI4, H7BZG2, H7BZU4, H7C0T6, H7C2I5

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 (GalNAc) residue from UDP-GalNAc to a serine or threonine residue on the protein receptor. Generates GalNAc-O-Ser/Thr structure also known as Tn antigen, which itself is immunogenic but also serves as a precursor for the synthesis of different mucin-type O-glycan core structures. Contributes to the synthesis of O-linked glycans on mucins and proteoglycans of the central nervous system. May promote neurogenesis through glycosylation and stabilization of PDPN. Can glycosylate both unmodified peptides and glycopeptides that already contain an O-linked GalNAc sugar. Transfers GalNAc to Thr-/Ser-rich tandem repeats GTTPSPVPTTSTTSAP of MUC5AC, specifically on Thr-3 of non-glycosylated MUC5AC peptide, on Thr-12 and Thr-13 of preglycosylated MUC5AC at Thr-3 (MUC5AC-3), on Thr-3 of preglycosylated MUC5AC at Thr-13 (MUC5AC-13) and on Thr-12 of preglycosylated MUC5AC at Thr-3 and Thr-13 (MUC5AC-3,13). Transfers GalNAc to three consecutive serine/threonine residues on SDC3 forming a triplet-Tn epitope expressed in Purkinje cells of the developing brain. Can glycosylate both unmodified peptides and glycopeptides that already contain an O-linked GalNAc sugar. Transfers GalNAc to Thr-/Ser-rich tandem repeats GTTPSPVPTTSTTSAP of MUC5AC, specifically on Thr-3 of non-glycosylated MUC5AC peptide, on Thr-12 and Thr-13 of preglycosylated MUC5AC at Thr-3 (MUC5AC-3), on Thr-3 of preglycosylated MUC5AC at Thr-13 (MUC5AC-13) and on Thr-12 of preglycosylated MUC5AC at Thr-3 and Thr-13 (MUC5AC-3,13).

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Specifically expressed in neuronal cells. Expressed in fetal brain, whole adult brain, cerebral cortex and cerebellum. Not expressed in other tissues tested.

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?
Q8IUC8-1	1	yes
Q8IUC8-2	2
Q8IUC8-3	3
Q8IUC8-4	4, V1

RefSeq proteins (16): NP_001288556, NP_001363321, NP_001363323, NP_001363327, NP_001363329, NP_001363330, NP_001363331, NP_001363332, NP_001363333, NP_001363334, NP_001409808, NP_001409809, NP_001409810, NP_001409811, NP_001409812, NP_443149* (*=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 (29 total): binding site 8, disulfide bond 5, splice variant 4, glycosylation site 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, sequence variant 1, sequence conflict 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUC8-F1	93.06	0.86

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 (8): 210; 315; 343; 346; 351; 155; 185; 208

Disulfide bonds (5): 105–338, 329–407, 441–458, 481–496, 522–539

Glycosylation sites (3): 94, 116, 551

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 116 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, WANG_CLIM2_TARGETS_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, COLIN_PILOCYTIC_ASTROCYTOMA_VS_GLIOBLASTOMA_UP, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, TGCTGAY_UNKNOWN, WAGNER_APO2_SENSITIVITY, TGANTCA_AP1_C, MODULE_48, MODULE_207, MODULE_95, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS

GO Biological Process (5): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), obsolete protein glycosylation (GO:0006486), obsolete protein O-linked glycosylation via serine (GO:0018242), obsolete protein O-linked glycosylation via threonine (GO:0018243)

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

944 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT13	B4GALNT1	Q00973	814
GALNT13	SDC3	O75056	770
GALNT13	MUC3A	Q02505	719
GALNT13	PTCHD1	Q96NR3	511
GALNT13	MUC7	Q8TAX7	467
GALNT13	DEFB124	Q8NES8	458
GALNT13	ZMYM5	Q9UJ78	452
GALNT13	MDGA2	Q7Z553	450
GALNT13	DPP6	P42658	449
GALNT13	AGBL5	Q8NDL9	425
GALNT13	HS3ST5	Q8IZT8	425
GALNT13	FBXO33	Q7Z6M2	419
GALNT13	PROZ	P22891	415
GALNT13	EVA1A	Q9H8M9	414
GALNT13	SCAMP1	O15126	406
GALNT13	MRTFB	Q9ULH7	406

IntAct

13 interactions, top by confidence:

A	B	Type	Score
MINK1	CNOT1	psi-mi:“MI:0914”(association)	0.530
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
TNIK	STRN	psi-mi:“MI:0914”(association)	0.350
SMIM5	KLRG2	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
TRAV20	MAP2K7	psi-mi:“MI:0914”(association)	0.350
KLRC2	CLGN	psi-mi:“MI:0914”(association)	0.350
KLRC3	RNF13	psi-mi:“MI:0914”(association)	0.350
CD1A	EXTL3	psi-mi:“MI:0914”(association)	0.350
CANT1	TGFBR3	psi-mi:“MI:0914”(association)	0.350
GALNT13	GALNT1	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): GALNT1 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), GALNT13 (Proximity Label-MS), GALNT13 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), LRRC3 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), GALNT1 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS), GALNT13 (Affinity Capture-MS)

ESM2 similar proteins: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6P6V1, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q80VA0, Q86SF2, Q86SR1, Q8BVG5, Q8C7U7, Q8CF93, Q8I136, Q8IA42, Q8IUC8, Q8MRC9, Q8MV48

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5440 predictions. Top by Δscore:

Variant	Effect	Δscore
2:153897516:G:GA	donor_gain	1.0000
2:153901005:ACAG:A	donor_loss	1.0000
2:153901006:CAGTA:C	donor_loss	1.0000
2:153901007:AGT:A	donor_loss	1.0000
2:153901008:G:GG	donor_gain	1.0000
2:153901009:TAA:T	donor_loss	1.0000
2:153905680:A:AG	acceptor_gain	1.0000
2:153944387:A:AG	acceptor_gain	1.0000
2:153944392:A:AG	acceptor_gain	1.0000
2:153944392:AGT:A	acceptor_gain	1.0000
2:153944392:AGTG:A	acceptor_gain	1.0000
2:153944393:G:GC	acceptor_gain	1.0000
2:153944393:GT:G	acceptor_gain	1.0000
2:153944393:GTG:G	acceptor_gain	1.0000
2:153944393:GTGG:G	acceptor_gain	1.0000
2:153944393:GTGGA:G	acceptor_gain	1.0000
2:153992512:T:G	acceptor_gain	1.0000
2:154140326:A:AG	acceptor_gain	1.0000
2:154140327:T:G	acceptor_gain	1.0000
2:154140334:CA:C	acceptor_loss	1.0000
2:154140335:A:AG	acceptor_gain	1.0000
2:154140335:AGCT:A	acceptor_gain	1.0000
2:154140336:G:GA	acceptor_gain	1.0000
2:154140336:GC:G	acceptor_gain	1.0000
2:154140336:GCT:G	acceptor_gain	1.0000
2:154140336:GCTG:G	acceptor_gain	1.0000
2:154140336:GCTGT:G	acceptor_gain	1.0000
2:154140501:GAAGG:G	donor_gain	1.0000
2:154140502:AAGG:A	donor_gain	1.0000
2:154140503:AGG:A	donor_gain	1.0000

AlphaMissense

3690 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:154140367:G:A	G58E	1.000
2:154140375:G:A	G61R	1.000
2:154140375:G:C	G61R	1.000
2:154140376:G:A	G61E	1.000
2:154140376:G:T	G61V	1.000
2:154140441:T:C	F83L	1.000
2:154140442:T:C	F83S	1.000
2:154140443:T:A	F83L	1.000
2:154140443:T:G	F83L	1.000
2:154140446:C:A	N84K	1.000
2:154140446:C:G	N84K	1.000
2:154140456:A:C	S88R	1.000
2:154140458:T:A	S88R	1.000
2:154140458:T:G	S88R	1.000
2:154140478:G:C	R95T	1.000
2:154140478:G:T	R95I	1.000
2:154140479:A:C	R95S	1.000
2:154140479:A:T	R95S	1.000
2:154242088:C:G	H124D	1.000
2:154242095:A:T	E126V	1.000
2:154242096:A:C	E126D	1.000
2:154242096:A:T	E126D	1.000
2:154242110:T:C	L131P	1.000
2:154242116:G:C	R133T	1.000
2:154242116:G:T	R133I	1.000
2:154242117:A:C	R133S	1.000
2:154242117:A:T	R133S	1.000
2:154242181:G:C	D155H	1.000
2:154242182:A:C	D155A	1.000
2:154242182:A:T	D155V	1.000

dbSNP variants (sampled 300 via entrez): RS1000007304 (2:154242470 T>A), RS1000013856 (2:154056523 T>A), RS1000026074 (2:154363728 T>G), RS1000026961 (2:154176784 G>T), RS1000028007 (2:154221856 T>C), RS1000029285 (2:154200854 A>G), RS1000030021 (2:153925566 T>A), RS1000030831 (2:154060207 G>A), RS1000031134 (2:154000514 C>T), RS1000032769 (2:154013625 G>C), RS1000034771 (2:153994387 ATCT>A), RS1000036401 (2:153951490 C>T), RS1000047001 (2:154158582 C>A,G,T), RS1000047224 (2:153893204 G>A,T), RS1000047475 (2:153932772 G>A)

Disease associations

OMIM: gene MIM:608369 | disease phenotypes: MIM:618658

GenCC curated gene-disease

Mondo (1): Zimmermann-Laband syndrome 3 (MONDO:0032854)

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000096_8	Aging traits	2.000000e-06
GCST001762_229	Obesity-related traits	6.000000e-06
GCST002040_4	Blood trace element (Zn levels)	5.000000e-06
GCST002207_4	Liver enzyme levels (alanine transaminase)	4.000000e-06
GCST002301_7	Body mass index	2.000000e-06
GCST002955_4	Forced expiratory volume in 1 second (occupational environmental exposures interaction)	7.000000e-07
GCST003830_26	Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)	4.000000e-07
GCST005844_3	Placental abruption	8.000000e-06
GCST006281_1	Coronary artery disease in type 1 diabetes	6.000000e-06
GCST006631_7	Nicotine dependence and major depression (severity of comorbidity)	4.000000e-06
GCST007680_7	Triiodothyronine levels and thyroxine levels	3.000000e-06
GCST009283_3	Schizophrenia or schizoaffective disorder	3.000000e-09

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004704	age at menopause
EFO:0004736	aspartate aminotransferase measurement
EFO:0004340	body mass index
EFO:0004314	forced expiratory volume
EFO:0006993	response to mineral dust exposure
EFO:0005921	FEV change measurement
EFO:0007006	depressive symptom measurement
EFO:0009262	nicotine dependence symptom count
EFO:0008392	triiodothyronine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523392 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, increases expression	4
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	decreases methylation	1
butyraldehyde	decreases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
potassium chromate(VI)	increases expression	1
beta-methylcholine	affects expression	1
microcystin RR	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
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Lead	affects expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
N-Nitrosopyrrolidine	decreases expression	1
Silicon Dioxide	increases expression	1
Triclosan	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	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
CHEMBL4386618	Binding	Inhibition of catalytic activity of ppGalNAcT13 (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

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0DQ	Ubigene HeLa GALNT13 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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