GALNT3

Summary

GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3, HGNC:4125) is a protein-coding gene on chromosome 2q24.3, encoding Polypeptide N-acetylgalactosaminyltransferase 3 (Q14435). 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 UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities.

Source: NCBI Gene 2591 — RefSeq curated summary.

At a glance

• Gene–disease (curated): tumoral calcinosis, hyperphosphatemic, familial, 1 (Definitive, ClinGen)
• GWAS associations: 9
• Clinical variants (ClinVar): 550 total — 48 pathogenic, 24 likely-pathogenic
• Phenotypes (HPO): 19
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_004482

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4125
Approved symbol	GALNT3
Name	polypeptide N-acetylgalactosaminyltransferase 3
Location	2q24.3
Locus type	gene with protein product
Status	Approved
Aliases	GalNAc-T3, HHS, HFTC
Ensembl gene	ENSG00000115339
Ensembl biotype	protein_coding
OMIM	601756
Entrez	2591

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 16 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000392701, ENST00000409882, ENST00000412248, ENST00000414977, ENST00000422973, ENST00000431484, ENST00000437849, ENST00000447156, ENST00000463254, ENST00000715282, ENST00000902715, ENST00000902716, ENST00000902717, ENST00000902718, ENST00000916822, ENST00000916823, ENST00000916824, ENST00000970388

RefSeq mRNA: 1 — MANE Select: NM_004482 NM_004482

CCDS: CCDS2226

Canonical transcript exons

ENST00000392701 — 11 exons

Exon	Start	End
ENSE00000779999	165749742	165749894
ENSE00000780011	165754627	165754728
ENSE00000780042	165754932	165755063
ENSE00000780063	165761905	165762054
ENSE00000780067	165764884	165765056
ENSE00001512818	165747588	165748903
ENSE00001512819	165770186	165770808
ENSE00001622785	165794015	165794247
ENSE00003655872	165759336	165759570
ENSE00003675327	165758747	165758864
ENSE00003788471	165757047	165757247

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 97.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1322 / max 166.3748, expressed in 959 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
31659	5.0615	619
31662	2.0986	469
31661	1.0303	235
31658	0.8444	374
31657	0.3721	202
31664	0.2203	115
31665	0.2154	113
31660	0.1010	44
31666	0.0944	39
31663	0.0941	48

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of sigmoid colon	UBERON:0004993	97.52	gold quality
bronchial epithelial cell	CL:0002328	97.46	gold quality
parotid gland	UBERON:0001831	97.32	gold quality
jejunal mucosa	UBERON:0000399	97.31	gold quality
colonic mucosa	UBERON:0000317	97.28	gold quality
rectum	UBERON:0001052	96.32	gold quality
esophagus squamous epithelium	UBERON:0006920	96.20	gold quality
epithelium of bronchus	UBERON:0002031	95.99	gold quality
bronchus	UBERON:0002185	95.84	gold quality
palpebral conjunctiva	UBERON:0001812	95.78	gold quality
squamous epithelium	UBERON:0006914	95.63	gold quality
gingival epithelium	UBERON:0001949	95.41	gold quality
pylorus	UBERON:0001166	95.24	gold quality
right uterine tube	UBERON:0001302	94.93	gold quality
gingiva	UBERON:0001828	94.85	gold quality
epithelium of esophagus	UBERON:0001976	94.55	gold quality
duodenum	UBERON:0002114	94.40	gold quality
nasal cavity epithelium	UBERON:0005384	94.38	gold quality
islet of Langerhans	UBERON:0000006	94.29	gold quality
oral cavity	UBERON:0000167	94.18	gold quality
cervix squamous epithelium	UBERON:0006922	93.67	gold quality
epithelium of nasopharynx	UBERON:0001951	93.55	gold quality
tongue squamous epithelium	UBERON:0006919	93.37	gold quality
oviduct epithelium	UBERON:0004804	93.35	gold quality
gall bladder	UBERON:0002110	93.14	gold quality
body of pancreas	UBERON:0001150	93.13	gold quality
pancreas	UBERON:0001264	92.89	gold quality
epithelial cell of pancreas	CL:0000083	92.79	gold quality
saliva-secreting gland	UBERON:0001044	92.64	gold quality
nasal cavity mucosa	UBERON:0001826	92.24	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-75367	yes	131.44
E-ANND-3	yes	11.88
E-MTAB-7303	no	8.51

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NRF1, TFAP2A

miRNA regulators (miRDB)

145 targeting GALNT3, 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-9-5P	100.00	72.28	2361
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-574-5P	100.00	66.01	989
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-8485	100.00	77.57	4731
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-548AJ-3P	99.96	73.38	5345

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• N-acetylgalactosaminyl transferase-3 is a potential new marker for non-small cell lung cancers. (PMID:12232759)
• the expression of GalNAc-T3 is associated with the differentiation and aggressiveness of ductal adenocarcinoma of the pancreas (PMID:14555840)
• Low expression of GalNAc-T3 was associated with poorly differentiated tumor, poor pathologic stage, lymph node metastasis, and tumour recurrence in lung adenocarcinoma (PMID:14735190)
• In gallbladder cancer, the presence of diffuse-type localization of GalNAc-T3 in the subserosal layer is correlated with aggressiveness of the diseases. (PMID:15041730)
• mapped the gene underlying familial tumoral calcinosis to 2q24-q31.This region includes the gene GALNT3. Sequence analysis of GALNT3 identified biallelic deleterious mutations, suggesting defective post-translational modification. (PMID:15133511)
• GalNAc-T3 may play a positive role in the process of carcinogenesis and progression in esophageal squamous cell carcinoma (SCC) and functional inhibition of GalNAc-T3 may be effective for the prevention and treatment of esophageal SCC. (PMID:15860931)
• GalNAc-T3 selectively directs O-glycosylation in a subtilisin-like proprotein convertase recognition sequence motif, which blocks processing of FGF23 (PMID:16638743)
• Calcinosis presenting with eyelid calcifications due to novel missense mutations in GALNT3. (PMID:16940445)
• mutation analyses of GALNT3 in a subject with hyperphosphatemic familial tumoral calcinosis and in his relatives; first report describing the simultaneous presence of two different stop codons in the coding sequence of the GALNT3 gene (PMID:17351710)
• Extra hepatic bile duct carcinomas alter their GalNAc-T3 expression during tumor growth, and the difference in the expression pattern may be associated with lymph node metastasis. (PMID:17361208)
• we have detected novel GALNT3 mutations that result in familial TC, and show that disturbed serum FGF23 concentrations are present in our TC cases (PMID:17853462)
• study identified a Beninese family in which two brothers present Familial Tumoral Calcinosis caused by a homozygous A>T transversion at the acceptor splice site in intron 1 of the GALNT3 gene (PMID:18618993)
• decreased GALNT3 expression in skin fibroblasts leads to increased expression of FGF7 and of matrix metalloproteinases, which have been previously implicated in the pathogenesis of ectopic calcification (PMID:18976705)
• Mutations in the UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase-3 (GALNT3) and fibroblast growth factor-23 (FGF23) genes have been described in tumoral calcinosis. (PMID:19411468)
• The genetic predisposition to calcinosis and hyperostosis-hyperphosphataemia syndrome due to missense mutations in GALNT3 protein. (PMID:19830424)
• Mutational analysis of FGF23 and GALNT3 in patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis revealed novel homozygous mutations in GALNT3. (PMID:20358599)
• a novel homozygous missense mutation affecting highly conserved amino acids in GALNT3 in patients with hyperphosphatemic familial tumoral calcinosis (PMID:21347749)
• GALNT3 is associted with bone mineral density variation. (PMID:21533022)
• GalNAc-T3 is likely involved in pancreatic carcinogenesis (PMID:21625220)
• Our data suggest that GalNAc-T3 expression may be a useful indicator of tumor differentiation in thyroid carcinomas. (PMID:23659732)
• N-acetylgalactosaminyltransferases-3 expression independently predicts high-grade tumour and poor prognosis in patients with renal cell carcinomas. (PMID:23799843)
• 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)
• Polymorphisms of rs1863196, rs6710518, rs4667492, rs1349321 and rs6721582 (GALNT3) are associated with bone mineral density.GALNT3 may play a role in genetic susceptibility to postmenopausal osteoporosis in Chinese womeh. (PMID:24045674)
• GalNac transferase transgenic knock-out mice neurons have significantly increased rates of axon degeneration. (PMID:24431446)
• Data are indicative for a strong oncogenic potential of the GALNT3 gene in advanced EOC and identify this transferase as a novel EOC biomarker. (PMID:24504219)
• hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation (PMID:25249269)
• MGAT5 expression is a potential independent adverse prognostic biomarker for recurrence and survival of patients with ccRCC after nephrectomy. (PMID:25630622)
• GalNAc-T3 might play a role in the pathogenesis of early stage oral squamous cell carcinoma recurrence (PMID:26296622)
• Two microRNAs (miRNAs), miR-17-3p and miR-221, which target GalNAc transferase 3 (GALNT3) mRNA, are rapidly downregulated in human alveolar basal epithelial cells during the early stage of influenza A virus infection. (PMID:26637460)
• study supports an essential role of GALNT3 in Epithelial ovarian cancer dissemination, including its implication in modulating post-translational modifications and EOC metabolism (PMID:27095597)
• Study indicates that loss of GALNT3 occurs in poorly differentiated PDAC, which is associated with the increased aggressiveness and altered glycosylation of ErbB family proteins. (PMID:27187683)
• The presence of lectin domain T3lec or T4lec during ppGalNAc-T2 and ppGalNAc-T3 catalytic reaction had a clear inhibitory effect on GalNAc-T activity. (PMID:27738109)
• This study identified GALNT3 as a novel gene that rendered patients susceptible to coronary artery disease (CAD), and the A allele of a disease-associated variant rs4621175 linked reduced CAD risk through decreased GALNT3 expression. (PMID:28453302)
• The acetylated residues on ppGalNAc-T3 function as control points for enzyme activity, and high level of GlcNAc glycosides promote a synergistic regulatory mechanism, leading to a metabolically disordered state. (PMID:28672761)
• Giantin-knockout zebrafish exhibit hyperostosis and ectopic calcium deposits, recapitulating phenotypes of hyperphosphatemic familial tumoral calcinosis, a disease caused by mutations in GALNT3. These data reveal a new feature of Golgi homeostasis: the ability to regulate glycosyltransferase expression to generate a functional proteoglycome. (PMID:29093022)
• Study shows that ZEB2 negatively regulates a GalNAc-transferase (GALNT3) that is involved in O-glycosylation adds another layer of complexity to the role of ZEB2 in cancer progression and metastasis. (PMID:29516288)
• The results highlight a novel mechanistic pathway connecting BRAFV600E to aberrant glycosylation in colorectal cancer through GALNT3. (PMID:29894293)
• GALNT3 gene significantly correlated with osteoporosis and the low expression of GALNT3 gene can promote the occurrence and deterioration of osteoporosis. (PMID:30004557)
• A novel homozygote P85Rfs*6 (c.254_255delCT) mutation in polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) was identified in both siblings. (PMID:30015621)
• GalNAc-T3 was highly expressed by motile spermatozoa and the expression correlated positively with the classical semen parameters. (PMID:30262754)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	GALNT3	ENSDARG00000108649
mus_musculus	Galnt3	ENSMUSG00000026994
rattus_norvegicus	Galnt3	ENSRNOG00000005727
drosophila_melanogaster	Pgant5	FBGN0031681
drosophila_melanogaster	Pgant9	FBGN0050463
caenorhabditis_elegans		WBGENE00001628
caenorhabditis_elegans		WBGENE00001630

Paralogs (19): GALNT16 (ENSG00000100626), GALNTL5 (ENSG00000106648), GALNT7 (ENSG00000109586), GALNT18 (ENSG00000110328), GALNT12 (ENSG00000119514), GALNT8 (ENSG00000130035), GALNT15 (ENSG00000131386), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 3 — Q14435 (reviewed: Q14435)

Alternative names: Polypeptide GalNAc transferase 3, Protein-UDP acetylgalactosaminyltransferase 3, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3

All UniProt accessions (8): C9J2C3, C9J388, C9JW45, C9JXX2, C9JY57, Q14435, E7EUL0, H7BZS4

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 HIV envelope glycoprotein gp120, EA2, MUC2, MUC1A and MUC5AC. Probably glycosylates fibronectin in vivo. Glycosylates FGF23.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal kidney.

Disease relevance. Tumoral calcinosis, hyperphosphatemic, familial, 1 (HFTC1) [MIM:211900] A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. The disease is caused by variants affecting the gene represented in this entry.

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. Essential for glycosylation of FGF23.

Pathway. Protein modification; protein glycosylation.

Miscellaneous. Overexpressed in many differentiated carcinomas, suggesting that it may serve as a marker of tumor differentiation.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q14435-1	1	yes
Q14435-2	2

RefSeq proteins (1): NP_004473* (*=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 (27 total): binding site 7, glycosylation site 3, disulfide bond 3, mutagenesis site 3, topological domain 2, splice variant 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-Q14435-F1	89.88	0.74

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): 519; 522; 536; 541; 277; 279; 415

Disulfide bonds (3): 517–535, 561–574, 605–618

Glycosylation sites (3): 132, 297, 484

Mutagenesis-validated functional residues (3):

Position	Phenotype
277	loss of ability to glycosylate fgf23.
510–633	loss of ability to glycosylate fgf23.
519	loss of ability to glycosylate fgf23.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-190372	FGFR3c ligand binding and activation
R-HSA-5083625	Defective GALNT3 causes HFTC
R-HSA-913709	O-linked glycosylation of mucins

MSigDB gene sets: 387 (showing top): GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, BROWNE_HCMV_INFECTION_8HR_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, REACTOME_SIGNALING_BY_FGFR, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_GROWTH, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, GOBP_MALE_GAMETE_GENERATION, GOBP_CHONDROCYTE_DEVELOPMENT, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_DN, GOBP_REPLACEMENT_OSSIFICATION, GOBP_CHONDROITIN_SULFATE_PROTEOGLYCAN_BIOSYNTHETIC_PROCESS

GO Biological Process (17): endochondral ossification (GO:0001958), chondrocyte development (GO:0002063), polysaccharide metabolic process (GO:0005976), protein O-linked glycosylation (GO:0006493), apoptotic process (GO:0006915), spermatogenesis (GO:0007283), fibroblast growth factor receptor signaling pathway (GO:0008543), gene expression (GO:0010467), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), multicellular organism growth (GO:0035264), cell maturation (GO:0048469), chondroitin sulfate proteoglycan biosynthetic process (GO:0050650), limb development (GO:0060173), carbohydrate metabolic process (GO:0005975), 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 (7): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), calcium ion binding (GO:0005509), manganese ion binding (GO:0030145), carbohydrate binding (GO:0030246), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872)

GO Cellular Component (6): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020), Golgi cisterna membrane (GO:0032580), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
FGFR3 ligand binding and activation	1
Diseases associated with O-glycosylation of proteins	1
O-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell development	2
cytoplasm	2
cellular anatomical structure	2
replacement ossification	1
endochondral bone morphogenesis	1
chondrocyte differentiation	1
carbohydrate metabolic process	1
macromolecule metabolic process	1
glycoprotein biosynthetic process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
developmental process involved in reproduction	1
male gamete generation	1
cell surface receptor protein tyrosine kinase signaling pathway	1
cellular response to fibroblast growth factor stimulus	1
macromolecule biosynthetic process	1
protein O-linked glycosylation	1
multicellular organismal process	1
developmental growth	1
cellular developmental process	1
anatomical structure maturation	1
proteoglycan biosynthetic process	1
chondroitin sulfate proteoglycan metabolic process	1
protein O-linked glycosylation via xylose	1
appendage development	1
primary metabolic process	1
acetylgalactosaminyltransferase activity	1
catalytic activity, acting on a protein	1
metal ion binding	1
transition metal ion binding	1
binding	1
catalytic activity	1
transferase activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1

Protein interactions and networks

STRING

1128 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT3	FGF23	Q9GZV9	952
GALNT3	PHEX	P78562	831
GALNT3	KL	Q9UEF7	819
GALNT3	B4GALNT1	Q00973	813
GALNT3	PTH	P01270	778
GALNT3	CHSY3	Q70JA7	762
GALNT3	SAMD9	Q5K651	710
GALNT3	SLC34A3	Q8N130	662
GALNT3	MUC1	P13931	625
GALNT3	FAM20C	Q8IXL6	619
GALNT3	DMP1	Q13316	609
GALNT3	FGFR1	P11362	582
GALNT3	C1GALT1	Q9NS00	578
GALNT3	FURIN	P09958	566
GALNT3	GCNT3	O95395	534

IntAct

27 interactions, top by confidence:

A	B	Type	Score
RSPRY1	NEFL	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
GALNT3	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.370
SLC15A3		psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
GALNT3	PAPSS1	psi-mi:“MI:0914”(association)	0.350
ZCCHC10	C1orf226	psi-mi:“MI:0914”(association)	0.350
SLC19A1	TAPBP	psi-mi:“MI:0914”(association)	0.350
SLC30A1	PSMD11	psi-mi:“MI:0914”(association)	0.350
SLC30A10	GOLIM4	psi-mi:“MI:0914”(association)	0.350
SLC30A5	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A1	CPD	psi-mi:“MI:0914”(association)	0.350
SLC39A10	CASK	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
SLC39A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC5A3	PGRMC1	psi-mi:“MI:0914”(association)	0.350
SLC7A1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC9A5	NBAS	psi-mi:“MI:0914”(association)	0.350
XPR1	GOLIM4	psi-mi:“MI:0914”(association)	0.350

BioGRID (41): APPBP2 (Two-hybrid), GALNT3 (Two-hybrid), GALNT3 (Affinity Capture-MS), GALNT3 (Affinity Capture-MS), GALNT3 (Affinity Capture-MS), GALNT3 (Affinity Capture-MS), GALNT3 (Affinity Capture-MS), GALNT3 (Proximity Label-MS), GALNT3 (Affinity Capture-RNA), GALNT3 (Affinity Capture-MS), GALNT3 (Affinity Capture-MS), PAPSS1 (Affinity Capture-MS), PDXDC1 (Affinity Capture-MS), GALNT3 (Affinity Capture-MS), GALNT3 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S6M251, A8Y1P7, H0ZAB5, L7YAI7, O43286, O43505, O60513, O60909, O61394, O61397, O88419, P08037, P15291, P15535, P34548, P34678, P70419, Q09323, Q09363, Q14435, Q3YL68, Q5EA01, Q5EA87, Q5QQ54, Q5QQ55, Q5R4S2, Q66HH1, Q6P768, Q6WV17, Q6WV20, Q7K755, Q80WN7, Q80WN8, Q80WN9, Q8BWP8, Q8I136, Q8IA42, Q8MV48, Q8MVS5, Q91YY2

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 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
Metal ion SLC transporters	6	133.6×	4e-10
R-HSA-425366	6	40.3×	2e-07
SLC-mediated transmembrane transport	8	17.5×	3e-07
Transport of small molecules	8	7.5×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	9	191.5×	4e-17
intracellular zinc ion homeostasis	8	116.7×	3e-13

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	48
Likely pathogenic	24
Uncertain significance	203
Likely benign	216
Benign	27

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1074982	NM_004482.4(GALNT3):c.904_910del (p.Val302fs)	Pathogenic
1075230	NC_000002.11:g.(?166605291)(167168266_?)del	Pathogenic
1330194	GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1	Pathogenic
1403790	NM_004482.4(GALNT3):c.1312C>T (p.Arg438Cys)	Pathogenic
1903079	NM_004482.4(GALNT3):c.1546del (p.Leu516fs)	Pathogenic
2012872	NM_004482.4(GALNT3):c.1675G>T (p.Glu559Ter)	Pathogenic
2035823	NM_004482.4(GALNT3):c.712G>T (p.Glu238Ter)	Pathogenic
2089704	NM_004482.4(GALNT3):c.1387_1390delAAAC (p.Gln464fs)	Pathogenic
2203165	NM_004482.4(GALNT3):c.746_749del (p.Val249fs)	Pathogenic
2423909	NC_000002.11:g.(?166605291)(166868812_?)del	Pathogenic
2705779	NM_004482.4(GALNT3):c.695T>A (p.Leu232Ter)	Pathogenic
2710846	NM_004482.4(GALNT3):c.1626+2T>A	Pathogenic
2718445	NM_004482.4(GALNT3):c.1626+2T>C	Pathogenic
2734290	NM_004482.4(GALNT3):c.1102dup (p.Ser368fs)	Pathogenic
2738290	NM_004482.4(GALNT3):c.1669C>T (p.Gln557Ter)	Pathogenic
2748204	NM_004482.4(GALNT3):c.1212del (p.Gln404fs)	Pathogenic
2760117	NM_004482.4(GALNT3):c.1381_1387delinsTGTTGCTGAGTAAGAGGTAGCAGTGAGTGAGCTCTTATGTCTTCCTCATCAATCATTACTTAAAAATCGTAAAGCATGGTTAGGAGAAGACATTTAAGTTTACTCCAATGGGAGAGGACACAAAGTACTCCCCCCGACCCCAAAAATCTTGACTTTGAAGATAGCATTTCTAGTTTTTATTAATCTGAATAAAAGCTTTGAAAATGTGATATGGCTTTAATTTTTTAACTTCAGTTCTTAAAATATGCTGTTTTATCTTGTTTAGTTTTTATAACAAAATTTGACAATGGATTATTTTTCAGAACACCCACTTTTGCAGGAGGACTTTTTTCCATATCAAAAGAATATTTTGAGTATATTGGAAGCTATGATGAAGAAATGGAAATCTGGGGAGGTGAAAATATAGAAATGTCTTTCAGAGTAAGTTTATGGAAATTAAATATAGCAGATATATTAAACAATGAAATATATTGTGTTCTAATCGGCTGGTACATATGATTACAGATGTGTGCACTCTACTTTTTGTGCTTTCTGAAACTTAATTGCTGGAAATTTTGGAATAAGAATATTTTCTTTTAATATGTAACTTAATATATTTATTCATTGTCGCCAGTGTAACAAGAGGAATCAGTTAAACTCCTGTGTCCAGGCAGTAACACCAATTAATGCACTTGTAGCTACTGAATTCCAGCCAAGATAAATATAATTAAATCTAGTGCTTCAGGAAATGAGTTGATCATCAAGGGAGTTAGAATGGAAAAACATTTATGAATAATTTTAAAGGACATTGGACTTAACTGTTTGGACTTACTTT (p.Ile461_Lys463delinsCysCysTer)	Pathogenic
2804579	NM_004482.4(GALNT3):c.14del (p.Lys5fs)	Pathogenic
2805387	NM_004482.4(GALNT3):c.1172dup (p.Asn391fs)	Pathogenic
2815040	NM_004482.4(GALNT3):c.1109del (p.Ile369_Ser370insTer)	Pathogenic
2845598	NM_004482.4(GALNT3):c.1619del (p.Gly540fs)	Pathogenic
2849360	NM_004482.4(GALNT3):c.1728C>A (p.Tyr576Ter)	Pathogenic
2885464	NM_004482.4(GALNT3):c.245dup (p.Gly83fs)	Pathogenic
2891844	NM_004482.4(GALNT3):c.1140T>A (p.Tyr380Ter)	Pathogenic
2993510	NM_004482.4(GALNT3):c.942del (p.Phe314fs)	Pathogenic
3247523	NC_000002.11:g.(?166626676)(166627210_?)del	Pathogenic
3247525	NC_000002.11:g.(?166611117)(166621586_?)del	Pathogenic
3247526	NC_000002.11:g.(?166611117)(166613777_?)del	Pathogenic
3383236	NM_004482.4(GALNT3):c.220A>T (p.Lys74Ter)	Pathogenic
3632266	NM_004482.4(GALNT3):c.86dup (p.Phe30fs)	Pathogenic

SpliceAI

1916 predictions. Top by Δscore:

Variant	Effect	Δscore
2:165749737:GGTAC:G	donor_loss	1.0000
2:165749738:GTAC:G	donor_loss	1.0000
2:165749739:TA:T	donor_loss	1.0000
2:165749740:AC:A	donor_loss	1.0000
2:165749741:CCT:C	donor_loss	1.0000
2:165749890:AAGTA:A	acceptor_gain	1.0000
2:165749891:AGTA:A	acceptor_gain	1.0000
2:165749892:GTA:G	acceptor_gain	1.0000
2:165749893:TA:T	acceptor_gain	1.0000
2:165749893:TACT:T	acceptor_loss	1.0000
2:165749895:C:CC	acceptor_gain	1.0000
2:165749895:C:T	acceptor_loss	1.0000
2:165754923:AATAC:A	donor_loss	1.0000
2:165754924:ATACT:A	donor_loss	1.0000
2:165754925:TAC:T	donor_loss	1.0000
2:165754926:AC:A	donor_loss	1.0000
2:165754927:CTC:C	donor_loss	1.0000
2:165754928:TCA:T	donor_loss	1.0000
2:165754929:CACG:C	donor_loss	1.0000
2:165754930:A:AC	donor_gain	1.0000
2:165754930:A:T	donor_loss	1.0000
2:165754931:C:CA	donor_gain	1.0000
2:165754931:CGT:C	donor_gain	1.0000
2:165754931:CGTA:C	donor_gain	1.0000
2:165754931:CGTAT:C	donor_gain	1.0000
2:165754934:AT:A	donor_gain	1.0000
2:165754935:T:C	donor_gain	1.0000
2:165755060:CTTT:C	acceptor_gain	1.0000
2:165755062:TT:T	acceptor_gain	1.0000
2:165755063:TC:T	acceptor_loss	1.0000

AlphaMissense

4202 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:165757112:A:G	W443R	1.000
2:165757112:A:T	W443R	1.000
2:165757188:A:C	F417L	1.000
2:165757188:A:T	F417L	1.000
2:165757190:A:G	F417L	1.000
2:165757192:A:T	V416D	1.000
2:165757194:A:C	H415Q	1.000
2:165757194:A:T	H415Q	1.000
2:165757195:T:C	H415R	1.000
2:165757196:G:C	H415D	1.000
2:165757196:G:T	H415N	1.000
2:165758754:G:A	S395F	1.000
2:165758765:A:C	N391K	1.000
2:165758765:A:T	N391K	1.000
2:165758769:T:A	E390V	1.000
2:165758777:C:A	W387C	1.000
2:165758777:C:G	W387C	1.000
2:165758779:A:G	W387R	1.000
2:165758779:A:T	W387R	1.000
2:165758841:A:G	L366P	1.000
2:165758847:C:T	G364E	1.000
2:165758850:G:T	A363E	1.000
2:165759392:C:A	W339C	1.000
2:165759392:C:G	W339C	1.000
2:165759394:A:G	W339R	1.000
2:165759394:A:T	W339R	1.000
2:165759398:A:C	F337L	1.000
2:165759398:A:T	F337L	1.000
2:165759400:A:G	F337L	1.000
2:165759412:A:G	W333R	1.000

dbSNP variants (sampled 300 via entrez): RS1000017694 (2:165760216 C>A,G), RS1000172745 (2:165772233 A>G), RS1000261421 (2:165785134 G>A), RS1000321670 (2:165771661 C>T), RS1000369696 (2:165765228 T>A), RS1000529002 (2:165755971 G>A), RS1000538859 (2:165756331 T>C), RS1000562543 (2:165775874 A>T), RS1000616802 (2:165758559 G>A), RS1000672249 (2:165771890 T>G), RS1000711524 (2:165763164 G>C), RS1000749105 (2:165796349 AGAGAGAGT>A), RS1000755110 (2:165756395 T>C,G), RS1000769020 (2:165751197 T>C), RS1000777823 (2:165761720 A>G)

Disease associations

OMIM: gene MIM:601756 | disease phenotypes: MIM:211900

GenCC curated gene-disease

Disease	Classification	Inheritance
tumoral calcinosis, hyperphosphatemic, familial, 1	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
tumoral calcinosis, hyperphosphatemic, familial, 1	Definitive	AR

Mondo (4): tumoral calcinosis, hyperphosphatemic, familial, 1 (MONDO:0100252), Dravet syndrome (MONDO:0100135), developmental and epileptic encephalopathy (MONDO:0100620), (MONDO:0008897)

Orphanet (2): Familial tumoral calcinosis (Orphanet:53715), Dravet syndrome (Orphanet:33069)

HPO phenotypes

19 total (19 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000121	Nephrocalcinosis
HP:0000679	Taurodontia
HP:0000843	Hyperparathyroidism
HP:0001102	Angioid streaks
HP:0002905	Hyperphosphatemia
HP:0003072	Hypercalcemia
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003621	Juvenile onset
HP:0003761	Calcinosis
HP:0003771	Pulp calcification
HP:0004934	Vascular calcification
HP:0005571	Increased renal tubular phosphate reabsorption
HP:0005572	Decreased renal tubular phosphate excretion
HP:0006297	Enamel hypoplasia
HP:0007799	Conjunctival whitish salt-like deposits
HP:0031415	High serum calcitriol
HP:0031485	Subperiosteal bone formation
HP:0100774	Hyperostosis

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001050_9	Bone mineral density	5.000000e-10
GCST001482_10	Lumbar spine bone mineral density	4.000000e-30
GCST002492_6	Bone mineral density (paediatric, lower limb)	5.000000e-07
GCST002494_11	Bone mineral density (paediatric, total body less head)	7.000000e-08
GCST002494_2	Bone mineral density (paediatric, total body less head)	4.000000e-10
GCST002496_10	Bone mineral density (paediatric, upper limb)	1.000000e-08
GCST002496_2	Bone mineral density (paediatric, upper limb)	2.000000e-06
GCST008180_11	Spontaneous preterm birth with premature rupture of membranes	4.000000e-06
GCST90011900_172	Serum alkaline phosphatase levels	3.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006917	spontaneous preterm birth
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523291 (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
5.79	IC50	1610	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	1588075: Inhibition of catalytic activity of ppGalNAcT3 (unknown origin) using EA2 peptide as substrate incubated for 30 mins by HPLC-based enzyme assay	ic50	1.6100	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	6
trichostatin A	increases expression, decreases expression, affects cotreatment	4
mercuric bromide	increases expression, affects cotreatment	2
perfluorooctane sulfonic acid	decreases expression	2
entinostat	increases expression, affects cotreatment	2
belinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
TL8-506	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	decreases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	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
pyrimidifen	decreases expression	1
thifluzamide	decreases expression	1
pyrachlostrobin	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
picoxystrobin	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
Arsenic Trioxide	increases expression	1
Vorinostat	increases expression, affects cotreatment	1
Acetaminophen	increases 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
CHEMBL4386620	Binding	Inhibition of catalytic activity of ppGalNAcT3 (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)

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

Trial	Phase	Status	Title
NCT05044819	PHASE4	ACTIVE_NOT_RECRUITING	Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
NCT06598449	PHASE4	RECRUITING	Assessment of Safety of the Use of Fenfluramine in Children With Dravet Syndrome Under 24 Months of Age
NCT06924827	PHASE4	NOT_YET_RECRUITING	A Study to Investigate the Transition of Children From ‘Artisanal Cannabidiol (CBD) to Epidiolex
NCT07112365	PHASE4	NOT_YET_RECRUITING	The FINTEPLA as an Anti-SUDEP Therapy in Dravet Syndrome Project
NCT00098475	PHASE3	ACTIVE_NOT_RECRUITING	Lenalidomide and Dexamethasone With or Without Thalidomide in Treating Patients With Multiple Myeloma
NCT00114101	PHASE3	ACTIVE_NOT_RECRUITING	Lenalidomide in Treating Patients With Multiple Myeloma Undergoing Autologous Stem Cell Transplant
NCT00644228	PHASE3	ACTIVE_NOT_RECRUITING	Lenalidomide and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Multiple Myeloma
NCT00869206	PHASE3	COMPLETED	Zoledronic Acid in Treating Patients With Metastatic Breast Cancer, Metastatic Prostate Cancer, or Multiple Myeloma With Bone Involvement
NCT02091375	PHASE3	COMPLETED	Antiepileptic Efficacy Study of GWP42003-P in Children and Young Adults With Dravet Syndrome (GWPCARE1)
NCT02174094	PHASE3	WITHDRAWN	Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome
NCT02187809	PHASE3	TERMINATED	Safety and Tolerability of Clobazam as Adjunctive Therapy in Paediatric Patients Aged ≥1 to ≤16 Years With Dravet Syndrome
NCT02224573	PHASE3	COMPLETED	An Open Label Extension Study of Cannabidiol (GWP42003-P) in Children and Adults With Dravet or Lennox-Gastaut Syndromes
NCT02224703	PHASE3	COMPLETED	GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome
NCT02318563	PHASE3	WITHDRAWN	Cannabidiol Oral Solution as an Adjunctive Therapy for Treatment of Participants With Inadequately Controlled Dravet Syndrome
NCT02682927	PHASE3	COMPLETED	A Trial of Two Fixed Doses of ZX008 (Fenfluramine HCl) in Children and Young Adults With Dravet Syndrome
NCT02823145	PHASE3	COMPLETED	An Open-Label Extension Trial to Assess the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride HCl) Oral Solution in Children and Young Adults With Dravet Syndrome
NCT02926898	PHASE3	COMPLETED	A 2-Part Study to Investigate the Dose-Ranging Safety and Pharmacokinetics, Followed by the Efficacy and Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution as an Adjunctive Therapy in Children ≥ 2 Years Old and Young Adults With Dravet Syndrome
NCT03299842	PHASE3	TERMINATED	A Study to Assess the Usability of the Embrace Seizure Detection Watch in Children and Young Adults With Dravet Syndrome
NCT03936777	PHASE3	COMPLETED	A Study to Investigate the Long-Term Safety of ZX008 (Fenfluramine Hydrochloride) Oral Solution in Children and Adults With Epileptic Encephalopathy Including Dravet Syndrome and Lennox-Gastaut Syndrome
NCT04462770	PHASE3	RECRUITING	A Study of EPX-100 (Clemizole Hydrochloride) in Participants With Dravet Syndrome
NCT04611438	PHASE3	UNKNOWN	Research on Cognitive Effect of Cannabidiol on Dravet Syndrome and Lennox-Gastaut SyndromeGastaut Syndrome
NCT04940624	PHASE3	COMPLETED	A Study of Soticlestat as an Add-on Therapy in Children and Young Adults With Dravet Syndrome
NCT05163314	PHASE3	TERMINATED	A Study of Soticlestat as an Add-on Therapy in Children and Adults With Dravet Syndrome or Lennox-Gastaut Syndrome
NCT05560282	PHASE3	TERMINATED	Fenfluramine for Adult Dravet Patients
NCT06118255	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Safety, Tolerability, and Pharmacokinetics of Fenfluramine (Hydrochloride) in Infants 1 Year to Less Than 2 Years of Age With Dravet Syndrome
NCT06422377	PHASE3	TERMINATED	A Study Evaluating Soticlestat in Participants With Dravet Syndrome or Lennox-Gastaut Syndrome Who Have Been Exposed to Fenfluramine
NCT06660394	PHASE3	RECRUITING	A Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS)
NCT06872125	PHASE3	RECRUITING	A Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome
NCT03347526	PHASE3	SUSPENDED	A Novel Approach to Infantile Spasms
NCT03421496	PHASE3	TERMINATED	A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms
NCT06719141	PHASE3	RECRUITING	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
NCT06908226	PHASE3	ENROLLING_BY_INVITATION	A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
NCT00066638	PHASE2	COMPLETED	FR901228 in Treating Patients With Relapsed or Refractory Multiple Myeloma
NCT00088855	PHASE2	COMPLETED	Bortezomib and Pegylated Liposomal Doxorubicin Hydrochloride in Treating Patients With Previously Untreated Symptomatic Multiple Myeloma
NCT00445692	PHASE2	COMPLETED	Lenalidomide, Dexamethasone, and Clarithromycin in Treating Patients Who Have Undergone Stem Cell Transplant for Multiple Myeloma
NCT00839956	PHASE2	COMPLETED	Bortezomib and Vorinostat in Treating Patients With Multiple Myeloma Who Have Undergone Autologous Stem Cell Transplant
NCT01028716	PHASE2	TERMINATED	Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT01251172	PHASE2	WITHDRAWN	RO4929097 After Autologous Stem Cell Transplant in Treating Patients With Multiple Myeloma
NCT01605032	PHASE2	COMPLETED	Busulfan, Melphalan, and Bortezomib Before First-Line Stem Cell Transplant in Treating Patients With Multiple Myeloma
NCT01607073	PHASE2	COMPLETED	Verapamil as Therapy for Children and Young Adults With Dravet Syndrome