GALNT3 Gene

HGNC Family	Glycosyltransferases
Name	polypeptide N-acetylgalactosaminyltransferase 3
Description	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. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n GALNT3 encodes a UDP‐N‐acetylgalactosamine:polypeptide N‐acetylgalactosaminyltransferase (GalNAc‐T3) that initiates mucin‐type O‐glycosylation by transferring GalNAc to serine and threonine residues on target proteins. A key physiological substrate is fibroblast growth factor 23 (FGF23), a phosphaturic hormone whose intact secretion critically depends on O‐glycosylation by GalNAc‐T3. This modification protects FGF23 from proteolytic cleavage by subtilisin‐like proprotein convertases, thereby ensuring proper circulating levels required for phosphate homeostasis. Inactivating mutations in GALNT3 lead to defective glycosylation of FGF23, resulting in excessive proteolytic processing, markedly reduced amounts of intact FGF23, and consequent hyperphosphatemia with ectopic calcifications, as seen in familial tumoral calcinosis and hyperostosis‐hyperphosphatemia syndrome"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": ", and."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Moreover, phosphorylation of FGF23 by Fam20C can antagonize the glycosylation by GalNAc‐T3, highlighting a layered posttranslational regulatory mechanism that fine‐tunes FGF23 bioactivity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Genetic studies including a novel mouse model with a loss‐of‐function mutation in GALNT3 further support its role in bone metabolism and regulation of bone mineral density"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "and emphasize that even subtle alterations in GALNT3 activity can have systemic metabolic consequences. In summary, GalNAc‐T3 is essential for the proper O‐glycosylation and secretion of FGF23, thereby ensuring phosphate balance and highlighting its relevance as a potential therapeutic target in disorders of mineral metabolism.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Orit Topaz, Daniel L Shurman, Reuven Bergman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1358"}], "href": "https://doi.org/10.1038/ng1358"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15133511"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15133511"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kentaro Kato, Charlotte Jeanneau, Mads Agervig Tarp, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M602469200"}], "href": "https://doi.org/10.1074/jbc.M602469200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16638743"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16638743"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Shoji Ichikawa, Erik A Imel, Mary L Kreiter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI31330"}], "href": "https://doi.org/10.1172/JCI31330"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17710231"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17710231"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Orit Topaz, Margarita Indelman, Ilana Chefetz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/508069"}], "href": "https://doi.org/10.1086/508069"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16960814"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16960814"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Shoji Ichikawa, Andrea H Sorenson, Anthony M Austin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Endocrinology (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1210/en.2008-0877"}], "href": "https://doi.org/10.1210/en.2008-0877"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19213845"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19213845"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Shoji Ichikawa, Geneviève Baujat, Aksel Seyahi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.33337"}], "href": "https://doi.org/10.1002/ajmg.a.33337"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20358599"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20358599"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Vincent S Tagliabracci, James L Engel, Sandra E Wiley, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1402218111"}], "href": "https://doi.org/10.1073/pnas.1402218111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24706917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24706917"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Emma L Duncan, Patrick Danoy, John P Kemp, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1001372"}], "href": "https://doi.org/10.1371/journal.pgen.1001372"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21533022"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21533022"}]}]}]}
Synonyms	HFTC, GALNAC-T3, HHS, HFTC1
Proteins	GALT3_HUMAN
NCBI Gene ID	2591
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

GALNT3 has 7,616 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 122 datasets.

Click the + buttons to view associations for GALNT3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

GALNT3 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by GALNT3 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GALNT3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of GALNT3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of GALNT3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of GALNT3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of GALNT3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of GALNT3 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GALNT3 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of GALNT3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of GALNT3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of GALNT3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with GALNT3 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with GALNT3 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GALNT3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of GALNT3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of GALNT3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with GALNT3 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with GALNT3 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of GALNT3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing GALNT3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing GALNT3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with GALNT3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with GALNT3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of GALNT3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with GALNT3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with GALNT3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with GALNT3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of GALNT3 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by GALNT3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving GALNT3 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with GALNT3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with GALNT3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with GALNT3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with GALNT3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with GALNT3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at GALNT3 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of GALNT3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of GALNT3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing GALNT3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with GALNT3 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.