B3GALT6 Gene

HGNC Family	Glycosyltransferases
Name	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
Description	The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Beta‐1,3‐galactosyltransferase 6 (B3GALT6) is a key glycosyltransferase that catalyzes the addition of a galactose residue during the synthesis of the tetrasaccharide linkage region in proteoglycan biosynthesis. This linkage region is essential for the elongation of glycosaminoglycan (GAG) chains—both chondroitin/dermatan sulfate and heparan sulfate—that are critical for extracellular matrix assembly and connective tissue function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Functional studies have demonstrated that mutations causing loss of B3GALT6 activity lead to impaired priming of GAG synthesis. Such deficiencies result in abnormal proteoglycan formation—evidenced by reduced glycanation of key molecules like decorin—and manifest clinically as connective tissue disorders. These disorders include forms of spondyloepimetaphyseal dysplasia and overlapping variants of Ehlers–Danlos syndrome that affect multiple tissues including skin, bone, cartilage, tendon, and ligament."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, recent work has shown that the activity of B3GALT6 can be modulated by upstream modifications—in particular, Fam20B‐dependent phosphorylation of the initiating xylose residue dramatically enhances the enzyme’s galactosyltransferase activity, thereby functioning as a molecular switch to regulate proper proteoglycan maturation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its central role in extracellular matrix organization and developmental processes, aberrant regulation (including methylation changes) of B3GALT6 is being explored as part of multi‐target diagnostic panels for malignancies such as hepatocellular carcinoma. Although in that setting B3GALT6 serves more as a biomarker rather than a primary causal factor, these findings further highlight the clinical significance of this enzyme in diverse biological contexts.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Fransiska Malfait, Ariana Kariminejad, Tim Van Damme, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.04.016"}], "href": "https://doi.org/10.1016/j.ajhg.2013.04.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23664118"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23664118"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "X Bai, D Zhou, J R Brown, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M107339200"}], "href": "https://doi.org/10.1074/jbc.M107339200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11551958"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11551958"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jianzhong Wen, Junyu Xiao, Meghdad Rahdar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis."}]}, {"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.1417993111"}], "href": "https://doi.org/10.1073/pnas.1417993111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25331875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25331875"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.04.003"}], "href": "https://doi.org/10.1016/j.ajhg.2013.04.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23664117"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23664117"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Tim Van Damme, Xiaomeng Pang, Brecht Guillemyn, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddy234"}], "href": "https://doi.org/10.1093/hmg/ddy234"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29931299"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29931299"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "A Ben-Mahmoud, S Ben-Salem, M Al-Sorkhy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13236"}], "href": "https://doi.org/10.1111/cge.13236"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29443383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29443383"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "A A Vorster, P Beighton, R S Ramesar "}, {"type": "b", "children": [{"type": "t", "text": "Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12413"}], "href": "https://doi.org/10.1111/cge.12413"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24766538"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24766538"}]}]}]}
Synonyms	SEMDJL1, EDSP2, EDSSPD2, BETA3GALT6
Proteins	B3GT6_HUMAN
NCBI Gene ID	126792
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

B3GALT6 has 5,071 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 114 datasets.

Click the + buttons to view associations for B3GALT6 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

B3GALT6 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of B3GALT6 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 B3GALT6 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 B3GALT6 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 B3GALT6 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 B3GALT6 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of B3GALT6 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 B3GALT6 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 B3GALT6 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 B3GALT6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with B3GALT6 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with B3GALT6 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with B3GALT6 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 B3GALT6 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of B3GALT6 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 B3GALT6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with B3GALT6 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing B3GALT6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing B3GALT6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with B3GALT6 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 B3GALT6 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 B3GALT6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with B3GALT6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with B3GALT6 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of B3GALT6 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 B3GALT6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving B3GALT6 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving B3GALT6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with B3GALT6 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with B3GALT6 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 B3GALT6 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 B3GALT6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with B3GALT6 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 B3GALT6 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 B3GALT6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of B3GALT6 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 B3GALT6 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with B3GALT6 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with B3GALT6 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing B3GALT6 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of B3GALT6 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.