CHST14 Gene

HGNC Family	Sulfotransferases
Name	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
Description	This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CHST14, also known as dermatan 4‐O‐sulfotransferase‑1 (D4ST1), is an enzyme that catalyzes the transfer of a sulfate group to the C‑4 hydroxyl of N‑acetylgalactosamine residues in the glycosaminoglycan dermatan sulfate (DS). This modification is critical for forming DS chains with iduronic acid–rich domains that regulate collagen fibril assembly and extracellular matrix integrity. In multiple studies, loss‐of‐function mutations in CHST14 were shown to lead to a near‐complete depletion of DS—in many cases with replacement by chondroitin sulfate—which disrupts normal collagen organization and results in connective tissue fragility. These biochemical disturbances underpin the clinical features observed in patients with musculocontractural Ehlers–Danlos syndrome (mcEDS) and related disorders such as adducted thumb–clubfoot syndrome, where symptoms include joint hypermobility, skin hyperextensibility, and multisystem fragility. Detailed enzymologic analyses have further clarified the substrate specificity and tissue expression of CHST14/D4ST1, confirming its indispensable role in proper DS biosynthesis and highlighting its importance in maintaining both structural and functional aspects of connective tissues. Collectively, these findings underscore CHST14’s role as a key determinant of DS structure and function whose deficiency directly precipitates the phenotypic manifestations of DS‐related Ehlers–Danlos syndromes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21300"}], "href": "https://doi.org/10.1002/humu.21300"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20533528"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20533528"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Munis Dündar, Thomas Müller, Qi Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.11.010"}], "href": "https://doi.org/10.1016/j.ajhg.2009.11.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20004762"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20004762"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Fransiska Malfait, Delfien Syx, Philip Vlummens, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21355"}], "href": "https://doi.org/10.1002/humu.21355"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20842734"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20842734"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "M R Evers, G Xia, H G Kang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase."}]}, {"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.M105848200"}], "href": "https://doi.org/10.1074/jbc.M105848200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11470797"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11470797"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Tadahisa Mikami, Shuji Mizumoto, Naohide Kago, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M306044200"}], "href": "https://doi.org/10.1074/jbc.M306044200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12847091"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12847091"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tomoki Kosho "}, {"type": "b", "children": [{"type": "t", "text": "CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Int (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ped.12878"}], "href": "https://doi.org/10.1111/ped.12878"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26646600"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26646600"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Charlotte K Lautrup, Keng W Teik, Ai Unzaki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Genet Genomic Med (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mgg3.1197"}], "href": "https://doi.org/10.1002/mgg3.1197"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32130795"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32130795"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Takuya Hirose, Shuji Mizumoto, Ayana Hashimoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Glycobiology (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/glycob/cwaa058"}], "href": "https://doi.org/10.1093/glycob/cwaa058"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32601684"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32601684"}]}]}]}
Synonyms	ATCS, D4ST1, EDSMC1
Proteins	CHSTE_HUMAN
NCBI Gene ID	113189
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CHST14 has 5,347 functional associations with biological entities spanning 8 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) extracted from 116 datasets.

Click the + buttons to view associations for CHST14 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CHST14 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 CHST14 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 CHST14 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CHST14 gene relative to other tissues from the Allen Brain Atlas Adult Mouse 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 CHST14 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 CHST14 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 CHST14 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 CHST14 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 CHST14 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 CHST14 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 CHST14 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 CHST14 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CHST14 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CHST14 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CHST14 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 CHST14 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 CHST14 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CHST14 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing CHST14 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CHST14 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CHST14 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CHST14 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 CHST14 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CHST14 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with CHST14 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CHST14 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 CHST14 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving CHST14 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving CHST14 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with CHST14 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 CHST14 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 CHST14 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 CHST14 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CHST14 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 CHST14 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 CHST14 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CHST14 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 CHST14 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with CHST14 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 CHST14 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of CHST14 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.