Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9469
Gene name Gene Name - the full gene name approved by the HGNC.
Carbohydrate sulfotransferase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHST3
Synonyms (NCBI Gene) Gene synonyms aliases
C6ST, C6ST1, HSD
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28937593 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121908616 T>C Pathogenic Missense variant, coding sequence variant
rs121908617 C>A,T Pathogenic Synonymous variant, missense variant, coding sequence variant
rs121908618 T>C Pathogenic Missense variant, coding sequence variant
rs121908619 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023379 hsa-miR-122-5p Microarray 17612493
MIRT027845 hsa-miR-98-5p Microarray 19088304
MIRT659521 hsa-miR-519d-5p HITS-CLIP 23824327
MIRT659519 hsa-miR-5695 HITS-CLIP 23824327
MIRT659520 hsa-miR-3663-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001517 Function N-acetylglucosamine 6-O-sulfotransferase activity IBA
GO:0005794 Component Golgi apparatus IEA
GO:0005794 Component Golgi apparatus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603799 1971 ENSG00000122863
Protein
UniProt ID Q7LGC8
Protein name Carbohydrate sulfotransferase 3 (EC 2.8.2.17) (EC 2.8.2.21) (Chondroitin 6-O-sulfotransferase 1) (C6ST-1) (Chondroitin 6-sulfotransferase) (C6ST) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0) (GST-0)
Protein function Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:15215498, PubMed:9714738, PubMed:98838
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00685 Sulfotransfer_1 132 452 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in adult tissues. Expressed in heart, placenta, skeletal muscle and pancreas. Also expressed in various immune tissues such as spleen, lymph node, thymus and appendix. {ECO:0000269|PubMed:9714738}.
Sequence
Sequence length 479
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate   Chondroitin sulfate biosynthesis
Defective CHST3 causes SEDCJD
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Larsen Syndrome larsen syndrome rs1589510055 N/A
Spondyloenchondrodysplasia Spondyloepiphyseal dysplasia with congenital joint dislocations rs1416783446, rs1589509884, rs1564532120, rs121908619, rs121908620, rs1589509307, rs145538723, rs267606733, rs267606732, rs747171013, rs121908616, rs769540174, rs267606734, rs1316347883, rs121908617
View all (2 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Skeletal Dysplasia skeletal dysplasia N/A N/A ClinVar
Spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia congenita N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Achondroplasia Associate 30200136
Back Pain Associate 30747904
Bronchopulmonary Dysplasia Associate 34465876
Carcinoma Hepatocellular Associate 34258170
Cartilage Diseases Associate 36010590
Clubfoot Associate 26572954
Contracture Associate 26572954
COVID 19 Associate 36405703
Desbuquois syndrome Associate 22539336
Disseminated Intravascular Coagulation Associate 30200136