Gene Gene information from NCBI Gene database.
Entrez ID 9469
Gene name Carbohydrate sulfotransferase 3
Gene symbol CHST3
Synonyms (NCBI Gene)
C6STC6ST1HSD
Chromosome 10
Chromosome location 10q22.1
Summary 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.
20
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.
515
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603799 1971 ENSG00000122863
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Larsen syndrome Pathogenic rs1589510055 RCV000856732
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepiphyseal dysplasia with congenital joint dislocations Pathogenic; Likely pathogenic rs751470049, rs1003539672, rs2131776376, rs1564532377, rs2131774158, rs200988207, rs756133268, rs1840050989, rs2131776450, rs2131774841, rs1416637363, rs2131773933, rs1378815381, rs1216480002, rs746848315
View all (27 more)
RCV001342483
RCV001806424
RCV001999870
RCV001942043
RCV001972856
View all (38 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATYPICAL FEMORAL FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency BEFREE 11344940, 12050213, 12428206, 18252794, 7962268, 7989489, 8126127, 8284113, 8316254, 8550766, 8923844
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia Pubtator 30200136 Associate
★☆☆☆☆
Found in Text Mining only
Acquired cubitus valgus Cubitus valgus HPO_DG
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30200136
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 8496319
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia BEFREE 21521926
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 12697691
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 18031327
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency HPO_DG
★☆☆☆☆
Found in Text Mining only