Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4166
Gene name Gene Name - the full gene name approved by the HGNC.
Carbohydrate sulfotransferase 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHST6
Synonyms (NCBI Gene) Gene synonyms aliases
C-GlcNAc6ST, GST4-beta, MCDC1, glcNAc6ST-5, gn6st-5, hCGn6ST
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [prov
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28937877 T>C Pathogenic Intron variant, missense variant, coding sequence variant
rs28937878 G>T Pathogenic Intron variant, missense variant, coding sequence variant
rs28937879 A>C Pathogenic Intron variant, missense variant, coding sequence variant
rs72547544 T>C Pathogenic Intron variant, missense variant, coding sequence variant
rs121917822 A>C Pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017806 hsa-miR-335-5p Microarray 18185580
MIRT022612 hsa-miR-124-3p Microarray 18668037
MIRT051817 hsa-let-7c-5p CLASH 23622248
MIRT694366 hsa-miR-766-3p HITS-CLIP 23313552
MIRT694365 hsa-miR-4486 HITS-CLIP 23313552
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 TAS
GO:0001517 Function N-acetylglucosamine 6-O-sulfotransferase activity IBA 21873635
GO:0001517 Function N-acetylglucosamine 6-O-sulfotransferase activity IDA 11278593, 11352640
GO:0001517 Function N-acetylglucosamine 6-O-sulfotransferase activity TAS 11181564
GO:0005794 Component Golgi apparatus TAS 11181564
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605294 6938 ENSG00000183196
Protein
UniProt ID Q9GZX3
Protein name Carbohydrate sulfotransferase 6 (Corneal N-acetylglucosamine-6-O-sulfotransferase) (C-GlcNAc6ST) (hCGn6ST) (EC 2.8.2.21) (Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta) (GST4-beta) (N-acetylglucosamine 6-O-sulfotransferase
Protein function Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan (PubMed:11278593, PubMed:11352640, PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00685 Sulfotransfer_1 40 357 Sulfotransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in cornea. Mainly expressed in brain. Also expressed in spinal cord and trachea. {ECO:0000269|PubMed:11017086, ECO:0000269|PubMed:11181564, ECO:0000269|PubMed:11352640}.
Sequence
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosaminoglycan biosynthesis - keratan sulfate   Keratan sulfate biosynthesis
Defective CHST6 causes MCDC1
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Macular corneal dystrophy Macular corneal dystrophy, Macular corneal dystrophy Type II (disorder), Macular dystrophy, corneal type 1 rs28937877, rs28937878, rs28937879, rs121917822, rs72547544, rs121917826, rs886052321, rs756036451, rs753928736, rs755563003 11017086, 19365571, 15013869, 26604660, 12218059, 14609920, 14735064, 21242781, 11818380, 25081284, 24311932, 15652851, 18500531, 20539220, 12824236
View all (10 more)
Age-related macular degeneration Age related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Amyloidosis Associate 21242781
Carcinoma Renal Cell Associate 33836688, 40149981
Corneal Diseases Associate 14735064, 16568029
Corneal Dystrophies Hereditary Associate 11139648, 14735064, 16568029, 19204788, 19223992, 19365571, 21242781, 24311932, 25081284, 26604660, 27439461, 27829782, 31669782, 34301210, 34645431
View all (3 more)
Corneal dystrophy Avellino type Associate 21887843
Dupuytren Contracture Associate 35627129
Hyaline Fibromatosis Syndrome Associate 21242781
Macular Corneal Dystrophy Type II Associate 17093400, 21242781
Macular dystrophy corneal type 1 Associate 11139648, 17093400, 21242781, 21887843, 27439461
Pancreatic Neoplasms Associate 29074453