CHST6 (carbohydrate sulfotransferase 6)

2014-11-01  

Identity

HGNC
LOCATION
16q23.1
LOCUSID
ALIAS
C-GlcNAc6ST,GST4-beta,MCDC1,glcNAc6ST-5,gn6st-5,hCGn6ST
FUSION GENES

Other Information

Locus ID:

NCBI: 4166
MIM: 605294
HGNC: 6938
Ensembl: ENSG00000183196

Variants:

dbSNP: 4166
ClinVar: 4166
TCGA: ENSG00000183196
COSMIC: CHST6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183196ENST00000332272Q9GZX3
ENSG00000183196ENST00000390664Q9GZX3
ENSG00000183196ENST00000649341Q9GZX3
ENSG00000183196ENST00000649824Q9GZX3

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - keratan sulfateKEGGko00533
Glycosaminoglycan biosynthesis - keratan sulfateKEGGhsa00533
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854

References

Pubmed IDYearTitleCitations
348264172022Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.5
356271292022The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture.2
348264172022Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.5
356271292022The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture.2
346454312021Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.0
346454312021Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty.0
324724222020CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.2
324724222020CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system.2
307167182019A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.4
307167182019A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy.4
274394612016Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.4
278297822016Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.7
274394612016Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.4
278297822016Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.7
266046602015Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutations.5

Citation

Dessen P

CHST6 (carbohydrate sulfotransferase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61824/chst6-(carbohydrate-sulfotransferase-6)