Identity
HGNC
LOCATION
15q15.1
LOCUSID
ALIAS
ATCS,D4ST1,EDSMC1,HNK1ST
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 113189
MIM: 608429
HGNC: 24464
Ensembl: ENSG00000169105
Variants:
dbSNP: 113189
ClinVar: 113189
TCGA: ENSG00000169105
COSMIC: CHST14
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000169105 | ENST00000306243 | Q8NCH0 |
| ENSG00000169105 | ENST00000559991 | H0YN65 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34815299 | 2022 | Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). | 14 |
| 34815299 | 2022 | Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). | 14 |
| 32130795 | 2020 | Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. | 12 |
| 32130795 | 2020 | Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. | 12 |
| 29976758 | 2018 | Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1 form complexes that generate long epimerized 4-O-sulfated blocks. | 17 |
| 30195269 | 2018 | Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). | 10 |
| 29976758 | 2018 | Dermatan sulfate epimerase 1 and dermatan 4-O-sulfotransferase 1 form complexes that generate long epimerized 4-O-sulfated blocks. | 17 |
| 30195269 | 2018 | Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14). | 10 |
| 28238810 | 2017 | Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. | 17 |
| 28238810 | 2017 | Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. | 17 |
| 26373698 | 2016 | The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. | 29 |
| 26646600 | 2016 | CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. | 25 |
| 26373698 | 2016 | The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. | 29 |
| 26646600 | 2016 | CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. | 25 |
| 22581468 | 2012 | Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene. | 12 |
Citation
Dessen P
CHST14 (carbohydrate sulfotransferase 14)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61821/chst14-(carbohydrate-sulfotransferase-14)
