CHST14 (carbohydrate sulfotransferase 14)

2014-11-01  

Identity

HGNC
CHST14
LOCATION
15q15.1
LOCUSID
113189
ALIAS
ATCS,D4ST1,EDSMC1,HNK1ST
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 113189
MIM: 608429
HGNC: 24464
Ensembl: ENSG00000169105

Variants:

dbSNP: 113189
ClinVar: 113189
TCGA: ENSG00000169105
COSMIC: CHST14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169105ENST00000306243Q8NCH0
ENSG00000169105ENST00000559991H0YN65

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGko00532
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGhsa00532
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
Dermatan sulfate biosynthesisREACTOMER-HSA-2022923

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
pituitary gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
205335282010Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.35
200047622009Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.32
128470912003Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis.26
208427342010Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.20
196611642009Dermatan 4-O-sulfotransferase 1 is pivotal in the formation of iduronic acid blocks in dermatan sulfate.18
114707972001Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase.17
263736982016The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.14
266466002016CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.11
225814682012Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.7
282388102017Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.6

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)