CHST3 (carbohydrate sulfotransferase 3)

2014-11-01  

Identity

HGNC
CHST3
LOCATION
10q22.1
LOCUSID
9469
ALIAS
C6ST,C6ST1,HSD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9469
MIM: 603799
HGNC: 1971
Ensembl: ENSG00000122863

Variants:

dbSNP: 9469
ClinVar: 9469
TCGA: ENSG00000122863
COSMIC: CHST3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122863ENST00000373115Q7LGC8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Chondroitin sulfate biosynthesisREACTOMER-HSA-2022870

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal 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
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD20038957
PA449383docetaxelChemicalClinicalAnnotationassociatedPD20038957
PA451644thalidomideChemicalClinicalAnnotationassociatedPD20038957

References

Pubmed IDYearTitleCitations
222464362012Persistent cortical plasticity by upregulation of chondroitin 6-sulfation.96
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
183988212008Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients.44
242164802013Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.33
185136792008Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.25
208308042010Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.21
193206542009Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.13
186977462008Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1.4
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3
243002902014Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).3

Citation

Dessen P

CHST3 (carbohydrate sulfotransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61822/chst3-(carbohydrate-sulfotransferase-3)