Property Summary

NCBI Gene PubMed Count 20
Grant Count 13
R01 Count 12
Funding $1,656,309.71
PubMed Score 192.41
PubTator Score 74.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
posterior fossa group A ependymoma 1.500 0.000
glioblastoma 1.900 0.000
astrocytoma 1.600 0.001
atypical teratoid / rhabdoid tumor 1.200 0.009
pediatric high grade glioma 1.500 0.000
pilocytic astrocytoma 2.000 0.000
Breast cancer -1.200 0.000
gastric carcinoma -1.300 0.029
invasive ductal carcinoma -1.600 0.004

Gene RIF (12)

PMID Text
24300290 Sequencing of CHST3 detected a previously unreported homozygous duplication c.407_426dup (p.Thr143Cysfs*80). The mutation is predicted to lead to frameshift and introduction of a premature stopcodon.
24216480 expression of CHST3 mRNA was significantly reduced in the intervertebral disc cells of subjects carrying the A allele of rs4148941
22246436 The results of this study indicated that the critical period for cortical plasticity is regulated by the 4S/6S ratio of CSPGs, which determines the maturation of parvalbumin-expressing interneurons.
20830804 Vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance are characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations.
19343046 Observational study of gene-disease association. (HuGE Navigator)
19320654 homozygous missense mutation (T141M) in exon 3 in all three family members with spondyloepiphyseal dysplasia with cardiac involvement
18697746 Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1.
18513679 report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations
18398821 Observational study of gene-disease association. (HuGE Navigator)
16385451 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MEKGLTLPQDCRDFVHSLKMRSKYALFLVFVVIVFVFIEKENKIISRVSDKLKQIPQALADANSTDPALI      1 - 70
LAENASLLSLSELDSAFSQLQSRLRNLSLQLGVEPAMEAAGEEEEEQRKEEEPPRPAVAGPRRHVLLMAT     71 - 140
TRTGSSFVGEFFNQQGNIFYLFEPLWHIERTVSFEPGGANAAGSALVYRDVLKQLFLCDLYVLEHFITPL    141 - 210
PEDHLTQFMFRRGSSRSLCEDPVCTPFVKKVFEKYHCKNRRCGPLNVTLAAEACRRKEHMALKAVRIRQL    211 - 280
EFLQPLAEDPRLDLRVIQLVRDPRAVLASRMVAFAGKYKTWKKWLDDEGQDGLREEEVQRLRGNCESIRL    281 - 350
SAELGLRQPAWLRGRYMLVRYEDVARGPLQKAREMYRFAGIPLTPQVEDWIQKNTQAAHDGSGIYSTQKN    351 - 420
SSEQFEKWRFSMPFKLAQVVQAACGPAMRLFGYKLARDAAALTNRSVSLLEERGTFWVT               421 - 479
//

Text Mined References (19)

PMID Year Title
24300290 2014 Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).
24216480 2013 Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.
22246436 2012 Persistent cortical plasticity by upregulation of chondroitin 6-sulfation.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
20830804 2010 Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19320654 2009 Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
18697746 2008 Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1.
18513679 2008 Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
18398821 2008 Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients.
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