Property Summary

NCBI Gene PubMed Count 9
PubMed Score 6.50
PubTator Score 12.41

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 2.061 0.000
intraductal papillary-mucinous neoplasm ... -1.100 0.010
breast carcinoma 1.100 0.004
atypical teratoid/rhabdoid tumor 1.100 0.000
ovarian cancer 1.700 0.003

Synonym

Accession Q96L58 Q5T7M5 Beta-1,3-GalTase 6
Symbols EDSP2
SEMDJL1
beta3GalT6

Gene

PANTHER Protein Class (2)

Gene RIF (4)

PMID Text
23664118 Genetic association between B3GALT6 and Ehlers-Danlos-syndrome-like connective tissue disorder in 3 families.
23664117 B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAA      1 - 70
ERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAML     71 - 140
AWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYL    141 - 210
PYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHK    211 - 280
QSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP                         281 - 329
//

Text Mined References (9)

PMID Year Title
23664118 2013 Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
23664117 2013 Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11551958 2001 Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).
9892646 1999 A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.