B3GALT6 (beta-1,3-galactosyltransferase 6)

2014-11-01  

Identity

HGNC
B3GALT6
LOCATION
1p36.33
LOCUSID
126792
ALIAS
ALGAZ,EDSP2,EDSSPD2,SEMDJL1,beta3GalT6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 126792
MIM: 615291
HGNC: 17978
Ensembl: ENSG00000176022

Variants:

dbSNP: 126792
ClinVar: 126792
TCGA: ENSG00000176022
COSMIC: B3GALT6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176022ENST00000379198Q96L58

Expression (GTEx)

0
5
10
15
20
25
30
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 - heparan sulfate / heparinKEGGko00534
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfateKEGGhsa00532
Glycosaminoglycan biosynthesis - heparan sulfate / heparinKEGGhsa00534
Metabolic pathwaysKEGGhsa01100
Glycosaminoglycan biosynthesis, linkage tetrasaccharideKEGGhsa_M00057
Glycosaminoglycan biosynthesis, linkage tetrasaccharideKEGGM00057
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Heparan sulfate/heparin (HS-GAG) metabolismREACTOMER-HSA-1638091
A tetrasaccharide linker sequence is required for GAG synthesisREACTOMER-HSA-1971475
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
236641182013Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.27
236641172013Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.22
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
299312992018Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.4
316148622019Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.2
294433832018A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.1

Citation

Dessen P

B3GALT6 (beta-1,3-galactosyltransferase 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60678/b3galt6