B3GLCT (beta 3-glucosyltransferase)

2014-11-01  

Identity

HGNC
B3GLCT
LOCATION
13q12.3
LOCUSID
145173
ALIAS
B3GALTL,B3GTL,B3Glc-T,Gal-T,beta3Glc-T
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 145173
MIM: 610308
HGNC: 20207
Ensembl: ENSG00000187676

Variants:

dbSNP: 145173
ClinVar: 145173
TCGA: ENSG00000187676
COSMIC: B3GLCT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187676ENST00000343307Q6Y288

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
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214

References

Pubmed IDYearTitleCitations
340581992021Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.4
346954392021Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.1
340581992021Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.4
346954392021Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.1
322047072020Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.1
322047072020Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.1
270493052016Clinical utility gene card for: Peters plus syndrome.2
270493052016Clinical utility gene card for: Peters plus syndrome.2
255446102015Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.46
255446102015Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.46
238893352014Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.22
238893352014Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.22
239542242013First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.1
239542242013First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.1
227595112012Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.4

Citation

Dessen P

B3GLCT (beta 3-glucosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60679/img/js/lib/welcome