B4GALT2 (beta-1,4-galactosyltransferase 2)

2007-08-01  

Identity

HGNC
LOCATION
1p34.1
LOCUSID
ALIAS
B4Gal-T2,B4Gal-T3,beta4Gal-T2
FUSION GENES

Other Information

Locus ID:

NCBI: 8704
MIM: 604013
HGNC: 925
Ensembl: ENSG00000117411

Variants:

dbSNP: 8704
ClinVar: 8704
TCGA: ENSG00000117411
COSMIC: B4GALT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117411ENST00000309519O60909
ENSG00000117411ENST00000356836O60909
ENSG00000117411ENST00000372324O60909
ENSG00000117411ENST00000434555O60909

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Galactose metabolismKEGGko00052
N-Glycan biosynthesisKEGGko00510
Other types of O-glycan biosynthesisKEGGko00514
Glycosaminoglycan biosynthesis - keratan sulfateKEGGko00533
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGko00601
Galactose metabolismKEGGhsa00052
N-Glycan biosynthesisKEGGhsa00510
Other types of O-glycan biosynthesisKEGGhsa00514
Glycosaminoglycan biosynthesis - keratan sulfateKEGGhsa00533
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGhsa00601
Metabolic pathwaysKEGGhsa01100
N-glycan biosynthesis, complex typeKEGGhsa_M00075
Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4CerKEGGhsa_M00071
Glycosphingolipid biosynthesis, neolacto-series, LacCer => nLc4CerKEGGM00071
N-glycan biosynthesis, complex typeKEGGM00075
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
N-glycan antennae elongation in the medial/trans-GolgiREACTOMER-HSA-975576
N-Glycan antennae elongationREACTOMER-HSA-975577
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate biosynthesisREACTOMER-HSA-2022854
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166124406platelet reactivityDiseaseVariantAnnotationassociatedPD
PA443796Coronary Artery DiseaseDiseaseVariantAnnotationassociatedPD
PA448497aspirinChemicalVariantAnnotationassociatedPD
PA449053clopidogrelChemicalClinicalAnnotation, VariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
300200152018Beta-1,4-galactosyltransferase 2 c.909C>T gene variant is predictive of on-clopidogrel platelet reactivity.1
300200152018Beta-1,4-galactosyltransferase 2 c.909C>T gene variant is predictive of on-clopidogrel platelet reactivity.1
270048492016Biochemical and functional characterization of glycosylation-associated mutational landscapes in colon cancer.28
270048492016Biochemical and functional characterization of glycosylation-associated mutational landscapes in colon cancer.28
195240172009Site directed processing: role of amino acid sequences and glycosylation of acceptor glycopeptides in the assembly of extended mucin type O-glycan core 2.12
195240172009Site directed processing: role of amino acid sequences and glycosylation of acceptor glycopeptides in the assembly of extended mucin type O-glycan core 2.12
182119202008Identification of beta1,4GalT II as a target gene of p53-mediated HeLa cell apoptosis.8
182119202008Identification of beta1,4GalT II as a target gene of p53-mediated HeLa cell apoptosis.8
174703622007beta4GalT-II increases cisplatin-induced apoptosis in HeLa cells depending on its Golgi localization.1
174703622007beta4GalT-II increases cisplatin-induced apoptosis in HeLa cells depending on its Golgi localization.1
159394042005beta4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal development.7
159394042005beta4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal development.7
155049782004Tumor necrosis factor-alpha in diabetic plasma increases the activity of core 2 GlcNAc-T and adherence of human leukocytes to retinal endothelial cells: significance of core 2 GlcNAc-T in diabetic retinopathy.10
155049782004Tumor necrosis factor-alpha in diabetic plasma increases the activity of core 2 GlcNAc-T and adherence of human leukocytes to retinal endothelial cells: significance of core 2 GlcNAc-T in diabetic retinopathy.10

Citation

Dessen P

B4GALT2 (beta-1,4-galactosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-08-01

Online version: http://atlasgeneticsoncology.org/gene/47673/favicon/js/lib/deep-insight-explorer/