B3GAT2 (beta-1,3-glucuronyltransferase 2)

2014-11-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
GLCATS
FUSION GENES

Other Information

Locus ID:

NCBI: 135152
MIM: 607497
HGNC: 922
Ensembl: ENSG00000112309

Variants:

dbSNP: 135152
ClinVar: 135152
TCGA: ENSG00000112309
COSMIC: B3GAT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112309ENST00000230053Q9NPZ5
ENSG00000112309ENST00000615536A0A087WXU9

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
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
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
280116742017Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.8
280116742017Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.8
265454062015Methylated B3GAT2 and ZNF793 Are Potential Detection Biomarkers for Barrett's Esophagus.9
265454062015Methylated B3GAT2 and ZNF793 Are Potential Detection Biomarkers for Barrett's Esophagus.9
209507962011Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.20
209507962011Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.20
209507962011Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.20
209507962011Candidate gene analysis of the human natural killer-1 carbohydrate pathway and perineuronal nets in schizophrenia: B3GAT2 is associated with disease risk and cortical surface area.20
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
168977712006Crystal structure of GlcAT-S, a human glucuronyltransferase, involved in the biosynthesis of the HNK-1 carbohydrate epitope.8
168977712006Crystal structure of GlcAT-S, a human glucuronyltransferase, involved in the biosynthesis of the HNK-1 carbohydrate epitope.8
125226892002Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.5

Citation

Dessen P

B3GAT2 (beta-1,3-glucuronyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60680/cancer-prone-explorer/