Homo sapiens Gene: B3GNT2
Summary
InnateDB Gene IDBG-53475.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol B3GNT2
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Synonyms B3GN-T2; B3GNT; B3GNT-2; B3GNT1; BETA3GNT; BGnT-2; BGNT2;
Species Homo sapiens
Ensembl Gene ENSG00000170340
Encoded Proteins
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:62196113-62224731
Strand Forward strand
Band p15
Transcripts
ENST00000301998 ENSP00000305595
ENST00000405767 ENSP00000384692
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008378 galactosyltransferase activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0007411 axon guidance
GO:0007608 sensory perception of smell
GO:0008150 biological_process
GO:0016266 O-glycan processing
GO:0018146 keratan sulfate biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0042339 keratan sulfate metabolic process
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
Post-translational protein modification pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
Keratan sulfate biosynthesis pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
O-linked glycosylation of mucins pathway
O-linked glycosylation pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Metabolism of proteins pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan biosynthesis pathway
Glycosphingolipid biosynthesis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NY97
TrEMBL
UniProt Splice Variant
Entrez Gene 10678
UniGene Hs.173203 Hs.644986
RefSeq NM_006577
HUGO HGNC:15629
OMIM 605581
CCDS CCDS1870
HPRD
IMGT
EMBL AB049584 AC093401 AF092051 AF288208 AF288209 AJ006077 AK002009 BC030579 BC047933 CH471053
GenPept AAD09764 AAF97253 AAF97254 AAH30579 AAH47933 AAX93271 BAA92031 BAB21530 CAB91546 EAW99977 EAW99978 EAW99979
RNA Seq Atlas 10678