Homo sapiens Gene: B3GNT2 | |||||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||
Genomic Location | Chromosome 2:62196113-62224731 | ||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||
Band | p15 | ||||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||
REACTOME |
O-linked glycosylation of mucins pathway
Keratan sulfate biosynthesis pathway
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
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias 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
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KEGG |
Glycosphingolipid biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
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INOH | |||||||||||||||||||||||||
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 | ||||||||||||||||||||||||