Version 5.4
| Homo sapiens Gene: B3GAT2 | |||||||||||
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| Summary | |||||||||||
| InnateDB Gene | IDBG-92148.6 | ||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
| Gene Symbol | B3GAT2 | ||||||||||
| Gene Name | beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) | ||||||||||
| Synonyms | |||||||||||
| Species | Homo sapiens | ||||||||||
| Ensembl Gene | ENSG00000112309 | ||||||||||
| Encoded Proteins |
beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)
beta-1,3-glucuronyltransferase 2
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| Protein Structure | |||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
| Entrez Gene | |||||||||||
| Summary |
The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||||
| Type | Protein coding | ||||||||||
| Genomic Location | Chromosome 6:70856679-70957038 | ||||||||||
| Strand | Reverse strand | ||||||||||
| Band | q13 | ||||||||||
| Transcripts |
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| Interactions | |||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 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 | |||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||
| NETPATH | |||||||||||
| REACTOME |
A tetrasaccharide linker sequence is required for GAG synthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 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
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism 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
Chondroitin sulfate/dermatan sulfate metabolism 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 |
Other types of O-glycan biosynthesis pathway
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| INOH | |||||||||||
| PID NCI | |||||||||||
| Cross-References | |||||||||||
| SwissProt | |||||||||||
| TrEMBL | |||||||||||
| UniProt Splice Variant | |||||||||||
| Entrez Gene | |||||||||||
| UniGene | |||||||||||
| RefSeq | NM_080742 | ||||||||||
| HUGO | |||||||||||
| OMIM | |||||||||||
| CCDS | CCDS4974 | ||||||||||
| HPRD | |||||||||||
| IMGT | |||||||||||
| EMBL | |||||||||||
| GenPept | |||||||||||
| RNA Seq Atlas | |||||||||||