Mus musculus Gene: Ext2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-192652.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Ext2 | ||||||||||||||||||||||
Gene Name | exostoses (multiple) 2 | ||||||||||||||||||||||
Synonyms | AI893565 | ||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Gene | ENSMUSG00000027198 | ||||||||||||||||||||||
Encoded Proteins |
exostoses (multiple) 2
exostoses (multiple) 2
exostoses (multiple) 2
exostoses (multiple) 2
exostoses (multiple) 2
exostoses (multiple) 2
exostoses (multiple) 2
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000151348:
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 2:93661028-93822568 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | E1 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 20 interaction(s) predicted by orthology.
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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
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Glycosaminoglycan metabolism pathway
Disease pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Diseases of glycosylation pathway
Defective CHSY1 causes TPBS pathway
Defective B3GAT3 causes JDSSDHD pathway
MPS II - Hunter syndrome pathway
Diseases associated with glycosaminoglycan metabolism pathway
HS-GAG biosynthesis pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IX - Natowicz syndrome pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Defective CHST3 causes SEDCJD pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
MPS IIIB - Sanfilippo syndrome B pathway
MPS IIIA - Sanfilippo syndrome A pathway
Defective PAPSS2 causes SEMD-PA pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Mucopolysaccharidoses pathway
Defective CHST6 causes MCDC1 pathway
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Defective EXT2 causes exostoses 2 pathway
Defective SLC26A2 causes chondrodysplasias pathway
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KEGG |
Glycosaminoglycan biosynthesis pathway
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
HS-GAG biosynthesis 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
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 |
Glycosaminoglycan biosynthesis pathway
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INOH | |||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | A2AIG6 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 14043 | ||||||||||||||||||||||
UniGene | Mm.483078 Mm.483715 | ||||||||||||||||||||||
RefSeq | NM_010163 XM_006498730 XM_006498731 XM_006498732 XM_006498733 | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS16456 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
MGI ID | MGI:108050 | ||||||||||||||||||||||
MGI Symbol | Ext2 | ||||||||||||||||||||||
EMBL | AL732472 AL732493 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 14043 | ||||||||||||||||||||||