Mus musculus Gene: Agrn | |||||||||||||||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||||||||||||||
InnateDB Gene | IDBG-208363.6 | ||||||||||||||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||||||||||||||
Gene Symbol | Agrn | ||||||||||||||||||||||||||||||||||||||
Gene Name | agrin | ||||||||||||||||||||||||||||||||||||||
Synonyms | Agrin; nmf380 | ||||||||||||||||||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||||||||||||||||||
Ensembl Gene | ENSMUSG00000041936 | ||||||||||||||||||||||||||||||||||||||
Encoded Proteins |
agrin
agrin
agrin
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Protein Structure |
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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 ENSG00000188157:
This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. [provided by RefSeq, Aug 2011] |
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Gene Information | |||||||||||||||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||||||||||||||
Genomic Location | Chromosome 4:156165290-156197488 | ||||||||||||||||||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||||||||||||||||||
Band | E2 | ||||||||||||||||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 7 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
Retinoid metabolism and transport pathway
HS-GAG degradation pathway
MPS IV - Morquio syndrome B pathway
MPS IV - Morquio syndrome A pathway
NCAM1 interactions pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
Extracellular matrix organization 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
A tetrasaccharide linker sequence is required for GAG synthesis pathway
HS-GAG biosynthesis pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IX - Natowicz syndrome pathway
Axon guidance pathway
Integrin cell surface interactions pathway
Glycogen storage diseases pathway
MPS VII - Sly syndrome pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Defective CHST3 causes SEDCJD pathway
Developmental Biology pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Visual phototransduction 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
Signal Transduction pathway
Diseases associated with visual transduction 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
NCAM signaling for neurite out-growth pathway
Metabolism of carbohydrates pathway
Defective EXT2 causes exostoses 2 pathway
Defective SLC26A2 causes chondrodysplasias pathway
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KEGG |
ECM-receptor interaction pathway
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INOH | |||||||||||||||||||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||||||||||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||||||||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||||||||||||||||
REACTOME |
Integrin cell surface interactions pathway
Retinoid metabolism and transport pathway
A tetrasaccharide linker sequence is required for GAG synthesis pathway
HS-GAG degradation pathway
HS-GAG biosynthesis pathway
NCAM1 interactions pathway
NCAM signaling for neurite out-growth pathway
Developmental Biology pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Extracellular matrix organization 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
Axon guidance pathway
Defective SLC26A2 causes chondrodysplasias pathway
Signal Transduction 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
Diseases associated with visual transduction pathway
MPS IV - Morquio syndrome B pathway
ECM proteoglycans pathway
Defective B3GAT3 causes JDSSDHD pathway
Non-integrin membrane-ECM interactions 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
Visual phototransduction 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 |
ECM-receptor interaction pathway
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INOH |
Integrin signaling pathway pathway
Wnt signaling pathway pathway
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PID NCI | |||||||||||||||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||||||||||||||
SwissProt | A2ASQ1 | ||||||||||||||||||||||||||||||||||||||
TrEMBL | Q9ERP2 | ||||||||||||||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||||
Entrez Gene | 11603 | ||||||||||||||||||||||||||||||||||||||
UniGene | Mm.273098 Mm.409890 Mm.431676 | ||||||||||||||||||||||||||||||||||||||
RefSeq | XM_006538491 XM_006538492 XM_006538496 NM_021604 XM_006538493 XM_006538494 XM_006538495 | ||||||||||||||||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||||||||||||||||
CCDS | CCDS19060 | ||||||||||||||||||||||||||||||||||||||
HPRD | |||||||||||||||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||||||||||||||
MGI ID | MGI:87961 | ||||||||||||||||||||||||||||||||||||||
MGI Symbol | Agrn | ||||||||||||||||||||||||||||||||||||||
EMBL | AF294811 AL928667 BC150703 | ||||||||||||||||||||||||||||||||||||||
GenPept | AAG02119 AAI50704 CAM14888 CAM14889 CAM14890 | ||||||||||||||||||||||||||||||||||||||
RNA Seq Atlas | 11603 | ||||||||||||||||||||||||||||||||||||||