Mus musculus Gene: Agrn
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
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 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:156165290-156197488
Strand Reverse strand
Band E2
Transcripts
ENSMUST00000071248 ENSMUSP00000071229
ENSMUST00000105575 ENSMUSP00000101200
ENSMUST00000105574 ENSMUSP00000101199
ENSMUST00000154494
ENSMUST00000144749
ENSMUST00000181062
ENSMUST00000180572 ENSMUSP00000137931
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.
Experimentally validated
Total 6 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 5 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002162 dystroglycan binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0030548 acetylcholine receptor regulator activity
GO:0033691 sialic acid binding
GO:0035374 chondroitin sulfate binding
GO:0043236 laminin binding
GO:0043395 heparan sulfate proteoglycan binding
Biological Process
GO:0001934 positive regulation of protein phosphorylation
GO:0007009 plasma membrane organization
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway
GO:0007268 synaptic transmission
GO:0007275 multicellular organismal development
GO:0007528 neuromuscular junction development
GO:0008582 regulation of synaptic growth at neuromuscular junction
GO:0010469 regulation of receptor activity
GO:0030154 cell differentiation
GO:0032092 positive regulation of protein binding
GO:0032314 regulation of Rac GTPase activity
GO:0032321 positive regulation of Rho GTPase activity
GO:0043113 receptor clustering
GO:0043525 positive regulation of neuron apoptotic process
GO:0045213 neurotransmitter receptor metabolic process
GO:0045887 positive regulation of synaptic growth at neuromuscular junction
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051491 positive regulation of filopodium assembly
GO:2000541 positive regulation of protein geranylgeranylation
Cellular Component
GO:0005576 extracellular region
GO:0005604 basement membrane
GO:0005605 basal lamina
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0031012 extracellular matrix
GO:0045202 synapse
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
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
KEGG
ECM-receptor interaction pathway
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
KEGG
ECM-receptor interaction pathway
INOH
Integrin signaling pathway pathway
Wnt signaling pathway pathway
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