Version 5.4
Homo sapiens Gene: AGRN
Summary
InnateDB Gene IDBG-84350.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AGRN
Gene Name agrin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000188157
Encoded Proteins
IDBP-84352
agrin
IDBP-360926
agrin
IDBP-812255
agrin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 1:1020123-1056118
Strand Forward strand
Band p36.33
Transcripts
ENST00000379370 ENSP00000368678
ENST00000419249 ENSP00000400771
ENST00000477585
ENST00000469403
ENST00000479707
ENST00000466223
ENST00000478677
ENST00000492947
ENST00000461111
ENST00000620552 ENSP00000484607
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002162 dystroglycan binding
GO:0005200 structural constituent of cytoskeleton
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:0001523 retinoid metabolic process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006027 glycosaminoglycan catabolic process
GO:0007009 plasma membrane organization
GO:0007165 signal transduction
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway
GO:0007268 synaptic transmission
GO:0007411 axon guidance
GO:0007528 neuromuscular junction development
GO:0007603 phototransduction, visible light
GO:0008582 regulation of synaptic growth at neuromuscular junction
GO:0010469 regulation of receptor activity
GO:0030198 extracellular matrix organization
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0032321 positive regulation of Rho GTPase activity
GO:0043113 receptor clustering
GO:0043525 positive regulation of neuron apoptotic process
GO:0044281 small molecule metabolic process
GO:0045162 clustering of voltage-gated sodium channels
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:0050808 synapse organization
GO:0051491 positive regulation of filopodium assembly
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:0043202 lysosomal lumen
GO:0045202 synapse
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000041936
View Gene Order
ENSBTAG00000013191
Not yet available
Pathways
NETPATH
REACTOME
REACT_13552
Integrin cell surface interactions pathway
REACT_24968
Retinoid metabolism and transport pathway
REACT_121408
A tetrasaccharide linker sequence is required for GAG synthesis pathway
REACT_120752
HS-GAG degradation pathway
REACT_121248
HS-GAG biosynthesis pathway
REACT_18312
NCAM1 interactions pathway
REACT_18334
NCAM signaling for neurite out-growth pathway
REACT_111045
Developmental Biology pathway
REACT_147853
Mucopolysaccharidoses pathway
REACT_200783
Myoclonic epilepsy of Lafora pathway
REACT_118779
Extracellular matrix organization pathway
REACT_267711
Defective B4GALT7 causes EDS, progeroid type pathway
REACT_267713
Defective CHST6 causes MCDC1 pathway
REACT_147719
MPS VI - Maroteaux-Lamy syndrome pathway
REACT_267645
Defective PAPSS2 causes SEMD-PA pathway
REACT_474
Metabolism of carbohydrates pathway
REACT_147749
MPS IIID - Sanfilippo syndrome D pathway
REACT_18266
Axon guidance pathway
REACT_267662
Defective SLC26A2 causes chondrodysplasias pathway
REACT_111102
Signal Transduction pathway
REACT_147739
MPS IX - Natowicz syndrome pathway
REACT_267674
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
REACT_267642
Defective CHST14 causes EDS, musculocontractural type pathway
REACT_121314
Heparan sulfate/heparin (HS-GAG) metabolism pathway
REACT_160102
Diseases associated with visual transduction pathway
REACT_147798
MPS IV - Morquio syndrome B pathway
REACT_163906
ECM proteoglycans pathway
REACT_267659
Defective B3GAT3 causes JDSSDHD pathway
REACT_163874
Non-integrin membrane-ECM interactions pathway
REACT_267708
Defective CHST3 causes SEDCJD pathway
REACT_147825
MPS IV - Morquio syndrome A pathway
REACT_267654
Defective EXT2 causes exostoses 2 pathway
REACT_267707
Diseases associated with glycosaminoglycan metabolism pathway
REACT_147734
MPS II - Hunter syndrome pathway
REACT_267635
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
REACT_160125
Visual phototransduction pathway
REACT_121315
Glycosaminoglycan metabolism pathway
REACT_267705
Diseases of glycosylation pathway
REACT_121206
Chondroitin sulfate/dermatan sulfate metabolism pathway
REACT_147759
MPS VII - Sly syndrome pathway
REACT_267682
Defective CHSY1 causes TPBS pathway
REACT_111217
Metabolism pathway
REACT_147857
MPS I - Hurler syndrome pathway
REACT_147753
MPS IIIA - Sanfilippo syndrome A pathway
REACT_147860
MPS IIIC - Sanfilippo syndrome C pathway
REACT_116125
Disease pathway
REACT_200833
Glycogen storage diseases pathway
REACT_147788
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
hsa04512
ECM-receptor interaction pathway
INOH
INOH website
Integrin signaling pathway pathway
INOH website
Wnt signaling pathway pathway
PID NCI
Cross-References
SwissProt O00468
TrEMBL Q5XG79
UniProt Splice Variant
Entrez Gene 375790
UniGene Hs.273330 Hs.602356 Hs.623478
RefSeq NM_198576 XM_005244749 XM_006710635
HUGO HGNC:329
OMIM 103320
CCDS CCDS30551
HPRD 10550
IMGT
EMBL AB191264 AF016903 AL645608 BC004220 BC007649 BC034009 BC063620 BC084578 U84406
GenPept AAB52917 AAC39776 AAH04220 AAH07649 AAH34009 AAH63620 AAH84578 BAD52440 CAI15575 CAI15576
RNA Seq Atlas 375790

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca