AGRN


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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
agrinMIM:103320Ensembl:ENSG00000188157HGNC:HGNC:329PA246261p36.33

Gene Categories:

DRUGGABLE GENOME

GO terms in AGRN


Term TypeEvidence TypeGO Term IDGO Des.
CCTASGO:0005576extracellular region
CCTASGO:0005796Golgi lumen
CCIDAGO:0005829cytosol
CCIDAGO:0005886plasma membrane
CCTASGO:0005886plasma membrane
CCIEAGO:0016021integral component of membrane
CCIEAGO:0030054cell junction
CCHDAGO:0031012extracellular matrix
CCIDAGO:0031012extracellular matrix
CCTASGO:0043202lysosomal lumen
CCISSGO:0045202synapse
CCHDAGO:0062023collagen-containing extracellular matrix
CCHDAGO:0062023collagen-containing extracellular matrix
CCTASGO:0062023collagen-containing extracellular matrix
CCHDAGO:0070062extracellular exosome
BPTASGO:0001523retinoid metabolic process
BPTASGO:0006024glycosaminoglycan biosynthetic process
BPTASGO:0006027glycosaminoglycan catabolic process
BPIEAGO:0007010cytoskeleton organization
BPTASGO:0007165signal transduction
BPTASGO:0007213G-protein coupled acetylcholine receptor signaling pathway
BPTASGO:0030198extracellular matrix organization
BPIDAGO:0043113receptor clustering
BPIMPGO:0043113receptor clustering
BPISSGO:0043547positive regulation of GTPase activity
BPTASGO:0045162clustering of voltage-gated sodium channels
BPISSGO:0045887positive regulation of synaptic growth at neuromuscular junction
BPISSGO:0045944positive regulation of transcription by RNA polymerase II
BPTASGO:0050808synapse organization
BPISSGO:0051491positive regulation of filopodium assembly
MFISSGO:0002162dystroglycan binding
MFTASGO:0005200structural constituent of cytoskeleton
MFISSGO:0005509calcium ion binding
MFIPIGO:0005515protein binding
MFISSGO:0033691sialic acid binding
MFISSGO:0035374chondroitin sulfate binding
MFTASGO:0043236laminin binding
MFISSGO:0043395heparan sulfate proteoglycan binding

Gene expression in normal tissue: AGRN

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in AGRN


DatabasePathway IDPathway Des.
wikipathwaysWP2572Primary Focal Segmental Glomerulosclerosis FSGS
wikipathwaysWP4148Splicing factor NOVA regulated synaptic proteins
kegghsa04512ECM-receptor interaction - Homo sapiens (human)
biocartaachpathwayrole of nicotinic acetylcholine receptors in the regulation of apoptosis
biocartaagrpathwayagrin in postsynaptic differentiation
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1630316Glycosaminoglycan metabolism
reactomeR-HSA-1630316Glycosaminoglycan metabolism
reactomeR-HSA-1638091Heparan sulfate/heparin (HS-GAG) metabolism
reactomeR-HSA-1638091Heparan sulfate/heparin (HS-GAG) metabolism
reactomeR-HSA-1643685Disease
reactomeR-HSA-1793185Chondroitin sulfate/dermatan sulfate metabolism
reactomeR-HSA-196854Metabolism of vitamins and cofactors
reactomeR-HSA-1971475A tetrasaccharide linker sequence is required for GAG synthesis
reactomeR-HSA-2022928HS-GAG biosynthesis
reactomeR-HSA-2022928HS-GAG biosynthesis
reactomeR-HSA-2024096HS-GAG degradation
reactomeR-HSA-216083Integrin cell surface interactions
reactomeR-HSA-2187338Visual phototransduction
reactomeR-HSA-3000171Non-integrin membrane-ECM interactions
reactomeR-HSA-3000178ECM proteoglycans
reactomeR-HSA-3000178ECM proteoglycans
reactomeR-HSA-3560782Diseases associated with glycosaminoglycan metabolism
reactomeR-HSA-3560783Defective B4GALT7 causes EDS, progeroid type
reactomeR-HSA-3560801Defective B3GAT3 causes JDSSDHD
reactomeR-HSA-3656237Defective EXT2 causes exostoses 2
reactomeR-HSA-3656253Defective EXT1 causes exostoses 1, TRPS2 and CHDS
reactomeR-HSA-372790Signaling by GPCR
reactomeR-HSA-375165NCAM signaling for neurite out-growth
reactomeR-HSA-3781865Diseases of glycosylation
reactomeR-HSA-388396GPCR downstream signalling
reactomeR-HSA-418594G alpha (i) signalling events
reactomeR-HSA-419037NCAM1 interactions
reactomeR-HSA-422475Axon guidance
reactomeR-HSA-4420332Defective B3GALT6 causes EDSP2 and SEMDJL1
reactomeR-HSA-6806667Metabolism of fat-soluble vitamins
reactomeR-HSA-71387Metabolism of carbohydrates
reactomeR-HSA-71387Metabolism of carbohydrates
reactomeR-HSA-975634Retinoid metabolism and transport

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in AGRN

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