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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| agrin | MIM:103320 | Ensembl:ENSG00000188157 | HGNC:HGNC:329 | PA24626 | 1p36.33 |
Gene Categories:
DRUGGABLE GENOMEGO terms in AGRN
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005796 | Golgi lumen |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030054 | cell junction |
| CC | HDA | GO:0031012 | extracellular matrix |
| CC | IDA | GO:0031012 | extracellular matrix |
| CC | TAS | GO:0043202 | lysosomal lumen |
| CC | ISS | GO:0045202 | synapse |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | TAS | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | TAS | GO:0001523 | retinoid metabolic process |
| BP | TAS | GO:0006024 | glycosaminoglycan biosynthetic process |
| BP | TAS | GO:0006027 | glycosaminoglycan catabolic process |
| BP | IEA | GO:0007010 | cytoskeleton organization |
| BP | TAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0007213 | G-protein coupled acetylcholine receptor signaling pathway |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | IDA | GO:0043113 | receptor clustering |
| BP | IMP | GO:0043113 | receptor clustering |
| BP | ISS | GO:0043547 | positive regulation of GTPase activity |
| BP | TAS | GO:0045162 | clustering of voltage-gated sodium channels |
| BP | ISS | GO:0045887 | positive regulation of synaptic growth at neuromuscular junction |
| BP | ISS | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0050808 | synapse organization |
| BP | ISS | GO:0051491 | positive regulation of filopodium assembly |
| MF | ISS | GO:0002162 | dystroglycan binding |
| MF | TAS | GO:0005200 | structural constituent of cytoskeleton |
| MF | ISS | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0033691 | sialic acid binding |
| MF | ISS | GO:0035374 | chondroitin sulfate binding |
| MF | TAS | GO:0043236 | laminin binding |
| MF | ISS | GO:0043395 | heparan sulfate proteoglycan binding |
Gene expression in normal tissue: AGRN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AGRN
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2572 | Primary Focal Segmental Glomerulosclerosis FSGS |
| wikipathways | WP4148 | Splicing factor NOVA regulated synaptic proteins |
| kegg | hsa04512 | ECM-receptor interaction - Homo sapiens (human) |
| biocarta | achpathway | role of nicotinic acetylcholine receptors in the regulation of apoptosis |
| biocarta | agrpathway | agrin in postsynaptic differentiation |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1630316 | Glycosaminoglycan metabolism |
| reactome | R-HSA-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism |
| reactome | R-HSA-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-1793185 | Chondroitin sulfate/dermatan sulfate metabolism |
| reactome | R-HSA-196854 | Metabolism of vitamins and cofactors |
| reactome | R-HSA-1971475 | A tetrasaccharide linker sequence is required for GAG synthesis |
| reactome | R-HSA-2022928 | HS-GAG biosynthesis |
| reactome | R-HSA-2022928 | HS-GAG biosynthesis |
| reactome | R-HSA-2024096 | HS-GAG degradation |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-2187338 | Visual phototransduction |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-3000178 | ECM proteoglycans |
| reactome | R-HSA-3000178 | ECM proteoglycans |
| reactome | R-HSA-3560782 | Diseases associated with glycosaminoglycan metabolism |
| reactome | R-HSA-3560783 | Defective B4GALT7 causes EDS, progeroid type |
| reactome | R-HSA-3560801 | Defective B3GAT3 causes JDSSDHD |
| reactome | R-HSA-3656237 | Defective EXT2 causes exostoses 2 |
| reactome | R-HSA-3656253 | Defective EXT1 causes exostoses 1, TRPS2 and CHDS |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-3781865 | Diseases of glycosylation |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
| reactome | R-HSA-419037 | NCAM1 interactions |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-4420332 | Defective B3GALT6 causes EDSP2 and SEMDJL1 |
| reactome | R-HSA-6806667 | Metabolism of fat-soluble vitamins |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-975634 | Retinoid metabolism and transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AGRN
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.