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 |
|---|---|---|---|---|---|
Nameagrin OMIM IDMIM:103320 Ensembl IDEnsembl:ENSG00000188157 HGNC IDHGNC:HGNC:329 PHARMGKB IDPA24626 Map Location1p36.33 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AGRN
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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