LAMB3
Summary: The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| laminin subunit beta 3 | MIM:150310 | Ensembl:ENSG00000196878 | HGNC:HGNC:6490 | PA30278 | 1q32.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in LAMB3
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | NAS | GO:0005198 | structural molecule activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0044877 | protein-containing complex binding |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IEA | GO:0005610 | laminin-5 complex |
| BP | IEA | GO:0007155 | cell adhesion |
| BP | TAS | GO:0008544 | epidermis development |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | TAS | GO:0031581 | hemidesmosome assembly |
| BP | IEP | GO:0035987 | endodermal cell differentiation |
| BP | IEA | GO:0050873 | brown fat cell differentiation |
Gene expression in normal tissue: LAMB3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LAMB3
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474290 | Collagen formation |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-2022090 | Assembly of collagen fibrils and other multimeric structures |
| reactome | R-HSA-2214320 | Anchoring fibril formation |
| reactome | R-HSA-3000157 | Laminin interactions |
| reactome | R-HSA-3000157 | Laminin interactions |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-446107 | Type I hemidesmosome assembly |
| reactome | R-HSA-446728 | Cell junction organization |
| reactome | R-HSA-6806834 | Signaling by MET |
| reactome | R-HSA-8874081 | MET activates PTK2 signaling |
| reactome | R-HSA-8875878 | MET promotes cell motility |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| biocarta | agrpathway | agrin in postsynaptic differentiation |
| biocarta | prionpathway | prion pathway |
| pid | a6b1_a6b4_integrin_pathway | a6b1 and a6b4 Integrin signaling |
| pid | integrin1_pathway | Beta1 integrin cell surface interactions |
| pid | integrin4_pathway | Alpha6 beta4 integrin-ligand interactions |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04512 | ECM-receptor interaction - Homo sapiens (human) |
| kegg | hsa05145 | Toxoplasmosis - Homo sapiens (human) |
| kegg | hsa05146 | Amoebiasis - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05222 | Small cell lung cancer - Homo sapiens (human) |
| netpath | Pathway_Alpha6Beta4Integrin | Alpha6Beta4Integrin |
| wikipathways | WP244 | Alpha 6 Beta 4 signaling pathway |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LAMB3
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