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 |
|---|---|---|---|---|---|
OMIM IDMIM:150310 Ensembl IDEnsembl:ENSG00000196878 HGNC IDHGNC:HGNC:6490 PHARMGKB IDPA30278 Map Location1q32.2 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LAMB3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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