Homo sapiens Protein: LAMC2 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-105295.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | LAMC2 | ||||||||||||||||||||||
Protein Name | laminin, gamma 2 | ||||||||||||||||||||||
Synonyms | B2T; BM600; CSF; EBR2; EBR2A; LAMB2T; LAMNB2; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000264144 | ||||||||||||||||||||||
InnateDB Gene | IDBG-105293 (LAMC2) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
Function | Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Ladsin exerts cell- scattering activity toward a wide variety of cells, including epithelial, endothelial, and fibroblastic cells. {ECO:0000269PubMed:8265624}. | ||||||||||||||||||||||
Subcellular Localization | Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. | ||||||||||||||||||||||
Disease Associations | Epidermolysis bullosa, junctional, Herlitz type (H-JEB) [MIM:226700]: An infantile and lethal form of junctional epidermolysis bullosa, a group of blistering skin diseases characterized by tissue separation which occurs within the dermo- epidermal basement In the Herlitz type, death occurs usually within the first six months of life. Occasionally, children survive to teens. It is marked by bullous lesions at birth and extensive denudation of skin and mucous membranes that may be hemorrhagic. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | The large variant is expressed only in specific epithelial cells of embryonic and neonatal tissues. In 17-week old embryo the small variant is found in cerebral cortex, lung, and distal tubes of kidney, but not in epithelia except for distal tubuli. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000034
Laminin B type IV IPR000742 Epidermal growth factor-like domain IPR002049 EGF-like, laminin IPR009030 Insulin-like growth factor binding protein, N-terminal IPR018031 Laminin B, subgroup |
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PFAM |
PF00052
PF00008 PF00053 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00181
SM00180 SM00281 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13753 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13753 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 3918 | ||||||||||||||||||||||
UniGene | Hs.702528 | ||||||||||||||||||||||
RefSeq | NP_005553 | ||||||||||||||||||||||
HUGO | HGNC:6493 | ||||||||||||||||||||||
OMIM | 150292 | ||||||||||||||||||||||
CCDS | CCDS1352 | ||||||||||||||||||||||
HPRD | 01031 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AL354953 BC113378 CH471067 U31178 U31179 U31180 U31181 U31182 U31183 U31184 U31186 U31187 U31188 U31189 U31190 U31191 U31192 U31193 U31194 U31195 U31196 U31197 U31198 U31199 U31200 U31201 X73902 Z15008 Z15009 | ||||||||||||||||||||||
GenPept | AAC50456 AAC50457 AAI13379 CAA52108 CAA78728 CAA78729 CAH70980 EAW91146 | ||||||||||||||||||||||