MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001797

UniProt Annotations

Entry Information
Gene Namelaminin, gamma 2
Protein EntryLAMC2_HUMAN
UniProt IDQ13753
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q13753-1; Sequence=Displayed; Name=Short; IsoId=Q13753-2; Sequence=VSP_003040;
DiseaseEpidermolysis 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.
DomainDomain IV is globular.
DomainThe alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
FunctionBinding 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:0000269|PubMed:8265624}.
MiscellaneousBinds heparin. {ECO:0000250}.
SimilarityContains 1 laminin IV type A domain. {ECO:0000255|PROSITE-ProRule:PRU00458}.
SimilarityContains 8 laminin EGF-like domains. {ECO:0000255|PROSITE-ProRule:PRU00460}.
Subcellular LocationSecreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.
SubunitLaminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Gamma-2 is a subunit of laminin-5 (laminin-332 or epiligrin/kalinin/nicein).
Tissue SpecificityThe 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.
  logo