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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for LRP2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID4036
Official gene symbolLRP2
Full namelow density lipoprotein receptor-related protein 2
Aliases,DBS,GP330,
Gene summaryThe protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).
LocationChromosome: 2   Locus: 2q24-q31
Gene position170219122 - 169983619  Map Viewer
Gene orientationminus
Gene size235504 bp
Gene sequence
OMIM ID600073