Aliases for LRP2 Gene
External Ids for LRP2 Gene
Previous GeneCards Identifiers for LRP2 Gene
The 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).[provided by RefSeq, Aug 2009]
GeneCards Summary for LRP2 Gene
LRP2 (LDL Receptor Related Protein 2) is a Protein Coding gene. Diseases associated with LRP2 include Donnai-Barrow Syndrome and Dent Disease. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism of fat-soluble vitamins. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is LRP1B.
UniProtKB/Swiss-Prot for LRP2 Gene
Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.