NP_004516.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
low-density lipoprotein receptor-related protein 2
NCBI Official Synonym Full Names
low density lipoprotein receptor-related protein 2
NCBI Official Synonym Symbols
NCBI Protein Information
low-density lipoprotein receptor-related protein 2; LRP-2; megalin; glycoprotein 330; calcium sensor protein; Heymann nephritis antigen homolog
UniProt Protein Name
Low-density lipoprotein receptor-related protein 2
UniProt Synonym Protein Names
Glycoprotein 330; gp330; Megalin
UniProt Synonym Gene Names
UniProt Entry Name
LRP2_HUMAN
NCBI Summary for LRP2
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]
UniProt Comments for LRP2
LRP2: Acts together with cubilin to mediate HDL endocytosis. May participate in regulation of parathyroid- hormone and para-thyroid-hormone-related protein release. Defects in LRP2 are the cause of Donnai-Barrow syndrome (DBS); also known as faciooculoacousticorenal syndrome (FOAR syndrome). DBS is a rare autosomal recessive disorder characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were first described as distinct disorders but the classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in the expression of some features (e.g. agenesis of the corpus callosum and proteinuria), DBS and FOAR are now considered to represent the same entity. Belongs to the LDLR family.
Protein type: Membrane protein, integral; Receptor, misc.; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 2q31.1
Cellular Component: Golgi apparatus; lysosome; brush border membrane; endoplasmic reticulum; endocytic vesicle; lysosomal membrane; apical plasma membrane; plasma membrane; integral to membrane; coated pit; endosome; receptor complex
Molecular Function: protein binding; calcium ion binding; SH3 domain binding
Biological Process: steroid metabolic process; cell proliferation; phototransduction, visible light; receptor-mediated endocytosis; forebrain development; protein amino acid glycosylation; endocytosis; lipid metabolic process; retinoid metabolic process; vitamin D metabolic process
Disease: Donnai-barrow Syndrome
Research Articles on LRP2
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Products associated with anti-LRP2 antibody
Pathways associated with anti-LRP2 antibody
Diseases associated with anti-LRP2 antibody
Organs/Tissues associated with anti-LRP2 antibody
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