Protein Lrp2

URN	urn:agi-llid:4036
Connectivity	229
Name	Lrp2
Description	low density lipoprotein receptor-related protein 2
Notes	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).

Pathway	pancreatic cancer pathway
	Hedgehog signaling pathway

GO Molecular Function	hemoglobin binding
	SH3 domain binding
	calcium ion binding
	receptor activity
	lipoprotein transporter activity

GO Biological Process	cell proliferation
	aging
	forebrain development
	organ regeneration
	endocytosis
	endosome transport
	transcytosis
	hormone secretion
	receptor-mediated endocytosis
	protein amino acid glycosylation
	response to drug
	response to vitamin D
	response to retinoic acid
	response to X-ray
	lipid metabolic process
	vitamin metabolic process
	lipoprotein transport
	hemoglobin import
	negative regulation of endopeptidase activity

Ariadne Ontology	Low-density lipoprotein (LDL) receptor

Group	Low-density lipoprotein (LDL) receptor
	cell proliferation
	aging
	forebrain development
	organ regeneration
	endocytosis
	endosome transport
	transcytosis
	hormone secretion
	receptor-mediated endocytosis
	protein amino acid glycosylation
	response to drug
	response to vitamin D
	response to retinoic acid
	response to X-ray
	lipid metabolic process
	vitamin metabolic process
	lipoprotein transport
	hemoglobin import
	negative regulation of endopeptidase activity
	hemoglobin binding
	SH3 domain binding
	calcium ion binding
	receptor activity
	lipoprotein transporter activity
	apical part of cell
	membrane
	extracellular space
	plasma membrane
	brush border
	cytoplasm
	coated pit
	endosome
	endoplasmic reticulum
	Golgi apparatus
	lysosome
	endocytic vesicle
	membrane fraction
	apical plasma membrane
	integral to membrane
	brush border membrane

MedScan ID	4036

Hugo ID	6694

Human chromosome position	2q24-q31

Alias	DBS
	GP330
	low-density lipoprotein receptor-related protein 2
	LRP-2
	megalin
	glycoprotein 330
	calcium sensor protein
	Heymann nephritis antigen homolog
	AI315343
	AW536255
	D230004K18Rik
	RP23-300E5.2
	OTTMUSP00000014001
	low density lipoprotein receptor-related protein 2
	CG8909-PB
	D230004K18
	LOC360363
	LOC497772
	low density lipoprotein-related protein 2
	low density lipoprotein-related protein II
	Lrp2
	Megalins

OMIM ID	600073
	222448

Mouse chromosome position	2 40.0 cM

Rat chromosome position	3q21

Homologene ID	20952

RGD ID	68407

MGI ID	95794