InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: LRP2

Summary

InnateDB Gene

IDBG-74420.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRP2

Gene Name

low density lipoprotein receptor-related protein 2

Synonyms

DBS; GP330

Species

Homo sapiens

Ensembl Gene

ENSG00000081479

Encoded Proteins

IDBP-74422

low density lipoprotein receptor-related protein 2

IDBP-387336

low density lipoprotein receptor-related protein 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:169127109-169362685

Strand

Reverse strand

Band

q31.1

Transcripts

ENST00000263816	ENSP00000263816
ENST00000443831	ENSP00000409813
ENST00000491228
ENST00000461418
ENST00000493501

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	47 [view]
Protein-Protein	46 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0017124	SH3 domain binding

Biological Process

GO:0001523	retinoid metabolic process
GO:0006486	protein glycosylation
GO:0006629	lipid metabolic process
GO:0006766	vitamin metabolic process
GO:0006897	endocytosis
GO:0006898	receptor-mediated endocytosis
GO:0007603	phototransduction, visible light
GO:0008202	steroid metabolic process
GO:0008283	cell proliferation
GO:0030900	forebrain development
GO:0042359	vitamin D metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005768	endosome
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005903	brush border
GO:0005905	coated pit
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0030139	endocytic vesicle
GO:0031526	brush border membrane
GO:0043235	receptor complex
GO:0045177	apical part of cell
GO:0070062	extracellular vesicular exosome