LRP2

GENE INFORMATION

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Gene name

LRP2 (HGNC Symbol)

Synonyms

DBS, gp330

Description

Low density lipoprotein receptor-related protein 2 (HGNC Symbol)

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]

Chromosome

2

Cytoband

q31.1

Chromosome location (bp)

169983619 - 170219195

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000081479 (version 75.37)

Entrez gene

4036

UniProt

P98164 (UniProt - Evidence at protein level)

neXtProt

NX_P98164

Antibodypedia

LRP2 antibodies
 

PROTEIN VIEW

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LRP2-001
 
LRP2-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LRP2-001 ENSP00000263816
ENST00000263816
P98164
Show all »
Show » Show » 4655 522 Yes 1
LRP2-005 ENSP00000409813
ENST00000443831
E9PC35
Show all »
Show » Show » 1225 136.2 Yes 0