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Gene: LRP2 (LDL receptor related protein 2) Homo sapiens
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Symbol: LRP2
Name: LDL receptor related protein 2
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium sensor protein; DBS; glycoprotein 330; GP330; Heymann nephritis antigen homolog; low density lipoprotein receptor-related protein 2; low-density lipoprotein receptor-related protein 2; LRP-2; megalin
Orthologs:
Mus musculus (house mouse) : Lrp2 (low density lipoprotein receptor-related protein 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Lrp2 (LDL receptor related protein 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Lrp2 (LDL receptor related protein 2)
Pan paniscus (bonobo/pygmy chimpanzee) : LRP2 (LDL receptor related protein 2)
Canis lupus familiaris (dog) : LRP2 (LDL receptor related protein 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Lrp2 (LDL receptor related protein 2)
Sus scrofa (pig) : LRP2 (LDL receptor related protein 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382169,127,109 - 169,362,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372169,983,619 - 170,219,123 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362169,691,865 - 169,927,368 (-)NCBINCBI36hg18NCBI36
Build 342169,810,367 - 170,044,520NCBI
Celera2163,608,960 - 163,839,028 (-)NCBI
Cytogenetic Map2q31.1NCBI
HuRef2161,880,497 - 162,110,457 (-)NCBIHuRef
CHM1_12169,989,632 - 170,225,372 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on LRP2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 68599
Created: 2001-07-11
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.