Gene: LRP2

Alternate names for this Gene: DBS|GP330|LRP-2

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).

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: LDL receptor related protein 2

Type of Gene: protein-coding

rs142093111 in LRP2 gene and Creatinine measurement, serum (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 29779033 2018 Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs12988804 in LRP2 gene and Disease recurrence PMID 28739605 2017 Genetic variation in the gene LRP2 increases relapse risk in multiple sclerosis.

rs760114690 in LRP2 gene and Donnai-Barrow syndrome PMID 12923867 2003 Donnai-Barrow syndrome: four additional patients.

PMID 17632512 2007 Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

rs147287428 in LRP2 gene and Glomerular Filtration Rate PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 29779033 2018 Genome-Wide Association Study of Renal Function Traits: Results from the Japan Multi-Institutional Collaborative Cohort Study.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 27588450 2016 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

rs200469773 in LRP2 gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs200469773 in LRP2 gene and Kidney Failure, Chronic PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs16856594 in LRP2 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs12988804 in LRP2 gene and Multiple Sclerosis PMID 28739605 2017 In the pooled results, using these three unique longitudinal MS cohorts, we discovered one novel locus (<i>LRP2</i>; most significant single nucleotide polymorphism rs12988804) that reached genome-wide significance in predicting relapse risk (HR=2.18, p=3.30×10<sup>-8</sup>).

rs2075252 in LRP2 gene and Proteinuria PMID 30476138 2019 Sequence variants associating with urinary biomarkers.

rs16856594 in LRP2 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs830948 in LRP2 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2268365 in LRP2 gene and Systolic Pressure PMID 25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.

rs147287428 in LRP2 gene and Uric acid measurement (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs189798425 in LRP2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.