LRP2 (LDL receptor related protein 2)

2007-12-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
DBS,GP330,LRP-2
FUSION GENES

Other Information

Locus ID:

NCBI: 4036
MIM: 600073
HGNC: 6694
Ensembl: ENSG00000081479

Variants:

dbSNP: 4036
ClinVar: 4036
TCGA: ENSG00000081479
COSMIC: LRP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081479ENST00000443831E9PC35
ENSG00000081479ENST00000649046P98164
ENSG00000081479ENST00000649153A0A3B3IT64
ENSG00000081479ENST00000650252A0A3B3IRR0

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Hedgehog signaling pathwayKEGGhsa04340
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
MetabolismREACTOMER-HSA-1430728
Vitamin D (calciferol) metabolismREACTOMER-HSA-196791
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162263534OtotoxicityDiseaseVariantAnnotationassociatedPD23274376
PA445062NeoplasmsDiseaseClinicalAnnotation, VariantAnnotationassociatedPD17457342, 23274376, 31666714
PA449014cisplatinChemicalClinicalAnnotation, VariantAnnotationassociatedPD17457342, 23274376, 31666714

References

Pubmed IDYearTitleCitations
119947452002Megalin and cubilin: multifunctional endocytic receptors.194
156708452005The endocytic receptor megalin binds the iron transporting neutrophil-gelatinase-associated lipocalin with high affinity and mediates its cellular uptake.98
176325122007Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.90
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
174573422008Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin.33
225783272012Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.31
168287342006The role of megalin (LRP-2/Gp330) during development.26
199400342010OCRL1 function in renal epithelial membrane traffic.23
175555322007A cytoplasmic PPPSP motif determines megalin's phosphorylation and regulates receptor's recycling and surface expression.21

Citation

Dessen P

LRP2 (LDL receptor related protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49946/lrp2