Identity
HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
DBS,GP330,LRP-2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4036
MIM: 600073
HGNC: 6694
Ensembl: ENSG00000081479
Variants:
dbSNP: 4036
ClinVar: 4036
TCGA: ENSG00000081479
COSMIC: LRP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000081479 | ENST00000443831 | E9PC35 |
| ENSG00000081479 | ENST00000649046 | P98164 |
| ENSG00000081479 | ENST00000649153 | A0A3B3IT64 |
| ENSG00000081479 | ENST00000650252 | A0A3B3IRR0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162263534 | Ototoxicity | Disease | VariantAnnotation | associated | PD | 23274376 | |
| PA445062 | Neoplasms | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | 17457342, 23274376, 31666714 | |
| PA449014 | cisplatin | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 17457342, 23274376, 31666714 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38008818 | 2024 | Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea. | 0 |
| 38771880 | 2024 | Cryo-EM structures elucidate the multiligand receptor nature of megalin. | 0 |
| 38008818 | 2024 | Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea. | 0 |
| 38771880 | 2024 | Cryo-EM structures elucidate the multiligand receptor nature of megalin. | 0 |
| 36750096 | 2023 | Structures of LRP2 reveal a molecular machine for endocytosis. | 7 |
| 36807241 | 2023 | Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. | 4 |
| 36863658 | 2023 | The endocytosis receptor megalin: From bench to bedside. | 3 |
| 36875158 | 2023 | Regulation of Prostate Androgens by Megalin and 25-hydroxyvitamin D Status: Mechanism for High Prostate Androgens in African American Men. | 5 |
| 37406929 | 2023 | Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome. | 1 |
| 37594671 | 2023 | Human parietal epithelial cells (PECs) and proteinuria in lupus nephritis: a role for ClC-5, megalin, and cubilin? | 0 |
| 36750096 | 2023 | Structures of LRP2 reveal a molecular machine for endocytosis. | 7 |
| 36807241 | 2023 | Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. | 4 |
| 36863658 | 2023 | The endocytosis receptor megalin: From bench to bedside. | 3 |
| 36875158 | 2023 | Regulation of Prostate Androgens by Megalin and 25-hydroxyvitamin D Status: Mechanism for High Prostate Androgens in African American Men. | 5 |
| 37406929 | 2023 | Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome. | 1 |
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-(ldl-receptor-related-protein-2)
