Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | LRP2 |
| Gene Name: | LRP2 |
| Protein Full Name: | Low-density lipoprotein receptor-related protein 2 |
| Alias: | Calcium sensor; DBS; Glycoprotein 330; Gp330; Heymann nephritis antigen; Low density lipoprotein-related protein 2; Low-density lipoprotein receptor-related 2; Megalin |
| Mass (Da): | 521958 |
| Number AA: | 4655 |
| UniProt ID: | P98164 |
| Locus ID: | 4036 |
| COSMIC ID: | LRP2 |
| Gene location on chromosome: | 2q24-q31 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19705 |
| Percent of cancer specimens with mutations: | 4.74 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations but no insertions or deletions. |
| Normal role description: | Lipoprotein-related protein 2 (LRP2), or 'megalin', is a multi-ligand endocytic receptor LRP2 protein that is cruicial for the reuptake of numerous ligands, including: lipoproteins, sterols, vitamin-binding proteins, and hormones. It also plas a role in in cell-signalling; its extracellular ligands include: parathyroid horomones and the morphogen sonic hedgehog (Shh), while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Mutations in this gene have been found in multiple neoplasms. |
| Commentary on involvement of protein in cancer: | Acts together with cubilin to mediate HDL endocytosis By similarity. May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release. |