Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 4,228 | 731 | 3,439 |
| Samples | 2,626 | 482 | 2,102 |
| Peptides | 2,327 | 388 | 2,005 |
Function
LRP2 · LDL receptor related protein 2
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].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 2290 amino-acid changes on canonical ENST00000649046 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in LRP2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in LRP2 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 9/40 22% | 0/0 0% |
| Melanoma | 39/210 19% | 333/1899 18% |
| Endometrial Carcinoma | 22/42 52% | 84/612 14% |
| T-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 75/304 25% | 143/1390 10% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 97/810 12% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Glioblastoma | 11/98 11% | 0/0 0% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Colorectal Carcinoma | 43/143 30% | 256/3239 8% |
| Gastric Carcinoma | 14/74 19% | 150/1809 8% |
| Other Solid Cancers | 15/94 16% | 111/1515 7% |
| Neuroendocrine Tumour | 39/154 25% | 18/577 3% |
| Cervical Carcinoma | 5/35 14% | 30/422 7% |
| Bladder Carcinoma | 2/58 3% | 59/956 6% |
| Other Sarcomas | 14/69 20% | 30/699 4% |
| Germ Cell Tumour | 6/25 24% | 4/169 2% |
| Head and Neck Carcinoma | 10/85 12% | 75/1574 5% |
| Hodgkins Lymphoma | 2/16 12% | 5/122 4% |
| Ovarian Carcinoma | 18/109 17% | 37/998 4% |
| Esophageal Carcinoma | 3/23 13% | 36/769 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Small Cell Lung Carcinoma | 3/9 33% | 31/752 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Hepatocellular Carcinoma | 9/46 20% | 81/2210 4% |
| Biliary Tract Carcinoma | 3/54 6% | 36/950 4% |
| Acute Monocytic Leukemia | 1/1 100% | 0/25 0% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 95/2550 4% |
| Osteosarcoma | 6/45 13% | 2/166 1% |
| Glioma | 4/52 8% | 78/2127 4% |
Mutation Distribution
Where LRP2 is mutated · all tissues, split by cell line vs tissue
How many mutations in LRP2 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 4,228 mutations in LRP2
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|