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mutLBSgeneDB |
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| Gene summary for LRP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | LRP2 |
| Gene name | low density lipoprotein receptor-related protein 2 | |
| Synonyms | DBS|GP330 | |
| Cytomap | UCSC genome browser: 2q31.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004525.2, | |
| Description | Heymann nephritis antigen homologLRP-2calcium sensor proteinglycoprotein 330low-density lipoprotein receptor-related protein 2megalin | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 600073 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000081479 | ||
| HPRD : 02509 | ||
| Vega : OTTHUMG00000132179 | ||
| Protein | UniProt: P98164 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_LRP2 | |
| BioGPS: 4036 | ||
| Pathway | NCI Pathway Interaction Database: LRP2 | |
| KEGG: LRP2 | ||
| REACTOME: LRP2 | ||
| Pathway Commons: LRP2 | ||
| Context | iHOP: LRP2 | |
| ligand binding site mutation search in PubMed: LRP2 | ||
| UCL Cancer Institute: LRP2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for LRP2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D1139 | S1138C | LUAD | 1 | W1126 | K1124N | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for LRP2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | W1126 | K1124N | -1.0619532 | D1139 | S1138C | -0.86632384 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for LRP2 from PDB |
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| Differential gene expression and gene-gene network for LRP2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for LRP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1857277 | Donnai-Barrow syndrome | 2 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 2 | Biomarker, GeneticVariation |
| umls:C0042870 | Vitamin D Deficiency | 1 | Biomarker |
| umls:C0005944 | Bone Diseases, Metabolic | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0008073 | Developmental Disabilities | 1 | Biomarker |
| umls:C0015398 | Eye Diseases, Hereditary | 1 | Biomarker |
| umls:C0018784 | Hearing Loss, Sensorineural | 1 | Biomarker |
| umls:C0019284 | Hernia, Diaphragmatic | 1 | Biomarker |
| umls:C0022658 | Kidney Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for LRP2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational|withdrawn | DB00013 | Urokinase | Biotech |  |
| Approved|investigational | DB00030 | Insulin Human | Biotech |  |
| Approved | DB00071 | Insulin Pork | Biotech |  |
| Approved|vet_approved | DB00798 | Gentamicin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of LRP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 2m0p | A | W1126 D1139 |
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| Conservation information for LBS of LRP2 |
| Multiple alignments for P98164 in multiple species |
| LBS | AA sequence | # species | Species | D1129 | KNWVCDTDNDC | 1 | Homo sapiens | D1129 | EQWKCDSDNDC | 1 | Caenorhabditis elegans | D1129 | KEWVCDTDNDC | 1 | Mus musculus | D1129 | KDWVCDTDNDC | 1 | Rattus norvegicus | D1131 | WVCDTDNDCSD | 2 | Mus musculus, Rattus norvegicus | D1131 | WVCDTDNDCGD | 1 | Homo sapiens | D1131 | WKCDSDNDCGD | 1 | Caenorhabditis elegans | D1133 | CDTDNDCSDGS | 2 | Mus musculus, Rattus norvegicus | D1133 | CDTDNDCGDGS | 1 | Homo sapiens | D1133 | CDSDNDCGDGS | 1 | Caenorhabditis elegans | D1139 | CSDGSDEK-NC | 2 | Mus musculus, Rattus norvegicus | D1139 | CGDGSDEK-NC | 1 | Homo sapiens | D1139 | CGDGSDEKLEM | 1 | Caenorhabditis elegans | E1140 | SDGSDEK-NCQ | 2 | Mus musculus, Rattus norvegicus | E1140 | GDGSDEK-NCN | 1 | Homo sapiens | E1140 | GDGSDEKLEMC | 1 | Caenorhabditis elegans | W1126 | CISKNWVCDTD | 1 | Homo sapiens | W1126 | CIPEQWKCDSD | 1 | Caenorhabditis elegans | W1126 | CIPKEWVCDTD | 1 | Mus musculus | W1126 | CIPKDWVCDTD | 1 | Rattus norvegicus |
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