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mutLBSgeneDB |
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| Gene summary for LRP6 |
 Gene summary |
| Basic gene Info. | Gene symbol | LRP6 |
| Gene name | low density lipoprotein receptor-related protein 6 | |
| Synonyms | ADCAD2 | |
| Cytomap | UCSC genome browser: 12p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002336.2, | |
| Description | LRP-6low-density lipoprotein receptor-related protein 6 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603507 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000070018 | ||
| HPRD : 04617 | ||
| Vega : OTTHUMG00000168540 | ||
| Protein | UniProt: O75581 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_LRP6 | |
| BioGPS: 4040 | ||
| Pathway | NCI Pathway Interaction Database: LRP6 | |
| KEGG: LRP6 | ||
| REACTOME: LRP6 | ||
| Pathway Commons: LRP6 | ||
| Context | iHOP: LRP6 | |
| ligand binding site mutation search in PubMed: LRP6 | ||
| UCL Cancer Institute: LRP6 | ||
| 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 | GO:0014029 | neural crest formation | 11029007 | GO:0014033 | neural crest cell differentiation | 11029007 | GO:0016055 | Wnt signaling pathway | 16263759 | GO:0044332 | Wnt signaling pathway involved in dorsal/ventral axis specification | 11029007 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 12857724 | GO:0051091 | positive regulation of sequence-specific DNA binding transcription factor activity | 14739301 | GO:0060070 | canonical Wnt signaling pathway | 12121999 | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 19107203 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 11448771 | GO:2000055 | positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification | 15908424 |
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| Ligand binding site mutations for LRP6 |
| 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 | N674 | R675Q | COAD | 3 | W183 | I181M | COAD | 1 | H226 | P225L | COAD | 1 | N284 | P285L | HNSC | 1 | W157 | W157L | LUSC | 1 | E115 | E115D | SKCM | 1 | W242 | S243N | STAD | 1 | F274 | F274V | UCEC | 1 | N674 | R675Q | UCEC | 1 | L33 | R32Q | 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. |
| Clinical information for LRP6 from My Cancer Genome. |
| Low density lipoprotein receptor-related protein 6 (LRP6) is a gene that encodes a transmembrane low-density lipoprotein receptor protein that also functions as a co-receptor with Frizzled family proteins to transduce signals by Wnt proteins. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.Related Pathways: β-catenin/Wnt signaling.Modified: December 4, 2015 |
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| Protein structure related information for LRP6 |
| 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 | W183 | I181M | -1.8583436 | L33 | R32Q | -1.5839786 | N674 | R675Q | -1.4179002 | E115 | E115D | -1.1267947 | W242 | S243N | -1.0354555 | F274 | F274V | -0.85765815 | H226 | P225L | -0.63030036 | N284 | P285L | -0.6273055 | W157 | W157L | -0.26260114 |
| (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 LRP6 from PDB |
| PDB ID | PDB title | PDB structure | 3S2K | Structural basis of Wnt signaling inhibition by Dickkopf binding to LRP5/6. |  |
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| Differential gene expression and gene-gene network for LRP6 |
| 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 LRP6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1970440 | Coronary Artery Disease, Autosomal Dominant 2 | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for LRP6 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of LRP6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ACE,ASN,SER,ASN,ALA,ILE,LYS,ASN,NH2) | 3soq | A | E115 W157 W183 H226 W242 | FUC | ALPHA-L-FUCOPYRANOSE | 3sov | A | L33 F274 | FUC | ALPHA-L-FUCOPYRANOSE | 3sov | A | N284 | FUC | ALPHA-L-FUCOPYRANOSE | 3s2k | A | N674 | III | Peptide ligand (LEU,PRO,ASN,ALA,ILE,GLY,ARG) | 3sov | A | W157 W183 H226 W242 |
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| Conservation information for LBS of LRP6 |
| Multiple alignments for O75581 in multiple species |
| LBS | AA sequence | # species | Species |
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