mutLBSgeneDB |
Gene summary for CD46 |
Gene summary |
Basic gene Info. | Gene symbol | CD46 |
Gene name | CD46 molecule, complement regulatory protein | |
Synonyms | AHUS2|MCP|MIC10|TLX|TRA2.10 | |
Cytomap | UCSC genome browser: 1q32 | |
Type of gene | protein-coding | |
RefGenes | NM_002389.4, NM_153826.3,NM_172350.2,NM_172351.2,NM_172352.2, NM_172353.2,NM_172359.2,NM_172361.2,NM_172354.1, NM_172355.1,NM_172356.1,NM_172357.1,NM_172358.1, NM_172360.1, | |
Description | CD46 antigen, complement regulatory proteinantigen identified by monoclonal antibody TRA-2-10complement membrane cofactor proteinmeasles virus receptormembrane cofactor proteinmembrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive ant | |
Modification date | 20141219 | |
dbXrefs | MIM : 120920 | |
HGNC : HGNC | ||
Ensembl : ENSG00000117335 | ||
HPRD : 00406 | ||
Vega : OTTHUMG00000036397 | ||
Protein | UniProt: P15529 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CD46 | |
BioGPS: 4179 | ||
Pathway | NCI Pathway Interaction Database: CD46 | |
KEGG: CD46 | ||
REACTOME: CD46 | ||
Pathway Commons: CD46 | ||
Context | iHOP: CD46 | |
ligand binding site mutation search in PubMed: CD46 | ||
UCL Cancer Institute: CD46 | ||
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:0008593 | regulation of Notch signaling pathway | 23086448 | GO:0010629 | negative regulation of gene expression | 23086448 | GO:0032613 | interleukin-10 production | 23086448 | GO:0032733 | positive regulation of interleukin-10 production | 12540904 | GO:0035581 | sequestering of extracellular ligand from receptor | 23086448 | GO:0042102 | positive regulation of T cell proliferation | 12540904 | GO:0043382 | positive regulation of memory T cell differentiation | 12540904 | GO:0045591 | positive regulation of regulatory T cell differentiation | 12540904 | GO:0071636 | positive regulation of transforming growth factor beta production | 12540904 |
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Ligand binding site mutations for CD46 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | D92 | A93T | 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 CD46 |
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 |
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 | D92 | A93T | -1.0357422 |
(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 CD46 from PDB |
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Differential gene expression and gene-gene network for CD46 |
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 CD46 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0025007 | Measles | 38 | Biomarker, GeneticVariation |
umls:C2931788 | Atypical Hemolytic Uremic Syndrome | 30 | Biomarker, GeneticVariation |
umls:C2752040 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | 4 | GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for CD46 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of CD46 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of CD46 |
Multiple alignments for P15529 in multiple species |
LBS | AA sequence | # species | Species | A110 | PLNGQAVPANG | 1 | Homo sapiens | A110 | PSFGKVYYIDG | 1 | Mus musculus | A110 | PSFGKVHYIDG | 1 | Rattus norvegicus | D104 | CTMLQDPSFGK | 2 | Mus musculus, Rattus norvegicus | D104 | CPYIRDPLNGQ | 1 | Homo sapiens | D91 | WLPVSDDACYR | 1 | Homo sapiens | D91 | WVPISDAGCIK | 1 | Mus musculus | D91 | WVPISDHGCIK | 1 | Rattus norvegicus | D92 | LPVSDDACYRE | 1 | Homo sapiens | D92 | VPISDAGCIKV | 1 | Mus musculus | D92 | VPISDHGCIKV | 1 | Rattus norvegicus |
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