mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CD46
Gene summary
Basic gene Info.Gene symbolCD46
Gene nameCD46 molecule, complement regulatory protein
SynonymsAHUS2|MCP|MIC10|TLX|TRA2.10
CytomapUCSC genome browser: 1q32
Type of geneprotein-coding
RefGenesNM_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,
DescriptionCD46 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 date20141219
dbXrefs MIM : 120920
HGNC : HGNC
Ensembl : ENSG00000117335
HPRD : 00406
Vega : OTTHUMG00000036397
ProteinUniProt: P15529
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CD46
BioGPS: 4179
PathwayNCI Pathway Interaction Database: CD46
KEGG: CD46
REACTOME: CD46
Pathway Commons: CD46
ContextiHOP: CD46
ligand binding site mutation search in PubMed: CD46
UCL Cancer Institute: CD46
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0008593regulation of Notch signaling pathway23086448
GO:0010629negative regulation of gene expression23086448
GO:0032613interleukin-10 production23086448
GO:0032733positive regulation of interleukin-10 production12540904
GO:0035581sequestering of extracellular ligand from receptor23086448
GO:0042102positive regulation of T cell proliferation12540904
GO:0043382positive regulation of memory T cell differentiation12540904
GO:0045591positive regulation of regulatory T cell differentiation12540904
GO:0071636positive regulation of transforming growth factor beta production12540904


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Ligand binding site mutations for CD46

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D92A93TUCEC1
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.
LBSAAchange of nsSNVRelative stability change
D92A93T-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)
* Left PPI network was created from samples with mutations in the LBS of CD46 and the right PPI network was created from samples without mutations in the LBS of CD46. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CD46
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025007Measles38Biomarker, GeneticVariation
umls:C2931788Atypical Hemolytic Uremic Syndrome30Biomarker, GeneticVariation
umls:C2752040HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 24GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CD46 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of CD46
Multiple alignments for P15529 in multiple species
LBSAA sequence# speciesSpecies
A110PLNGQAVPANG1Homo sapiens
A110PSFGKVYYIDG1Mus musculus
A110PSFGKVHYIDG1Rattus norvegicus
D104CTMLQDPSFGK2Mus musculus, Rattus norvegicus
D104CPYIRDPLNGQ1Homo sapiens
D91WLPVSDDACYR1Homo sapiens
D91WVPISDAGCIK1Mus musculus
D91WVPISDHGCIK1Rattus norvegicus
D92LPVSDDACYRE1Homo sapiens
D92VPISDAGCIKV1Mus musculus
D92VPISDHGCIKV1Rattus norvegicus


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