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 MBL2
Gene summary
Basic gene Info.Gene symbolMBL2
Gene namemannose-binding lectin (protein C) 2, soluble
CytomapUCSC genome browser: 10q11.2
Type of geneprotein-coding
Descriptioncollectin-1mannan-binding lectinmannose-binding lectin (protein C) 2, soluble (opsonic defect)mannose-binding lectin 2, soluble (opsonic defect)mannose-binding protein C
Modification date20141207
dbXrefs MIM : 154545
Ensembl : ENSG00000165471
HPRD : 01107
Vega : OTTHUMG00000150270
ProteinUniProt: P11226
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MBL2
BioGPS: 4153
PathwayNCI Pathway Interaction Database: MBL2
Pathway Commons: MBL2
ContextiHOP: MBL2
ligand binding site mutation search in PubMed: MBL2
UCL Cancer Institute: MBL2
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0001867complement activation, lectin pathway15148336
GO:0044130negative regulation of growth of symbiont in host15148336
GO:0045087innate immune response23544079
GO:0048525negative regulation of viral process23544079
GO:0050830defense response to Gram-positive bacterium15148336

Ligand binding site mutations for MBL2
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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for MBL2
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
(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 MBL2 from PDB

Differential gene expression and gene-gene network for MBL2
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 MBL2 and the right PPI network was created from samples without mutations in the LBS of MBL2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MBL2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0019693HIV Infections42Biomarker, GeneticVariation
umls:C3714514Infection21AlteredExpression, Biomarker, GeneticVariation
umls:C0151526Premature Birth7Biomarker, GeneticVariation
umls:C0085207Diabetes, Gestational2Biomarker, GeneticVariation
umls:C0005612Birth Weight1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for MBL2
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB01818O3-SulfonylgalactoseSmall molecule
ExperimentalDB01979Methyl alpha-D-mannosideSmall molecule
ExperimentalDB02837O4-SulfonylgalactoseSmall molecule
ExperimentalDB03194Beta-L-Methyl-FucoseSmall molecule
ExperimentalDB03721O-Sialic AcidSmall molecule
ExperimentalDB03879Alpha-L-Methyl-FucoseSmall molecule
ExperimentalDB04091Alpha-L-1-Methyl-FucoseSmall molecule
ExperimentalDB04426Alpha-Methyl-N-Acetyl-D-GlucosamineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MBL2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of MBL2
Multiple alignments for P11226 in multiple species
LBSAA sequence# speciesSpecies
D188FLGITDEKTEG2Homo sapiens, Pan troglodytes
D188FLGITDQRTEN2Rattus norvegicus, Rattus norvegicus
D188YLGITDVRVEG1Mus musculus
D188FLGITDQETEG1Bos taurus
D221AGSDEDCVLLL2Homo sapiens, Pan troglodytes
D221VGSGENCVVLL2Rattus norvegicus, Rattus norvegicus
D221TGDGEDCVVIL1Mus musculus
D221ASPGEHCVTLL1Bos taurus
D233NGKWNDVPCSD3Mus musculus, Rattus norvegicus, Rattus norvegicus
D233NGQWNDVPCST2Homo sapiens, Pan troglodytes
D233DGTWNDIACSA1Bos taurus
E192TDEKTEGQFVD2Homo sapiens, Pan troglodytes
E192TDQRTENVFED2Rattus norvegicus, Rattus norvegicus
E192TDVRVEGSFED1Mus musculus
E192TDQETEGKFVD1Bos taurus
E210YTNWNEGEPNN4Homo sapiens, Rattus norvegicus, Rattus norvegicus, Pan troglodytes
E210YTNWNDGEPNN1Mus musculus
E210YQNWNDGEPNN1Bos taurus
E212NWNEGEPNNAG2Homo sapiens, Pan troglodytes
E212NWNEGEPNNVG2Rattus norvegicus, Rattus norvegicus
E212NWNDGEPNNTG1Mus musculus
E212NWNDGEPNNAS1Bos taurus
E220NAGSDEDCVLL2Homo sapiens, Pan troglodytes
E220NVGSGENCVVL2Rattus norvegicus, Rattus norvegicus
E220NTGDGEDCVVI1Mus musculus
E220NASPGEHCVTL1Bos taurus
N209TYTNWNEGEPN2Homo sapiens, Pan troglodytes
N209RYTNWNEGEPN2Rattus norvegicus, Rattus norvegicus
N209RYTNWNDGEPN1Mus musculus
N209TYQNWNDGEPN1Bos taurus
N214NEGEPNNAGSD2Homo sapiens, Pan troglodytes
N214NEGEPNNVGSG2Rattus norvegicus, Rattus norvegicus
N214NDGEPNNTGDG1Mus musculus
N214NDGEPNNASPG1Bos taurus
N215EGEPNNAGSDE2Homo sapiens, Pan troglodytes
N215EGEPNNVGSGE2Rattus norvegicus, Rattus norvegicus
N215DGEPNNTGDGE1Mus musculus
N215DGEPNNASPGE1Bos taurus
N232KNGQWNDVPCS2Homo sapiens, Pan troglodytes
N232TNGKWNDVPCS2Rattus norvegicus, Rattus norvegicus
N232GNGKWNDVPCS1Mus musculus
N232SDGTWNDIACS1Bos taurus
Q230LLKNGQWNDVP2Homo sapiens, Pan troglodytes
Q230LLTNGKWNDVP2Rattus norvegicus, Rattus norvegicus
Q230ILGNGKWNDVP1Mus musculus
Q230LLSDGTWNDIA1Bos taurus

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