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mutLBSgeneDB |
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| Gene summary for MBL2 |
 Gene summary |
| Basic gene Info. | Gene symbol | MBL2 |
| Gene name | mannose-binding lectin (protein C) 2, soluble | |
| Synonyms | COLEC1|HSMBPC|MBL|MBL2D|MBP|MBP-C|MBP1|MBPD | |
| Cytomap | UCSC genome browser: 10q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000242.2, | |
| Description | collectin-1mannan-binding lectinmannose-binding lectin (protein C) 2, soluble (opsonic defect)mannose-binding lectin 2, soluble (opsonic defect)mannose-binding protein C | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 154545 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000165471 | ||
| HPRD : 01107 | ||
| Vega : OTTHUMG00000150270 | ||
| Protein | UniProt: P11226 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MBL2 | |
| BioGPS: 4153 | ||
| Pathway | NCI Pathway Interaction Database: MBL2 | |
| KEGG: MBL2 | ||
| REACTOME: MBL2 | ||
| Pathway Commons: MBL2 | ||
| Context | iHOP: MBL2 | |
| ligand binding site mutation search in PubMed: MBL2 | ||
| UCL Cancer Institute: MBL2 | ||
| 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:0001867 | complement activation, lectin pathway | 15148336 | GO:0044130 | negative regulation of growth of symbiont in host | 15148336 | GO:0045087 | innate immune response | 23544079 | GO:0048525 | negative regulation of viral process | 23544079 | GO:0050830 | defense response to Gram-positive bacterium | 15148336 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N215 | G217D | LUAD | 1 | Q230 | G229D | 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 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 |
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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 | N215 | G217D | -1.0199873 | Q230 | G229D | -0.75929493 |
| (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 |
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| 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) |
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| Phenotype information for MBL2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0019693 | HIV Infections | 42 | Biomarker, GeneticVariation |
| umls:C3714514 | Infection | 21 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0151526 | Premature Birth | 7 | Biomarker, GeneticVariation |
| umls:C0085207 | Diabetes, Gestational | 2 | Biomarker, GeneticVariation |
| umls:C0005612 | Birth Weight | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System 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 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. |
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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 |
| Experimental | DB01818 | O3-Sulfonylgalactose | Small molecule |  |
| Experimental | DB01979 | Methyl alpha-D-mannoside | Small molecule |  |
| Experimental | DB02837 | O4-Sulfonylgalactose | Small molecule |  |
| Experimental | DB03194 | Beta-L-Methyl-Fucose | Small molecule |  |
| Experimental | DB03721 | O-Sialic Acid | Small molecule |  |
| Experimental | DB03879 | Alpha-L-Methyl-Fucose | Small molecule |  |
| Experimental | DB04091 | Alpha-L-1-Methyl-Fucose | Small molecule |  |
| Experimental | DB04426 | Alpha-Methyl-N-Acetyl-D-Glucosamine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MBL2 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 MBL2 |
| Multiple alignments for P11226 in multiple species |
| LBS | AA sequence | # species | Species | D188 | FLGITDEKTEG | 2 | Homo sapiens, Pan troglodytes | D188 | FLGITDQRTEN | 2 | Rattus norvegicus, Rattus norvegicus | D188 | YLGITDVRVEG | 1 | Mus musculus | D188 | FLGITDQETEG | 1 | Bos taurus | D221 | AGSDEDCVLLL | 2 | Homo sapiens, Pan troglodytes | D221 | VGSGENCVVLL | 2 | Rattus norvegicus, Rattus norvegicus | D221 | TGDGEDCVVIL | 1 | Mus musculus | D221 | ASPGEHCVTLL | 1 | Bos taurus | D233 | NGKWNDVPCSD | 3 | Mus musculus, Rattus norvegicus, Rattus norvegicus | D233 | NGQWNDVPCST | 2 | Homo sapiens, Pan troglodytes | D233 | DGTWNDIACSA | 1 | Bos taurus | E192 | TDEKTEGQFVD | 2 | Homo sapiens, Pan troglodytes | E192 | TDQRTENVFED | 2 | Rattus norvegicus, Rattus norvegicus | E192 | TDVRVEGSFED | 1 | Mus musculus | E192 | TDQETEGKFVD | 1 | Bos taurus | E210 | YTNWNEGEPNN | 4 | Homo sapiens, Rattus norvegicus, Rattus norvegicus, Pan troglodytes | E210 | YTNWNDGEPNN | 1 | Mus musculus | E210 | YQNWNDGEPNN | 1 | Bos taurus | E212 | NWNEGEPNNAG | 2 | Homo sapiens, Pan troglodytes | E212 | NWNEGEPNNVG | 2 | Rattus norvegicus, Rattus norvegicus | E212 | NWNDGEPNNTG | 1 | Mus musculus | E212 | NWNDGEPNNAS | 1 | Bos taurus | E220 | NAGSDEDCVLL | 2 | Homo sapiens, Pan troglodytes | E220 | NVGSGENCVVL | 2 | Rattus norvegicus, Rattus norvegicus | E220 | NTGDGEDCVVI | 1 | Mus musculus | E220 | NASPGEHCVTL | 1 | Bos taurus | N209 | TYTNWNEGEPN | 2 | Homo sapiens, Pan troglodytes | N209 | RYTNWNEGEPN | 2 | Rattus norvegicus, Rattus norvegicus | N209 | RYTNWNDGEPN | 1 | Mus musculus | N209 | TYQNWNDGEPN | 1 | Bos taurus | N214 | NEGEPNNAGSD | 2 | Homo sapiens, Pan troglodytes | N214 | NEGEPNNVGSG | 2 | Rattus norvegicus, Rattus norvegicus | N214 | NDGEPNNTGDG | 1 | Mus musculus | N214 | NDGEPNNASPG | 1 | Bos taurus | N215 | EGEPNNAGSDE | 2 | Homo sapiens, Pan troglodytes | N215 | EGEPNNVGSGE | 2 | Rattus norvegicus, Rattus norvegicus | N215 | DGEPNNTGDGE | 1 | Mus musculus | N215 | DGEPNNASPGE | 1 | Bos taurus | N232 | KNGQWNDVPCS | 2 | Homo sapiens, Pan troglodytes | N232 | TNGKWNDVPCS | 2 | Rattus norvegicus, Rattus norvegicus | N232 | GNGKWNDVPCS | 1 | Mus musculus | N232 | SDGTWNDIACS | 1 | Bos taurus | Q230 | LLKNGQWNDVP | 2 | Homo sapiens, Pan troglodytes | Q230 | LLTNGKWNDVP | 2 | Rattus norvegicus, Rattus norvegicus | Q230 | ILGNGKWNDVP | 1 | Mus musculus | Q230 | LLSDGTWNDIA | 1 | Bos taurus |
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