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mutLBSgeneDB |
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| Gene summary for MASP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | MASP2 |
| Gene name | mannan-binding lectin serine peptidase 2 | |
| Synonyms | MAP19|MASP-2|MASP1P1|sMAP | |
| Cytomap | UCSC genome browser: 1p36.3-p36.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006610.3, NM_139208.2, | |
| Description | MBL-associated plasma protein of 19 kDMBL-associated serine protease 2mannan-binding lectin serine peptidase 1 pseudogene 1mannan-binding lectin serine protease 1 pseudogene 1mannan-binding lectin serine protease 2mannose-binding protein-associated s | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 605102 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000009724 | ||
| HPRD : 05484 | ||
| Vega : OTTHUMG00000002121 | ||
| Protein | UniProt: O00187 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MASP2 | |
| BioGPS: 10747 | ||
| Pathway | NCI Pathway Interaction Database: MASP2 | |
| KEGG: MASP2 | ||
| REACTOME: MASP2 | ||
| Pathway Commons: MASP2 | ||
| Context | iHOP: MASP2 | |
| ligand binding site mutation search in PubMed: MASP2 | ||
| UCL Cancer Institute: MASP2 | ||
| 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 | 17182967 |
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| Ligand binding site mutations for MASP2 |
| 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 | N158 | N158S | HNSC | 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 MASP2 |
| 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 | N158 | N158S | -0.2683634 |
| (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 MASP2 from PDB |
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| Differential gene expression and gene-gene network for MASP2 |
| 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 MASP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0155862 | Pneumonia, Pneumococcal | 2 | Biomarker, GeneticVariation |
| umls:C3151085 | MASP2 Deficiency | 1 | Biomarker, GeneticVariation |
| umls:C0009324 | Colitis, Ulcerative | 1 | Biomarker |
| umls:C0014742 | Erythema Multiforme | 1 | Biomarker |
| umls:C0020951 | Immune Complex Diseases | 1 | Biomarker |
| umls:C0021368 | Inflammation | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MASP2 |
| 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 | DB04527 | Beta-Hydroxyasparagine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MASP2 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 MASP2 |
| Multiple alignments for O00187 in multiple species |
| LBS | AA sequence | # species | Species | D120 | VTFHSDYSNEK | 2 | Mus musculus, Rattus norvegicus | D120 | ITFRSDYSNEK | 1 | Homo sapiens | D138 | FYAAEDVDECR | 2 | Mus musculus, Rattus norvegicus | D138 | FYAAEDIDECQ | 1 | Homo sapiens | D75 | HLCEYDFVKLS | 1 | Homo sapiens | D75 | YRCEYDFVKLS | 1 | Mus musculus | D75 | YRCEYDFVKLT | 1 | Rattus norvegicus | E141 | AEDIDECQVAP | 1 | Homo sapiens | E141 | AEDVDECRVSL | 1 | Mus musculus | E141 | AEDVDECRTSL | 1 | Rattus norvegicus | E67 | THFDLELSHLC | 1 | Homo sapiens | E67 | THFDLELSYRC | 1 | Mus musculus | E67 | THFNLELSYRC | 1 | Rattus norvegicus | G161 | CHNYLGGYYCS | 2 | Mus musculus, Rattus norvegicus | G161 | CHNHLGGFYCS | 1 | Homo sapiens | G162 | HNYLGGYYCSC | 2 | Mus musculus, Rattus norvegicus | G162 | HNHLGGFYCSC | 1 | Homo sapiens | H159 | HYCHNYLGGYY | 2 | Mus musculus, Rattus norvegicus | H159 | HHCHNHLGGFY | 1 | Homo sapiens | I139 | YAAEDIDECQV | 1 | Homo sapiens | I139 | YAAEDVDECRV | 1 | Mus musculus | I139 | YAAEDVDECRT | 1 | Rattus norvegicus | N123 | HSDYSNEKPFT | 2 | Mus musculus, Rattus norvegicus | N123 | RSDYSNEKPFT | 1 | Homo sapiens | N158 | DHYCHNYLGGY | 2 | Mus musculus, Rattus norvegicus | N158 | DHHCHNHLGGF | 1 | Homo sapiens | S122 | FHSDYSNEKPF | 2 | Mus musculus, Rattus norvegicus | S122 | FRSDYSNEKPF | 1 | Homo sapiens |
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