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| TissGeneSummary for MASP2 |
 Gene summary |
| Basic gene information | 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: 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 TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of MASP2 | ||
| Description by TissGene annotations | Unique usage of specific isoform Cancer gene | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| 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 | GO:0001867 | complement activation, lectin pathway | 17182967 |
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| TissGeneExp for MASP2 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LUAD | -0.043920132 | 1.206571248 | -1.250491379 | 4.93E-10 | 2.72E-09 |
| BRCA | 0.179416922 | 1.859035343 | -1.679618421 | 1.69E-28 | 2.04E-27 |
| KIRP | -0.430319701 | 0.659242799 | -1.0895625 | 4.24E-06 | 1.90E-05 |
| LUSC | -0.221907691 | 1.271733486 | -1.493641176 | 2.36E-14 | 1.32E-13 |
| LIHC | 7.784239799 | 9.433869799 | -1.64963 | 0.000298 | 0.000915433 |
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| TissGene-miRNA for MASP2 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for MASP2 |
| TissGeneSNV for MASP2 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.E521K | LUAD | 2 |
| p.Y379C | PRAD | 1 |
| p.P313H | COAD | 1 |
| p.I267N | LUAD | 1 |
| p.E622* | STAD | 1 |
| p.P301L | BLCA | 1 |
| p.N308T | BLCA | 1 |
| p.R439H | DLBC | 1 |
| p.P101L | SKCM | 1 |
| p.R498Q | LUAD | 1 |
| p.L320M | THYM | 1 |
| p.W289X | SKCM | 1 |
| p.A492S | SARC | 1 |
| p.Q336X | STAD | 1 |
| p.D355E | UCEC | 1 |
| p.Q298* | LUAD | 1 |
| p.R439S | UCEC | 1 |
| p.A316D | UCEC | 1 |
| p.R563G | COAD | 1 |
| p.F258L | UCEC | 1 |
| p.E424* | HNSC | 1 |
| p.D120G | OV | 1 |
| p.R266M | COAD | 1 |
| p.V172I | SKCM | 1 |
| p.A534T | UCEC | 1 |
| p.S209F | SKCM | 1 |
| p.E148K | SKCM | 1 |
| p.L472F | GBM | 1 |
| p.G625S | SKCM | 1 |
| p.S312L | SKCM | 1 |
| p.Y587N | LUSC | 1 |
| p.L246I | UCEC | 1 |
| p.D42N | CESC | 1 |
| p.P453S | COAD | 1 |
| p.P383L | SKCM | 1 |
| p.R498X | COAD | 1 |
| p.Y410N | PRAD | 1 |
| p.A145V | STAD | 1 |
| p.A169T | COAD | 1 |
| p.E622X | STAD | 1 |
| p.R175H | STAD | 1 |
| p.G568E | SKCM | 1 |
| p.G129R | SKCM | 1 |
| p.R376Q | COAD | 1 |
| p.G367S | HNSC | 1 |
| p.R56C | BRCA | 1 |
| p.R630T | BLCA | 1 |
| p.D685N | SKCM | 1 |
| p.C430S | HNSC | 1 |
| p.H292Y | SKCM | 1 |
| p.W289* | SKCM | 1 |
| p.P605L | LUAD | 1 |
| p.R356W | SKCM | 1 |
| p.P264H | LUAD | 1 |
| p.R175H | BLCA | 1 |
| p.R583K | SKCM | 1 |
| p.E218K | SKCM | 1 |
| p.W418S | KIRP | 1 |
| p.N158S | HNSC | 1 |
| p.M1I | LIHC | 1 |
| p.S642R | LIHC | 1 |
| p.T524A | HNSC | 1 |
| p.A305P | OV | 1 |
| p.M403I | UCEC | 1 |
| p.D407N | SKCM | 1 |
| p.E234Q | CESC | 1 |
| p.R56H | UCEC | 1 |
| p.Q336* | STAD | 1 |
| p.P126L | DLBC | 1 |
| p.P257S | SKCM | 1 |
| p.S546C | OV | 1 |
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| TissGeneCNV for MASP2 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for MASP2 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
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| TissGeneNet for MASP2 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| COAD (tumor) | COAD (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| KICH (tumor) | KICH (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| STAD (tumor) | STAD (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| THCA (tumor) | THCA (normal) |
| MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (tumor) | MASP2, PITX3, FCN2, C4A, MBL2, MASP1, SERPING1, FCN1 (normal) |
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| TissGeneProg for MASP2 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for MASP2 |
| TissGeneDrug for MASP2 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for MASP2 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0004610 | Bacteremia | 2 | GAD |
| umls:C0024305 | Lymphoma, Non-Hodgkin | 2 | BeFree,GAD |
| umls:C0032285 | Pneumonia | 2 | BeFree |
| umls:C0035436 | Rheumatic Fever | 2 | BeFree,GAD |
| umls:C0035439 | Rheumatic Heart Disease | 2 | BeFree,GAD |
| umls:C0041296 | Tuberculosis | 2 | BeFree |
| umls:C0042769 | Virus Diseases | 2 | BeFree |
| umls:C0155862 | Streptococcal pneumonia | 2 | CTD_human,GAD |
| umls:C0242966 | Systemic Inflammatory Response Syndrome | 2 | BeFree |
| umls:C0878544 | Cardiomyopathies | 2 | BeFree |
| umls:C2239176 | Liver carcinoma | 2 | BeFree,GAD |
| umls:C0002736 | Amyotrophic Lateral Sclerosis | 1 | BeFree |
| umls:C0003873 | Rheumatoid Arthritis | 1 | BeFree |
| umls:C0004153 | Atherosclerosis | 1 | GAD |
| umls:C0004623 | Bacterial Infections | 1 | GAD |
| umls:C0004626 | Pneumonia, Bacterial | 1 | GAD |
| umls:C0007786 | Brain Ischemia | 1 | GAD |
| umls:C0009324 | Ulcerative Colitis | 1 | CTD_human |
| umls:C0009404 | Colorectal Neoplasms | 1 | LHGDN |
| umls:C0010346 | Crohn Disease | 1 | LHGDN |
| umls:C0010674 | Cystic Fibrosis | 1 | LHGDN |
| umls:C0014742 | Erythema Multiforme | 1 | CTD_human |
| umls:C0015672 | Fatigue | 1 | BeFree |
| umls:C0018133 | Graft-vs-Host Disease | 1 | BeFree |
| umls:C0019693 | HIV Infections | 1 | BeFree,GAD |
| umls:C0020951 | Immune Complex Diseases | 1 | CTD_human |
| umls:C0021368 | Inflammation | 1 | CTD_human |
| umls:C0023343 | Leprosy | 1 | BeFree |
| umls:C0023348 | Leprosy, Lepromatous | 1 | BeFree |
| umls:C0024301 | Lymphoma, Follicular | 1 | BeFree |
| umls:C0024530 | Malaria | 1 | BeFree |
| umls:C0026769 | Multiple Sclerosis | 1 | BeFree |
| umls:C0026946 | Mycoses | 1 | BeFree |
| umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
| umls:C0032269 | Pneumococcal Infections | 1 | GAD |
| umls:C0032787 | Postoperative Complications | 1 | GAD |
| umls:C0033860 | Psoriasis | 1 | BeFree |
| umls:C0038454 | Cerebrovascular accident | 1 | GAD |
| umls:C0079744 | Diffuse Large B-Cell Lymphoma | 1 | BeFree |
| umls:C0079745 | Lymphoma, Large-Cell, Follicular | 1 | BeFree |
| umls:C0206171 | Community-Acquired Infections | 1 | GAD |
| umls:C0206750 | Coronavirus Infections | 1 | BeFree |
| umls:C0231218 | Malaise | 1 | BeFree |
| umls:C0236642 | Pick Disease of the Brain | 1 | BeFree |
| umls:C0242383 | Age related macular degeneration | 1 | GAD |
| umls:C0338451 | Frontotemporal dementia | 1 | BeFree |
| umls:C0343804 | Chronic Chagas' disease | 1 | BeFree |
| umls:C0497327 | Dementia | 1 | GAD |
| umls:C0856825 | Acute GVH disease | 1 | BeFree |
| umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
| umls:C1175175 | Severe Acute Respiratory Syndrome | 1 | BeFree |
| umls:C1527249 | Colorectal Cancer | 1 | BeFree,GAD |
| umls:C1704430 | Urinary Schistosomiasis | 1 | BeFree |
| umls:C1960469 | Left ventricular noncompaction | 1 | BeFree |
| umls:C3151085 | MASP2 Deficiency | 1 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C3714514 | Infection | 1 | LHGDN |
| umls:C3714636 | Pneumonitis | 1 | BeFree |
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