mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 MASP2
Gene summary
Basic gene Info.Gene symbolMASP2
Gene namemannan-binding lectin serine peptidase 2
CytomapUCSC genome browser: 1p36.3-p36.2
Type of geneprotein-coding
DescriptionMBL-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 date20141221
dbXrefs MIM : 605102
Ensembl : ENSG00000009724
HPRD : 05484
Vega : OTTHUMG00000002121
ProteinUniProt: O00187
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MASP2
BioGPS: 10747
PathwayNCI Pathway Interaction Database: MASP2
Pathway Commons: MASP2
ContextiHOP: MASP2
ligand binding site mutation search in PubMed: MASP2
UCL Cancer Institute: MASP2
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 pathway17182967

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.

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 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

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 MASP2 from PDB

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)
* Left PPI network was created from samples with mutations in the LBS of MASP2 and the right PPI network was created from samples without mutations in the LBS of MASP2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MASP2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0155862Pneumonia, Pneumococcal2Biomarker, GeneticVariation
umls:C3151085MASP2 Deficiency1Biomarker, GeneticVariation
umls:C0009324Colitis, Ulcerative1Biomarker
umls:C0014742Erythema Multiforme1Biomarker
umls:C0020951Immune Complex Diseases1Biomarker

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

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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB04527Beta-HydroxyasparagineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MASP2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of MASP2
Multiple alignments for O00187 in multiple species
LBSAA sequence# speciesSpecies
D120VTFHSDYSNEK2Mus musculus, Rattus norvegicus
D120ITFRSDYSNEK1Homo sapiens
D138FYAAEDVDECR2Mus musculus, Rattus norvegicus
D138FYAAEDIDECQ1Homo sapiens
D75HLCEYDFVKLS1Homo sapiens
D75YRCEYDFVKLS1Mus musculus
D75YRCEYDFVKLT1Rattus norvegicus
E141AEDIDECQVAP1Homo sapiens
E141AEDVDECRVSL1Mus musculus
E141AEDVDECRTSL1Rattus norvegicus
E67THFDLELSHLC1Homo sapiens
E67THFDLELSYRC1Mus musculus
E67THFNLELSYRC1Rattus norvegicus
G161CHNYLGGYYCS2Mus musculus, Rattus norvegicus
G161CHNHLGGFYCS1Homo sapiens
G162HNYLGGYYCSC2Mus musculus, Rattus norvegicus
G162HNHLGGFYCSC1Homo sapiens
H159HYCHNYLGGYY2Mus musculus, Rattus norvegicus
H159HHCHNHLGGFY1Homo sapiens
I139YAAEDIDECQV1Homo sapiens
I139YAAEDVDECRV1Mus musculus
I139YAAEDVDECRT1Rattus norvegicus
N123HSDYSNEKPFT2Mus musculus, Rattus norvegicus
N123RSDYSNEKPFT1Homo sapiens
N158DHYCHNYLGGY2Mus musculus, Rattus norvegicus
N158DHHCHNHLGGF1Homo sapiens
S122FHSDYSNEKPF2Mus musculus, Rattus norvegicus
S122FRSDYSNEKPF1Homo sapiens

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas