mutLBSgeneDB

mutLBSgeneDB
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 MMP2
Gene summary
Basic gene Info.Gene symbolMMP2
Gene namematrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
SynonymsCLG4|CLG4A|MMP-2|MMP-II|MONA|TBE-1
CytomapUCSC genome browser: 16q13-q21
Type of geneprotein-coding
RefGenesNM_001127891.2,
NM_001302508.1,NM_001302509.1,NM_001302510.1,NM_004530.5,
Description72 kDa type IV collagenasecollagenase type IV-Amatrix metalloproteinase-2matrix metalloproteinase-IIneutrophil gelatinase
Modification date20141222
dbXrefs MIM : 120360
HGNC : HGNC
Ensembl : ENSG00000087245
HPRD : 00386
Vega : OTTHUMG00000133202
ProteinUniProt: P08253
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MMP2
BioGPS: 4313
PathwayNCI Pathway Interaction Database: MMP2
KEGG: MMP2
REACTOME: MMP2
Pathway Commons: MMP2
ContextiHOP: MMP2
ligand binding site mutation search in PubMed: MMP2
UCL Cancer Institute: MMP2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006508proteolysis15863497


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Ligand binding site mutations for MMP2
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
G189G189RCOAD1
Y395G394EKIRC1
G186G186RLUAD1
G198,A196P197TLUAD1
V523,D521A522VLUAD1
G186G186VLUAD1
Y425Y425NLUAD1
H407H407YLUAD1
L399V400LOV1
V523E525KSKCM1
A422A422EUCEC1
D521I520TUCEC1
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 MMP2
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
D521I520T-1.315637
Y425Y425N-1.0991545
V523A522V-0.72702199
D521A522V-0.72702199
Y395G394E-0.70319591
G198P197T-0.64312373
A196P197T-0.64312373
G186G186V-0.64259723
A422A422E-0.60751311
G186G186R-0.60612197
L399V400L-0.43438598
H407H407Y-0.35927984
V523E525K-0.35786136
G189G189R-0.13382159
(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 MMP2 from PDB

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Differential gene expression and gene-gene network for MMP2
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 MMP2 and the right PPI network was created from samples without mutations in the LBS of MMP2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for MMP2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027627Neoplasm Metastasis175AlteredExpression, Biomarker
umls:C2239176Carcinoma, Hepatocellular47AlteredExpression, Biomarker, GeneticVariation
umls:C0017636Glioblastoma27AlteredExpression, Biomarker
umls:C0003873Arthritis, Rheumatoid22AlteredExpression, Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms18AlteredExpression, Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms16AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0027051Myocardial Infarction11AlteredExpression, Biomarker, GeneticVariation
umls:C2931822Nasopharyngeal carcinoma11Biomarker, GeneticVariation
umls:C1850155Osteolysis hereditary multicentric9Biomarker, GeneticVariation
umls:C0020538Hypertension9AlteredExpression, Biomarker, GeneticVariation
umls:C0023890Liver Cirrhosis4Biomarker, GeneticVariation, Therapeutic
umls:C0162872Aortic Aneurysm, Thoracic4Biomarker
umls:C0021368Inflammation4Biomarker, GeneticVariation
umls:C0027626Neoplasm Invasiveness4Biomarker
umls:C0034069Pulmonary Fibrosis3AlteredExpression, Biomarker
umls:C0029172Oral Submucous Fibrosis3Biomarker, GeneticVariation
umls:C0003496Aortic Rupture2Biomarker
umls:C0005940Bone Diseases2Biomarker
umls:C0024143Lupus Nephritis2Biomarker
umls:C0006663Calcinosis2Biomarker
umls:C0376634Craniofacial Abnormalities2Biomarker
umls:C0003493Aortic Diseases1Biomarker
umls:C0005944Bone Diseases, Metabolic1Biomarker
umls:C0005967Bone Neoplasms1Biomarker
umls:C2937358Cerebral Hemorrhage1Biomarker
umls:C0011853Diabetes Mellitus, Experimental1Biomarker
umls:C0011882Diabetic Neuropathies1Biomarker
umls:C0242656Disease Progression1Biomarker
umls:C0860207Drug-Induced Liver Injury1Biomarker
umls:C0023283Leishmaniasis, Cutaneous1Biomarker
umls:C0023891Liver Cirrhosis, Alcoholic1Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Biomarker
umls:C0024689Mandibular Diseases1Biomarker
umls:C0024796Marfan Syndrome1Biomarker
umls:C0024950Maxillary Diseases1Biomarker
umls:C0027439Nasopharyngeal Neoplasms1Biomarker
umls:C2936380Neointima1Biomarker
umls:C0028433Nose Neoplasms1Biomarker
umls:C0029445Osteonecrosis1Biomarker
umls:C1336708Testicular Germ Cell Tumor1Biomarker

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

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Pharmacological information for MMP2
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
Approved|investigationalDB00786MarimastatSmall molecule
ApprovedDB01197CaptoprilSmall molecule
ExperimentalDB01630SC-74020Small molecule
Investigational|vet_approvedDB04866HalofuginoneSmall molecule
InvestigationalDB05387AE-941Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MMP2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1ck7AD521
CACALCIUM(2+)1genAD521
CACALCIUM(2+)1rtgAD521
CACALCIUM(2+)1ck7AG186
CACALCIUM(2+)1eakAG186
CACALCIUM(2+)1eakBG186
CACALCIUM(2+)1eakDG186
CACALCIUM(2+)1eakCG186 G189
CACALCIUM(2+)1eakAG198
CACALCIUM(2+)1eakBG198
CACALCIUM(2+)1eakCG198
ZNZINC(2+)1ck7AH407
ZNZINC(2+)1eakAH407
ZNZINC(2+)1eakBH407
ZNZINC(2+)1eakCH407
ZNZINC(2+)1eakDH407
CACALCIUM(2+)1rtgAV523


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Conservation information for LBS of MMP2
Multiple alignments for P08253 in multiple species
LBSAA sequence# speciesSpecies
A167IHDGEADIMIN4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A167INDGEADIMIN1Gallus gallus
A192KDGLLAHAFAP5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
A194GLLAHAFAPGT3Homo sapiens, Mus musculus, Rattus norvegicus
A194GLLAHAFAPGP2Gallus gallus, Bos taurus
A196LAHAFAPGTGV3Homo sapiens, Mus musculus, Rattus norvegicus
A196LAHAFAPGPGI1Gallus gallus
A196LAHAFAPGPGV1Bos taurus
A278FCPHEALFTMG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A278FCPHESLFTMG1Gallus gallus
A419SQDPGALMAPI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A419SEDPGALMAPI1Gallus gallus
A422PGALMAPIYTY5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
A479VFDGIAQIRGE3Homo sapiens, Mus musculus, Rattus norvegicus
A479VFDGVAQIRGE1Gallus gallus
A479VFDGISQIRGE1Bos taurus
A571QQVDAAFNWSK2Mus musculus, Rattus norvegicus
A571QRVDAAFNWSK1Homo sapiens
A571QRIDAAFNWGR1Gallus gallus
A571QKVDAAFNWSK1Bos taurus
C102MRKPRCGNPDV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
C102MKKPRCGNPDV1Gallus gallus
D134IGYTPDLDPET4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D134IGYTPDLDPQT1Bos taurus
D168HDGEADIMINF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D168NDGEADIMINF1Gallus gallus
D180RWEHGDGYPFD5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
D185DGYPFDGKDGL5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
D188PFDGKDGLLAH5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
D204TGVGGDSHFDD3Homo sapiens, Mus musculus, Rattus norvegicus
D204PGIGGDSHFDD1Gallus gallus
D204PGVGGDSHFDD1Bos taurus
D208GDSHFDDDELW4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D208GDSHFDDDELR1Bos taurus
D209DSHFDDDELWT4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
D209DSHFDDDELRT1Bos taurus
D303QGTSYDSCTTE2Homo sapiens, Bos taurus
D303QGTSYNSCTTE2Mus musculus, Rattus norvegicus
D303QGQSYDQCTTE1Gallus gallus
D476QDIVFDGIAQI3Homo sapiens, Mus musculus, Rattus norvegicus
D476HDIVFDGVAQI1Gallus gallus
D476QDIVFDGISQI1Bos taurus
D521LPEKIDAVYEA3Homo sapiens, Mus musculus, Rattus norvegicus
D521LPEKIDAVYES1Gallus gallus
D521LPEKIDAVYED1Bos taurus
D569DVQQVDAAFNW2Mus musculus, Rattus norvegicus
D569DVQRVDAAFNW1Homo sapiens
D569DVQRIDAAFNW1Gallus gallus
D569GVQKVDAAFNW1Bos taurus
D618IPDNLDAVVDL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D618VPDNLDAVLGL1Gallus gallus
E166RIHDGEADIMI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E166RINDGEADIMI1Gallus gallus
E211HFDDDELWTLG4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
E211HFDDDELRTLG1Bos taurus
E277GFCPHEALFTM4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E277GFCPHESLFTM1Gallus gallus
E404LVAAHEFGHAM5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
E412HAMGLEHSQDP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E412HAMGLEHSEDP1Gallus gallus
F113ANYNFFPRKPK5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
F195LLAHAFAPGTG3Homo sapiens, Mus musculus, Rattus norvegicus
F195LLAHAFAPGPG2Gallus gallus, Bos taurus
F293GQPCKFPFRFQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F293GQPCKFPFKFQ1Gallus gallus
F431TYTKNFRLSQD2Homo sapiens, Gallus gallus
F431TYTKNFRLSHD2Bos taurus, Mus musculus
F431TYTKNFRLSND1Rattus norvegicus
G130TYRIIGYTPDL5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G186GYPFDGKDGLL5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G189FDGKDGLLAHA5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
G198HAFAPGTGVGG3Homo sapiens, Mus musculus, Rattus norvegicus
G198HAFAPGPGIGG1Gallus gallus
G198HAFAPGPGVGG1Bos taurus
G200FAPGTGVGGDS3Homo sapiens, Mus musculus, Rattus norvegicus
G200FAPGPGIGGDS1Gallus gallus
G200FAPGPGVGGDS1Bos taurus
G202PGTGVGGDSHF3Homo sapiens, Mus musculus, Rattus norvegicus
G202PGPGIGGDSHF1Gallus gallus
G202PGPGVGGDSHF1Bos taurus
G203GTGVGGDSHFD3Homo sapiens, Mus musculus, Rattus norvegicus
G203GPGIGGDSHFD1Gallus gallus
G203GPGVGGDSHFD1Bos taurus
G299PFRFQGTSYDS2Homo sapiens, Bos taurus
G299PFRFQGTSYNS2Mus musculus, Rattus norvegicus
G299PFKFQGQSYDQ1Gallus gallus
H178FGRWEHGDGYP5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
H193DGLLAHAFAPG5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
H206VGGDSHFDDDE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H206IGGDSHFDDDE1Gallus gallus
H276YGFCPHEALFT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H276YGFCPHESLFT1Gallus gallus
H403FLVAAHEFGHA5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
H407AHEFGHAMGLE5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
H413AMGLEHSQDPG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H413AMGLEHSEDPG1Gallus gallus
I169DGEADIMINFG5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
I424ALMAPIYTYTK5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
I478IVFDGIAQIRG3Homo sapiens, Mus musculus, Rattus norvegicus
I478IVFDGVAQIRG1Gallus gallus
I478IVFDGISQIRG1Bos taurus
K187YPFDGKDGLLA5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
L190DGKDGLLAHAF5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
L191GKDGLLAHAFA5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
L212FDDDELWTLGE4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
L212FDDDELRTLGE1Bos taurus
L399GYSLFLVAAHE5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
L420QDPGALMAPIY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L420EDPGALMAPIY1Gallus gallus
M170GEADIMINFGR5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
N104KPRCGNPDVAN5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
P114NYNFFPRKPKW5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
P133IIGYTPDLDPE4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
P133IIGYTPDLDPQ1Bos taurus
P423GALMAPIYTYT5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Q298FPFRFQGTSYD2Homo sapiens, Bos taurus
Q298FPFRFQGTSYN2Mus musculus, Rattus norvegicus
Q298FPFKFQGQSYD1Gallus gallus
R296CKFPFRFQGTS4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R296CKFPFKFQGQS1Gallus gallus
R432YTKNFRLSQDD2Homo sapiens, Gallus gallus
R432YTKNFRLSHDD2Bos taurus, Mus musculus
R432YTKNFRLSNDD1Rattus norvegicus
S301RFQGTSYDSCT2Homo sapiens, Bos taurus
S301RFQGTSYNSCT2Mus musculus, Rattus norvegicus
S301KFQGQSYDQCT1Gallus gallus
S304GTSYDSCTTEG2Homo sapiens, Bos taurus
S304GTSYNSCTTEG2Mus musculus, Rattus norvegicus
S304GQSYDQCTTEG1Gallus gallus
T132RIIGYTPDLDP5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
T300FRFQGTSYDSC2Homo sapiens, Bos taurus
T300FRFQGTSYNSC2Mus musculus, Rattus norvegicus
T300FKFQGQSYDQC1Gallus gallus
T426MAPIYTYTKNF5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
T428PIYTYTKNFRL5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
V201APGTGVGGDSH3Homo sapiens, Mus musculus, Rattus norvegicus
V201APGPGIGGDSH1Gallus gallus
V201APGPGVGGDSH1Bos taurus
V523EKIDAVYEAPQ3Homo sapiens, Mus musculus, Rattus norvegicus
V523EKIDAVYESPQ1Gallus gallus
V523EKIDAVYEDPQ1Bos taurus
V620DNLDAVVDLQG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
V620DNLDAVLGLTD1Gallus gallus
Y131YRIIGYTPDLD5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Y182EHGDGYPFDGK5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Y395CPDQGYSLFLV5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus
Y425LMAPIYTYTKN5Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus


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