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 MMP8
Gene summary
Basic gene Info.Gene symbolMMP8
Gene namematrix metallopeptidase 8 (neutrophil collagenase)
SynonymsCLG1|HNC|MMP-8|PMNL-CL
CytomapUCSC genome browser: 11q22.3
Type of geneprotein-coding
RefGenesNM_002424.2,
DescriptionPMNL collagenasematrix metalloproteinase 8 (neutrophil collagenase)matrix metalloproteinase-8neutrophil collagenase
Modification date20141207
dbXrefs MIM : 120355
HGNC : HGNC
Ensembl : ENSG00000118113
HPRD : 00385
Vega : OTTHUMG00000167587
ProteinUniProt: P22894
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MMP8
BioGPS: 4317
PathwayNCI Pathway Interaction Database: MMP8
KEGG: MMP8
REACTOME: MMP8
Pathway Commons: MMP8
ContextiHOP: MMP8
ligand binding site mutation search in PubMed: MMP8
UCL Cancer Institute: MMP8
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:0006508proteolysis2164002


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Ligand binding site mutations for MMP8
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
H221H221NBRCA1
Y236Y236SCOAD1
H221S222YCOAD1
E200W202CLUSC1
S171P172SSKCM1
D197A198VSTAD1
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 MMP8
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
H221S222Y0.19889657
Y236Y236S-1.2121629
S171P172S-0.89865571
E200W202C-0.80210513
H221H221N-0.49623362
D197A198V-0.34271174
(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 MMP8 from PDB

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Differential gene expression and gene-gene network for MMP8
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 MMP8 and the right PPI network was created from samples without mutations in the LBS of MMP8. 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 MMP8
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0025202Melanoma7AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0023893Liver Cirrhosis, Experimental1Therapeutic
umls:C0024115Lung Diseases1Biomarker
umls:C0043251Wounds and Injuries1Biomarker

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

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Pharmacological information for MMP8
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
ExperimentalDB023261-Hydroxyamine-2-Isobutylmalonic AcidSmall molecule
ExperimentalDB029532-Thiomethyl-3-Phenylpropanoic AcidSmall molecule
ExperimentalDB032072-(Biphenyl-4-Sulfonyl)-1,2,3,4-Tetrahydro-Isoquinoline-3-Carboxylic AcidSmall molecule
ExperimentalDB036222-Hydroxy-5-[4-(2-Hydroxy-Ethyl)-Piperidin-1-Yl]-5-Phenyl-1h-Pyrimidine-4,6-DioneSmall molecule
ExperimentalDB03636GlycinamidSmall molecule
ExperimentalDB03880BatimastatSmall molecule
ExperimentalDB06971N-{2-[(4'-CYANO-1,1'-BIPHENYL-4-YL)OXY]ETHYL}-N'-HYDROXY-N-METHYLUREASmall molecule
ExperimentalDB07397(5S)-5-(2-amino-2-oxoethyl)-4-oxo-N-[(3-oxo-3,4-dihydro-2H-1,4-benzoxazin-6-yl)methyl]-3,4,5,6,7,8-hexahydro[1]benzothieno[2,3-d]pyrimidine-2-carboxamideSmall molecule
ExperimentalDB07713(1S)-1-{[(4'-METHOXY-1,1'-BIPHENYL-4-YL)SULFONYL]AMINO}-2-METHYLPROPYLPHOSPHONIC ACIDSmall molecule
ExperimentalDB07772(1R)-1-{[(4'-METHOXY-1,1'-BIPHENYL-4-YL)SULFONYL]AMINO}-2-METHYLPROPYLPHOSPHONIC ACIDSmall molecule
ExperimentalDB079003-FORMYL-2-HYDROXY-5-METHYL-HEXANOIC ACID HYDROXYAMIDESmall molecule
ExperimentalDB08028BUT-3-ENYL-[5-(4-CHLORO-PHENYL)-3,6-DIHYDRO-[1,3,4]THIADIAZIN-2-YLIDENE]-AMINESmall molecule
ExperimentalDB08403METHYLAMINO-PHENYLALANYL-LEUCYL-HYDROXAMIC ACIDSmall molecule
ExperimentalDB084763-AMINO-AZACYCLOTRIDECAN-2-ONESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MMP8 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of MMP8
Multiple alignments for P22894 in multiple species
LBSAA sequence# speciesSpecies
A181PNGILAHAFQP3Homo sapiens, Mus musculus, Rattus norvegicus
A183GILAHAFQPGQ2Homo sapiens, Mus musculus
A183GILAHAFQPGR1Rattus norvegicus
A233STDPGALMYPN2Mus musculus, Rattus norvegicus
A233SSDPGALMYPN1Homo sapiens
A240MYPNYAYREPS2Mus musculus, Rattus norvegicus
A240MYPNYAFRETS1Homo sapiens
D157SQGEADINIAF1Homo sapiens
D157LQGEADINIAF1Mus musculus
D157LEGEADINIAF1Rattus norvegicus
D169SRDHGDNSPFD2Mus musculus, Rattus norvegicus
D169QRDHGDNSPFD1Homo sapiens
D174DNSPFDGPNGI3Homo sapiens, Mus musculus, Rattus norvegicus
D193QGIGGDAHFDA1Homo sapiens
D193QGIGGDAHFDS1Mus musculus
D193RGIGGDAHFDS1Rattus norvegicus
D197GDAHFDSEETW2Mus musculus, Rattus norvegicus
D197GDAHFDAEETW1Homo sapiens
E200HFDSEETWTQD2Mus musculus, Rattus norvegicus
E200HFDAEETWTNT1Homo sapiens
E218LVAAHEFGHSL3Homo sapiens, Mus musculus, Rattus norvegicus
F184ILAHAFQPGQG2Homo sapiens, Mus musculus
F184ILAHAFQPGRG1Rattus norvegicus
F212KNYNLFLVAAH2Mus musculus, Rattus norvegicus
F212ANYNLFLVAAH1Homo sapiens
F241YPNYAYREPST2Mus musculus, Rattus norvegicus
F241YPNYAFRETSN1Homo sapiens
G175NSPFDGPNGIL3Homo sapiens, Mus musculus, Rattus norvegicus
G178FDGPNGILAHA3Homo sapiens, Mus musculus, Rattus norvegicus
G189FQPGQGIGGDA2Homo sapiens, Mus musculus
G189FQPGRGIGGDA1Rattus norvegicus
G191PGQGIGGDAHF2Homo sapiens, Mus musculus
G191PGRGIGGDAHF1Rattus norvegicus
H167FVSRDHGDNSP2Mus musculus, Rattus norvegicus
H167FYQRDHGDNSP1Homo sapiens
H182NGILAHAFQPG3Homo sapiens, Mus musculus, Rattus norvegicus
H195IGGDAHFDSEE2Mus musculus, Rattus norvegicus
H195IGGDAHFDAEE1Homo sapiens
H217FLVAAHEFGHS3Homo sapiens, Mus musculus, Rattus norvegicus
H221AHEFGHSLGLS2Mus musculus, Rattus norvegicus
H221AHEFGHSLGLA1Homo sapiens
H227SLGLSHSTDPG2Mus musculus, Rattus norvegicus
H227SLGLAHSSDPG1Homo sapiens
I179DGPNGILAHAF3Homo sapiens, Mus musculus, Rattus norvegicus
I190QPGQGIGGDAH2Homo sapiens, Mus musculus
I190QPGRGIGGDAH1Rattus norvegicus
L180GPNGILAHAFQ3Homo sapiens, Mus musculus, Rattus norvegicus
L213NYNLFLVAAHE3Homo sapiens, Mus musculus, Rattus norvegicus
L234TDPGALMYPNY2Mus musculus, Rattus norvegicus
L234SDPGALMYPNY1Homo sapiens
N177PFDGPNGILAH3Homo sapiens, Mus musculus, Rattus norvegicus
N238ALMYPNYAYRE2Mus musculus, Rattus norvegicus
N238ALMYPNYAFRE1Homo sapiens
N246YREPSTYSLPQ2Mus musculus, Rattus norvegicus
N246FRETSNYSLPQ1Homo sapiens
P176SPFDGPNGILA3Homo sapiens, Mus musculus, Rattus norvegicus
P237GALMYPNYAYR2Mus musculus, Rattus norvegicus
P237GALMYPNYAFR1Homo sapiens
P250STYSLPQDDIN2Mus musculus, Rattus norvegicus
P250SNYSLPQDDID1Homo sapiens
Q185LAHAFQPGQGI2Homo sapiens, Mus musculus
Q185LAHAFQPGRGI1Rattus norvegicus
R242PNYAYREPSTY2Mus musculus, Rattus norvegicus
R242PNYAFRETSNY1Homo sapiens
S171DHGDNSPFDGP3Homo sapiens, Mus musculus, Rattus norvegicus
S248EPSTYSLPQDD2Mus musculus, Rattus norvegicus
S248ETSNYSLPQDD1Homo sapiens
T244YAYREPSTYSL2Mus musculus, Rattus norvegicus
T244YAFRETSNYSL1Homo sapiens
V214YNLFLVAAHEF3Homo sapiens, Mus musculus, Rattus norvegicus
Y209QDSKNYNLFLV2Mus musculus, Rattus norvegicus
Y209NTSANYNLFLV1Homo sapiens
Y236PGALMYPNYAY2Mus musculus, Rattus norvegicus
Y236PGALMYPNYAF1Homo sapiens
Y239LMYPNYAYREP2Mus musculus, Rattus norvegicus
Y239LMYPNYAFRET1Homo sapiens
Y247REPSTYSLPQD2Mus musculus, Rattus norvegicus
Y247RETSNYSLPQD1Homo sapiens


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