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 ECE2
Gene summary
Basic gene Info.Gene symbolECE2
Gene nameendothelin converting enzyme 2
Synonyms-
CytomapUCSC genome browser: 3q27.1
Type of geneprotein-coding
RefGenesNM_001037324.2,
NM_001100120.1,NM_001100121.1,NM_014693.3,NM_032331.3,
Descriptionendothelin-converting enzyme 2
Modification date20141207
dbXrefs MIM : 610145
HGNC : HGNC
Ensembl : ENSG00000145194
HPRD : 09931
Vega : OTTHUMG00000150551
ProteinUniProt: O60344
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ECE2
BioGPS: 9718
PathwayNCI Pathway Interaction Database: ECE2
KEGG: ECE2
REACTOME: ECE2
Pathway Commons: ECE2
ContextiHOP: ECE2
ligand binding site mutation search in PubMed: ECE2
UCL Cancer Institute: ECE2
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:0016486peptide hormone processing11718899


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Ligand binding site mutations for ECE2
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
W26E24KBLCA1
G131G131CLUSC1
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 ECE2
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
W26E24K-1.1595188
G131G131C-0.32347809
(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 ECE2 from PDB

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Differential gene expression and gene-gene network for ECE2
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 ECE2 and the right PPI network was created from samples without mutations in the LBS of ECE2. 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 ECE2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for ECE2
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

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ECE2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SAHS-ADENOSYL-L-HOMOCYSTEINE2pxxAW26 G131


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Conservation information for LBS of ECE2
Multiple alignments for O60344 in multiple species
LBSAA sequence# speciesSpecies
A135KGTLDALLAGE1Homo sapiens
A135KGTLDAMLAGE1Mus musculus
A135CGTVDAL---P1Caenorhabditis elegans
A135AVIINTD---K1Caenorhabditis elegans
C67ILVLGCGNSAL2Homo sapiens, Mus musculus
C67-----------1Caenorhabditis elegans
C67DIPTPSGSPCF1Caenorhabditis elegans
D113RWETMDVRKLD1Homo sapiens
D113RWETMDVRALD1Mus musculus
D113-----------1Caenorhabditis elegans
D113WKSRTTMEKLL1Caenorhabditis elegans
D40DSAPYDWFGDF1Homo sapiens
D40DSGPYEWFGDF1Mus musculus
D40------MYTRF1Caenorhabditis elegans
D40-------YVHL1Caenorhabditis elegans
D88NVTSVDYSSVV1Homo sapiens
D88NVTSVDYSPVV1Mus musculus
D88-------GPPI1Caenorhabditis elegans
D88NAPARDEAPSV1Caenorhabditis elegans
G131VVLEKGTLDAL1Homo sapiens
G131VVLEKGTLDAM1Mus musculus
G131ALILCGTVDAL1Caenorhabditis elegans
G131AVLLAVIINTD1Caenorhabditis elegans
G66RILVLGCGNSA2Homo sapiens, Mus musculus
G66-----------1Caenorhabditis elegans
G66SDIPTPSGSPC1Caenorhabditis elegans
G68LVLGCGNSALS2Homo sapiens, Mus musculus
G68-----------1Caenorhabditis elegans
G68IPTPSGSPCF-1Caenorhabditis elegans
K130DVVLEKGTLDA2Homo sapiens, Mus musculus
K130-ALILCGTVDA1Caenorhabditis elegans
K130TAVLLAVIINT1Caenorhabditis elegans
M112LRWETMDVRKL1Homo sapiens
M112LRWETMDVRAL1Mus musculus
M112-----------1Caenorhabditis elegans
M112WWKSRTTMEKL1Caenorhabditis elegans
S70LGCGNSALSYE2Homo sapiens, Mus musculus
S70-----------1Caenorhabditis elegans
S70TPSGSPCF---1Caenorhabditis elegans
V114WETMDVRKLDF1Homo sapiens
V114WETMDVRALDF1Mus musculus
V114-----------1Caenorhabditis elegans
V114KSRTTMEKLLL1Caenorhabditis elegans
W26-----------2Caenorhabditis elegans, Caenorhabditis elegans
W26REVEYWDQRYQ1Homo sapiens
W26RQVQYWDQRYK1Mus musculus
W41SAPYDWFGDFS1Homo sapiens
W41SGPYEWFGDFA1Mus musculus
W41-----MYTRF-1Caenorhabditis elegans
W41------YVHLR1Caenorhabditis elegans
Y30-----------2Caenorhabditis elegans, Caenorhabditis elegans
Y30YWDQRYQGAAD1Homo sapiens
Y30YWDQRYKDAAD1Mus musculus
Y89VTSVDYSSVVV1Homo sapiens
Y89VTSVDYSPVVV1Mus musculus
Y89------GPPIV1Caenorhabditis elegans
Y89APARDEAPSVI1Caenorhabditis elegans


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