mutLBSgeneDB |
Gene summary for ECE2 |
Gene summary |
Basic gene Info. | Gene symbol | ECE2 |
Gene name | endothelin converting enzyme 2 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 3q27.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001037324.2, NM_001100120.1,NM_001100121.1,NM_014693.3,NM_032331.3, | |
Description | endothelin-converting enzyme 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 610145 | |
HGNC : HGNC | ||
Ensembl : ENSG00000145194 | ||
HPRD : 09931 | ||
Vega : OTTHUMG00000150551 | ||
Protein | UniProt: O60344 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ECE2 | |
BioGPS: 9718 | ||
Pathway | NCI Pathway Interaction Database: ECE2 | |
KEGG: ECE2 | ||
REACTOME: ECE2 | ||
Pathway Commons: ECE2 | ||
Context | iHOP: ECE2 | |
ligand binding site mutation search in PubMed: ECE2 | ||
UCL Cancer Institute: ECE2 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0016486 | peptide hormone processing | 11718899 |
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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 |
LBS | AAchange of nsSNV | Cancer type | # samples | W26 | E24K | BLCA | 1 | G131 | G131C | LUSC | 1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | W26 | E24K | -1.1595188 | G131 | G131C | -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) |
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Phenotype information for ECE2 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype 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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of ECE2 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2pxx | A | W26 G131 |
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Conservation information for LBS of ECE2 |
Multiple alignments for O60344 in multiple species |
LBS | AA sequence | # species | Species | A135 | KGTLDALLAGE | 1 | Homo sapiens | A135 | KGTLDAMLAGE | 1 | Mus musculus | A135 | CGTVDAL---P | 1 | Caenorhabditis elegans | A135 | AVIINTD---K | 1 | Caenorhabditis elegans | C67 | ILVLGCGNSAL | 2 | Homo sapiens, Mus musculus | C67 | ----------- | 1 | Caenorhabditis elegans | C67 | DIPTPSGSPCF | 1 | Caenorhabditis elegans | D113 | RWETMDVRKLD | 1 | Homo sapiens | D113 | RWETMDVRALD | 1 | Mus musculus | D113 | ----------- | 1 | Caenorhabditis elegans | D113 | WKSRTTMEKLL | 1 | Caenorhabditis elegans | D40 | DSAPYDWFGDF | 1 | Homo sapiens | D40 | DSGPYEWFGDF | 1 | Mus musculus | D40 | ------MYTRF | 1 | Caenorhabditis elegans | D40 | -------YVHL | 1 | Caenorhabditis elegans | D88 | NVTSVDYSSVV | 1 | Homo sapiens | D88 | NVTSVDYSPVV | 1 | Mus musculus | D88 | -------GPPI | 1 | Caenorhabditis elegans | D88 | NAPARDEAPSV | 1 | Caenorhabditis elegans | G131 | VVLEKGTLDAL | 1 | Homo sapiens | G131 | VVLEKGTLDAM | 1 | Mus musculus | G131 | ALILCGTVDAL | 1 | Caenorhabditis elegans | G131 | AVLLAVIINTD | 1 | Caenorhabditis elegans | G66 | RILVLGCGNSA | 2 | Homo sapiens, Mus musculus | G66 | ----------- | 1 | Caenorhabditis elegans | G66 | SDIPTPSGSPC | 1 | Caenorhabditis elegans | G68 | LVLGCGNSALS | 2 | Homo sapiens, Mus musculus | G68 | ----------- | 1 | Caenorhabditis elegans | G68 | IPTPSGSPCF- | 1 | Caenorhabditis elegans | K130 | DVVLEKGTLDA | 2 | Homo sapiens, Mus musculus | K130 | -ALILCGTVDA | 1 | Caenorhabditis elegans | K130 | TAVLLAVIINT | 1 | Caenorhabditis elegans | M112 | LRWETMDVRKL | 1 | Homo sapiens | M112 | LRWETMDVRAL | 1 | Mus musculus | M112 | ----------- | 1 | Caenorhabditis elegans | M112 | WWKSRTTMEKL | 1 | Caenorhabditis elegans | S70 | LGCGNSALSYE | 2 | Homo sapiens, Mus musculus | S70 | ----------- | 1 | Caenorhabditis elegans | S70 | TPSGSPCF--- | 1 | Caenorhabditis elegans | V114 | WETMDVRKLDF | 1 | Homo sapiens | V114 | WETMDVRALDF | 1 | Mus musculus | V114 | ----------- | 1 | Caenorhabditis elegans | V114 | KSRTTMEKLLL | 1 | Caenorhabditis elegans | W26 | ----------- | 2 | Caenorhabditis elegans, Caenorhabditis elegans | W26 | REVEYWDQRYQ | 1 | Homo sapiens | W26 | RQVQYWDQRYK | 1 | Mus musculus | W41 | SAPYDWFGDFS | 1 | Homo sapiens | W41 | SGPYEWFGDFA | 1 | Mus musculus | W41 | -----MYTRF- | 1 | Caenorhabditis elegans | W41 | ------YVHLR | 1 | Caenorhabditis elegans | Y30 | ----------- | 2 | Caenorhabditis elegans, Caenorhabditis elegans | Y30 | YWDQRYQGAAD | 1 | Homo sapiens | Y30 | YWDQRYKDAAD | 1 | Mus musculus | Y89 | VTSVDYSSVVV | 1 | Homo sapiens | Y89 | VTSVDYSPVVV | 1 | Mus musculus | Y89 | ------GPPIV | 1 | Caenorhabditis elegans | Y89 | APARDEAPSVI | 1 | Caenorhabditis elegans |
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