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mutLBSgeneDB |
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| Gene summary for MME |
 Gene summary |
| Basic gene Info. | Gene symbol | MME |
| Gene name | membrane metallo-endopeptidase | |
| Synonyms | CALLA|CD10|NEP|SFE | |
| Cytomap | UCSC genome browser: 3q25.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000902.3, NM_007287.2,NM_007288.2,NM_007289.2, | |
| Description | atriopeptidasecommon acute lymphocytic leukemia antigenenkephalinasemembrane metallo-endopeptidase (neutral endopeptidase, enkephalinase)membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10)membrane metallo-endopeptidase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 120520 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196549 | ||
| HPRD : 00392 | ||
| Vega : OTTHUMG00000158455 | ||
| Protein | UniProt: P08473 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MME | |
| BioGPS: 4311 | ||
| Pathway | NCI Pathway Interaction Database: MME | |
| KEGG: MME | ||
| REACTOME: MME | ||
| Pathway Commons: MME | ||
| Context | iHOP: MME | |
| ligand binding site mutation search in PubMed: MME | ||
| UCL Cancer Institute: MME | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for MME. | 1. Lim, C. B., Prêle, C. M., Cheah, H. M., Cheng, Y. Y., Klebe, S., Reid, G., ... & Mutsaers, S. E. (2013). Mutational analysis of hedgehog signaling pathway genes in human malignant mesothelioma. PloS one, 8(6), e66685. 23826113 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006508 | proteolysis | 20876573 | GO:0071345 | cellular response to cytokine stimulus | 20876573 | GO:0071492 | cellular response to UV-A | 20876573 | GO:0071493 | cellular response to UV-B | 20876573 |
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| Ligand binding site mutations for MME |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R103 | R103H | COAD | 2 | F107 | N106K | COAD | 1 | E585 | E585K | COAD | 1 | R103 | R103H | HNSC | 1 | R111 | D112H | LUAD | 1 | I559 | Q561H | LUSC | 1 | S548,Y546 | S547Y | LUSC | 1 | R103 | R103L | OV | 1 | H584 | H584R | UCEC | 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 MME |
| 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 |
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| 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 | R111 | D112H | 0.11227706 | R103 | R103H | -1.8169506 | R103 | R103L | -1.2574711 | F107 | N106K | -0.88761797 | I559 | Q561H | -0.84170287 | H584 | H584R | -0.64968062 | E585 | E585K | -0.3811231 | S548 | S547Y | -0.34323586 | Y546 | S547Y | -0.34323586 |
| (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 MME from PDB |
| PDB ID | PDB title | PDB structure | 1DMT | STRUCTURE OF HUMAN NEUTRAL ENDOPEPTIDASE COMPLEXED WITH PHOSPHORAMIDON |  |
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| Differential gene expression and gene-gene network for MME |
| 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 MME |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033578 | Prostatic Neoplasms | 8 | AlteredExpression, Biomarker |
| umls:C1458155 | Breast Neoplasms | 2 | AlteredExpression, Biomarker |
| umls:C2316212 | Cryopyrin-Associated Periodic Syndromes | 1 | Biomarker |
| umls:C0011882 | Diabetic Neuropathies | 1 | Biomarker |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | Biomarker |
| umls:C0273115 | Lung Injury | 1 | Biomarker |
| umls:C1565489 | Renal Insufficiency | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MME |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00616 | Candoxatril | Small molecule |  |
| Investigational | DB00886 | Omapatrilat | Small molecule |  |
| Experimental | DB02062 | N-[3-[(1-Aminoethyl)(Hydroxy)Phosphoryl]-2-(1,1'-Biphenyl-4-Ylmethyl)Propanoyl]Alanine | Small molecule |  |
| Experimental | DB02557 | Phosphoramidon | Small molecule |  |
| Experimental | DB02558 | N-(3-Phenyl-2-Sulfanylpropanoyl)Phenylalanylalanine | Small molecule |  |
| Experimental | DB02597 | [2(R,S)-2-Sulfanylheptanoyl]-Phe-Ala | Small molecule |  |
| Investigational | DB05796 | SLV 306 | Small molecule |  |
| Experimental | DB08575 | 2-[(1S)-1-BENZYL-2-SULFANYLETHYL]-1H-IMIDAZO[4,5-C]PYRIDIN-5-IUM | Small molecule |  |
| Experimental | DB08626 | Thiorphan | Small molecule |  |
| Approved | DB09292 | Sacubitril | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MME go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of MME |
| Multiple alignments for P08473 in multiple species |
| LBS | AA sequence | # species | Species | A544 | AAVVNAFYSSG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D108 | RYSNFDILRDE | 2 | Mus musculus, Rattus norvegicus | D108 | RYGNFDILRDE | 1 | Homo sapiens | E585 | MVIGHEITHGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E647 | INTLGENIADN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F107 | SRYSNFDILRD | 2 | Mus musculus, Rattus norvegicus | F107 | SRYGNFDILRD | 1 | Homo sapiens | F545 | AVVNAFYSSGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F564 | ILQPPFFSAQQ | 2 | Homo sapiens, Mus musculus | F564 | ILQPPFFSARQ | 1 | Rattus norvegicus | F690 | LFFLNFAQVWC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G696 | AQVWCGTYRPE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G715 | DVHSPGNFRII | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H584 | GMVIGHEITHG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H588 | GHEITHGFDDN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H712 | IKTDVHSPGNF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I559 | VFPAGILQPPF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M580 | YGGIGMVIGHE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N543 | GAAVVNAFYSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R103 | PETSSRYSNFD | 2 | Mus musculus, Rattus norvegicus | R103 | PETSSRYGNFD | 1 | Homo sapiens | R111 | NFDILRDELEV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R718 | SPGNFRIIGTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S548 | NAFYSSGRNQI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V542 | SGAAVVNAFYS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V581 | GGIGMVIGHEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V693 | LNFAQVWCGTY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V711 | SIKTDVHSPGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W694 | NFAQVWCGTYR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y104 | ETSSRYSNFDI | 2 | Mus musculus, Rattus norvegicus | Y104 | ETSSRYGNFDI | 1 | Homo sapiens | Y546 | VVNAFYSSGRN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y698 | VWCGTYRPEYA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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