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mutLBSgeneDB |
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| Gene summary for ACE2 |
 Gene summary |
| Basic gene Info. | Gene symbol | ACE2 |
| Gene name | angiotensin I converting enzyme 2 | |
| Synonyms | ACEH | |
| Cytomap | UCSC genome browser: Xp22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021804.2, | |
| Description | ACE-related carboxypeptidaseangiotensin I converting enzyme (peptidyl-dipeptidase A) 2angiotensin-converting enzyme 2angiotensin-converting enzyme homologmetalloprotease MPROT15peptidyl-dipeptidase A | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300335 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000130234 | ||
| HPRD : 02274 | ||
| Vega : OTTHUMG00000021177 | ||
| Protein | UniProt: Q9BYF1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ACE2 | |
| BioGPS: 59272 | ||
| Pathway | NCI Pathway Interaction Database: ACE2 | |
| KEGG: ACE2 | ||
| REACTOME: ACE2 | ||
| Pathway Commons: ACE2 | ||
| Context | iHOP: ACE2 | |
| ligand binding site mutation search in PubMed: ACE2 | ||
| UCL Cancer Institute: ACE2 | ||
| 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:0009615 | response to virus | 18343844 | GO:0046813 | receptor-mediated virion attachment to host cell | 18343844 |
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| Ligand binding site mutations for ACE2 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | P492 | D494G | COAD | 1 | P492 | D494A | COAD | 1 | D368 | D367G | COAD | 1 | R273 | W271C | SKCM | 1 | R273 | R273K | UCEC | 1 | E375 | E375D | 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 ACE2 |
| 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 | D368 | D367G | -1.229441 | R273 | R273K | -1.1627414 | E375 | E375D | -0.89153997 | P492 | D494G | -0.81381447 | R273 | W271C | -0.68487146 | P492 | D494A | -0.61051986 |
| (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 ACE2 from PDB |
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| Differential gene expression and gene-gene network for ACE2 |
| 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 ACE2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0020538 | Hypertension | 32 | Biomarker, GeneticVariation, Therapeutic |
| umls:C0011881 | Diabetic Nephropathies | 14 | AlteredExpression, Biomarker, GeneticVariation, Therapeutic |
| umls:C0000786 | Abortion, Spontaneous | 1 | Biomarker |
| umls:C0553980 | Endomyocardial Fibrosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ACE2 |
| 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 | DB00691 | Moexipril | Small molecule |  |
| Approved|investigational | DB00722 | Lisinopril | Small molecule |  |
| Investigational | DB05203 | SPP1148 | Small molecule |  |
| Investigational | DB05358 | TAK-491 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ACE2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK,UNK) | 1r42 | A | P492 | XX5 | MLN-4760 | 1r4l | A | R273 D368 E375 |
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| Conservation information for LBS of ACE2 |
| Multiple alignments for Q9BYF1 in multiple species |
| LBS | AA sequence | # species | Species | D368 | KVTMDNFLTAH | 2 | Mus musculus, Rattus norvegicus | D368 | KVTMDDFLTAH | 1 | Homo sapiens | D368 | QLGEPDFEQAH | 1 | Caenorhabditis elegans | E375 | LTAHHEMGHIQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E375 | EQAHSLLVQTY | 1 | Caenorhabditis elegans | E402 | NEGFHEAVGEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E402 | SPVITDAIANA | 1 | Caenorhabditis elegans | F504 | -PASLFHVSND | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F504 | NSVSQVHSPAT | 1 | Caenorhabditis elegans | H345 | RKVVCHP-TAW | 2 | Mus musculus, Rattus norvegicus | H345 | QKAVCHP-TAW | 1 | Homo sapiens | H345 | KDMICHPAAAL | 1 | Caenorhabditis elegans | H374 | FLTAHHEMGHI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H374 | FEQAHSLLVQT | 1 | Caenorhabditis elegans | H378 | HHEMGHIQYDM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H378 | HSLLVQTYYQY | 1 | Caenorhabditis elegans | H505 | PASLFHVSNDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H505 | SVSQVHSPATR | 1 | Caenorhabditis elegans | K475 | KDQWMKKWWEM | 1 | Homo sapiens | K475 | KNKLNDRWWEI | 1 | Caenorhabditis elegans | K475 | KEQWMKKWWEM | 1 | Mus musculus | K475 | REQWTKKWWEM | 1 | Rattus norvegicus | M360 | DFRIKMCTKVT | 2 | Mus musculus, Rattus norvegicus | M360 | DFRILMCTKVT | 1 | Homo sapiens | M360 | DFRVKACAQLG | 1 | Caenorhabditis elegans | P346 | KVVCHP-TAWD | 2 | Mus musculus, Rattus norvegicus | P346 | KAVCHP-TAWD | 1 | Homo sapiens | P346 | DMICHPAAALD | 1 | Caenorhabditis elegans | P492 | VVEPLPHDETY | 2 | Mus musculus, Rattus norvegicus | P492 | VVEPVPHDETY | 1 | Homo sapiens | P492 | VRSPQPYNTSN | 1 | Caenorhabditis elegans | R273 | GDMWGRFWTNL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R273 | GSLDGGDWSAH | 1 | Caenorhabditis elegans | R514 | DYSFIRYYTRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R514 | TRTLISYVLK- | 1 | Caenorhabditis elegans | T371 | MDNFLTAHHEM | 2 | Mus musculus, Rattus norvegicus | T371 | MDDFLTAHHEM | 1 | Homo sapiens | T371 | EPDFEQAHSLL | 1 | Caenorhabditis elegans | Y510 | HVSNDYSFIRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y510 | HSPATRTLISY | 1 | Caenorhabditis elegans | Y515 | YSFIRYYTRTI | 2 | Mus musculus, Rattus norvegicus | Y515 | YSFIRYYTRTL | 1 | Homo sapiens | Y515 | RTLISYVLK-- | 1 | Caenorhabditis elegans |
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