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 ACE2
Gene summary
Basic gene Info.Gene symbolACE2
Gene nameangiotensin I converting enzyme 2
CytomapUCSC genome browser: Xp22
Type of geneprotein-coding
DescriptionACE-related carboxypeptidaseangiotensin I converting enzyme (peptidyl-dipeptidase A) 2angiotensin-converting enzyme 2angiotensin-converting enzyme homologmetalloprotease MPROT15peptidyl-dipeptidase A
Modification date20141207
dbXrefs MIM : 300335
Ensembl : ENSG00000130234
HPRD : 02274
Vega : OTTHUMG00000021177
ProteinUniProt: Q9BYF1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACE2
BioGPS: 59272
PathwayNCI Pathway Interaction Database: ACE2
Pathway Commons: ACE2
ContextiHOP: ACE2
ligand binding site mutation search in PubMed: ACE2
UCL Cancer Institute: ACE2
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0009615response to virus18343844
GO:0046813receptor-mediated virion attachment to host cell18343844

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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
(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

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)
* Left PPI network was created from samples with mutations in the LBS of ACE2 and the right PPI network was created from samples without mutations in the LBS of ACE2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ACE2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0020538Hypertension32Biomarker, GeneticVariation, Therapeutic
umls:C0011881Diabetic Nephropathies14AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0000786Abortion, Spontaneous1Biomarker
umls:C0553980Endomyocardial Fibrosis1Biomarker

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

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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00691MoexiprilSmall molecule
Approved|investigationalDB00722LisinoprilSmall molecule
InvestigationalDB05203SPP1148Small molecule
InvestigationalDB05358TAK-491Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACE2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
XX5MLN-47601r4lAR273 D368 E375

Conservation information for LBS of ACE2
Multiple alignments for Q9BYF1 in multiple species
LBSAA sequence# speciesSpecies
D368KVTMDNFLTAH2Mus musculus, Rattus norvegicus
D368KVTMDDFLTAH1Homo sapiens
D368QLGEPDFEQAH1Caenorhabditis elegans
E375LTAHHEMGHIQ3Homo sapiens, Mus musculus, Rattus norvegicus
E375EQAHSLLVQTY1Caenorhabditis elegans
E402NEGFHEAVGEI3Homo sapiens, Mus musculus, Rattus norvegicus
E402SPVITDAIANA1Caenorhabditis elegans
F504-PASLFHVSND3Homo sapiens, Mus musculus, Rattus norvegicus
F504NSVSQVHSPAT1Caenorhabditis elegans
H345RKVVCHP-TAW2Mus musculus, Rattus norvegicus
H345QKAVCHP-TAW1Homo sapiens
H345KDMICHPAAAL1Caenorhabditis elegans
H374FLTAHHEMGHI3Homo sapiens, Mus musculus, Rattus norvegicus
H374FEQAHSLLVQT1Caenorhabditis elegans
H378HHEMGHIQYDM3Homo sapiens, Mus musculus, Rattus norvegicus
H378HSLLVQTYYQY1Caenorhabditis elegans
H505PASLFHVSNDY3Homo sapiens, Mus musculus, Rattus norvegicus
H505SVSQVHSPATR1Caenorhabditis elegans
K475KDQWMKKWWEM1Homo sapiens
K475KNKLNDRWWEI1Caenorhabditis elegans
K475KEQWMKKWWEM1Mus musculus
K475REQWTKKWWEM1Rattus norvegicus
M360DFRIKMCTKVT2Mus musculus, Rattus norvegicus
M360DFRILMCTKVT1Homo sapiens
M360DFRVKACAQLG1Caenorhabditis elegans
P346KVVCHP-TAWD2Mus musculus, Rattus norvegicus
P346KAVCHP-TAWD1Homo sapiens
P346DMICHPAAALD1Caenorhabditis elegans
P492VVEPLPHDETY2Mus musculus, Rattus norvegicus
P492VVEPVPHDETY1Homo sapiens
P492VRSPQPYNTSN1Caenorhabditis elegans
R273GDMWGRFWTNL3Homo sapiens, Mus musculus, Rattus norvegicus
R273GSLDGGDWSAH1Caenorhabditis elegans
R514DYSFIRYYTRT3Homo sapiens, Mus musculus, Rattus norvegicus
R514TRTLISYVLK-1Caenorhabditis elegans
T371MDNFLTAHHEM2Mus musculus, Rattus norvegicus
T371MDDFLTAHHEM1Homo sapiens
T371EPDFEQAHSLL1Caenorhabditis elegans
Y510HVSNDYSFIRY3Homo sapiens, Mus musculus, Rattus norvegicus
Y510HSPATRTLISY1Caenorhabditis elegans
Y515YSFIRYYTRTI2Mus musculus, Rattus norvegicus
Y515YSFIRYYTRTL1Homo sapiens
Y515RTLISYVLK--1Caenorhabditis elegans

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