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ACE2 (angiotensin I converting enzyme 2)

Identity

Other namesACEH
HGNC (Hugo) ACE2
LocusID (NCBI) 59272
Location Xp22.2
Location_base_pair Starts at 15579156 and ends at 15620192 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACE2   13557
Cards
Entrez_Gene (NCBI)ACE2  59272  angiotensin I converting enzyme 2
GeneCards (Weizmann)ACE2
Ensembl (Hinxton)ENSG00000130234 [Gene_View]  chrX:15579156-15620192 [Contig_View]  ACE2 [Vega]
ICGC DataPortalENSG00000130234
cBioPortalACE2
AceView (NCBI)ACE2
Genatlas (Paris)ACE2
WikiGenes59272
SOURCE (Princeton)NM_021804
Genomic and cartography
GoldenPath (UCSC)ACE2  -  Xp22.2   chrX:15579156-15620192 -  Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblACE2 - Xp22.2 [CytoView]
Mapping of homologs : NCBIACE2 [Mapview]
OMIM300335   
Gene and transcription
Genbank (Entrez)AB046569 AB193259 AB193260 AF241254 AF291820
RefSeq transcript (Entrez)NM_021804
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_012575 NT_167197 NW_001842360 NW_004929438
Consensus coding sequences : CCDS (NCBI)ACE2
Cluster EST : UnigeneHs.178098 [ NCBI ]
CGAP (NCI)Hs.178098
Alternative Splicing : Fast-db (Paris)GSHG0031988
Alternative Splicing GalleryENSG00000130234
Gene ExpressionACE2 [ NCBI-GEO ]     ACE2 [ SEEK ]   ACE2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYF1 (Uniprot)
NextProtQ9BYF1  [Medical]
With graphics : InterProQ9BYF1
Splice isoforms : SwissVarQ9BYF1 (Swissvar)
Catalytic activity : Enzyme3.4.17.23 [ Enzyme-Expasy ]   3.4.17.233.4.17.23 [ IntEnz-EBI ]   3.4.17.23 [ BRENDA ]   3.4.17.23 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)Peptidase_M2 [organisation]  
Related proteins : CluSTrQ9BYF1
Domain families : Pfam (Sanger)Peptidase_M2 (PF01401)   
Domain families : Pfam (NCBI)pfam01401   
DMDM Disease mutations59272
Blocks (Seattle)Q9BYF1
PDB (SRS)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ   
PDB (PDBSum)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ   
PDB (IMB)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ   
PDB (RSDB)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ   
Human Protein AtlasENSG00000130234 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9BYF1
HPRD02274
IPIIPI00465187   IPI00619939   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYF1
IntAct (EBI)Q9BYF1
FunCoupENSG00000130234
BioGRIDACE2
InParanoidQ9BYF1
Interologous Interaction database Q9BYF1
IntegromeDBACE2
STRING (EMBL)ACE2
Ontologies - Pathways
Ontology : AmiGOvirus receptor activity  regulation of cytokine production  glycoprotein binding  angiotensin maturation  angiotensin catabolic process in blood  angiotensin-mediated drinking behavior  regulation of systemic arterial blood pressure by renin-angiotensin  regulation of systemic arterial blood pressure by renin-angiotensin  endopeptidase activity  carboxypeptidase activity  extracellular region  extracellular space  plasma membrane  proteolysis  metallopeptidase activity  peptidyl-dipeptidase activity  zinc ion binding  response to virus  cell surface  integral to membrane  peptide hormone binding  modulation by virus of host morphology or physiology  regulation of vasoconstriction  receptor biosynthetic process  regulation of cell proliferation  regulation of vasodilation  cellular protein metabolic process  membrane raft  viral entry into host cell  receptor-mediated virion attachment to host cell  regulation of inflammatory response  positive regulation of reactive oxygen species metabolic process  
Ontology : EGO-EBIvirus receptor activity  regulation of cytokine production  glycoprotein binding  angiotensin maturation  angiotensin catabolic process in blood  angiotensin-mediated drinking behavior  regulation of systemic arterial blood pressure by renin-angiotensin  regulation of systemic arterial blood pressure by renin-angiotensin  endopeptidase activity  carboxypeptidase activity  extracellular region  extracellular space  plasma membrane  proteolysis  metallopeptidase activity  peptidyl-dipeptidase activity  zinc ion binding  response to virus  cell surface  integral to membrane  peptide hormone binding  modulation by virus of host morphology or physiology  regulation of vasoconstriction  receptor biosynthetic process  regulation of cell proliferation  regulation of vasodilation  cellular protein metabolic process  membrane raft  viral entry into host cell  receptor-mediated virion attachment to host cell  regulation of inflammatory response  positive regulation of reactive oxygen species metabolic process  
Pathways : BIOCARTAAngiotensin-converting enzyme 2 regulates heart function [Genes]   
Pathways : KEGGRenin-angiotensin system    Protein digestion and absorption   
Protein Interaction DatabaseACE2
Wikipedia pathwaysACE2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACE2
snp3D : Map Gene to Disease59272
SNP (GeneSNP Utah)ACE2
SNP : HGBaseACE2
Genetic variants : HAPMAPACE2
Exome VariantACE2
1000_GenomesACE2 
ICGC programENSG00000130234 
Somatic Mutations in Cancer : COSMICACE2 
CONAN: Copy Number AnalysisACE2 
Mutations and Diseases : HGMDACE2
Genomic VariantsACE2  ACE2 [DGVbeta]
dbVarACE2
ClinVarACE2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300335   
MedgenACE2
GENETestsACE2
Disease Genetic AssociationACE2
Huge Navigator ACE2 [HugePedia]  ACE2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneACE2
Homology/Alignments : Family Browser (UCSC)ACE2
Phylogenetic Trees/Animal Genes : TreeFamACE2
Chemical/Protein Interactions : CTD59272
Chemical/Pharm GKB GenePA425
Clinical trialACE2
Cancer Resource (Charite)ENSG00000130234
Other databases
Probes
Litterature
PubMed175 Pubmed reference(s) in Entrez
CoreMineACE2
iHOPACE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:42:19 CEST 2014

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