Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ACE2 (angiotensin I converting enzyme 2)

Identity

Alias (NCBI)ACEH
HGNC (Hugo) ACE2
HGNC Alias namepeptidyl-dipeptidase A
HGNC Previous nameangiotensin I converting enzyme (peptidyl-dipeptidase A) 2
LocusID (NCBI) 59272
Atlas_Id 552
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 15561033 and ends at 15602158 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACE2 (Xp22.2) / UTP4 (16q22.1)

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
AliasesACEH
GeneCards (Weizmann)ACE2
Ensembl hg19 (Hinxton)ENSG00000130234 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130234 [Gene_View]  ENSG00000130234 [Sequence]  chrX:15561033-15602158 [Contig_View]  ACE2 [Vega]
ICGC DataPortalENSG00000130234
TCGA cBioPortalACE2
AceView (NCBI)ACE2
Genatlas (Paris)ACE2
WikiGenes59272
SOURCE (Princeton)ACE2
Genetics Home Reference (NIH)ACE2
Genomic and cartography
GoldenPath hg38 (UCSC)ACE2  -     chrX:15561033-15602158 -  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACE2  -     Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPathACE2 - Xp22.2 [CytoView hg19]  ACE2 - Xp22.2 [CytoView hg38]
ImmunoBaseENSG00000130234
genome Data Viewer NCBIACE2 [Mapview hg19]  
OMIM300335   
Gene and transcription
Genbank (Entrez)AB046569 AB193259 AB193260 AF241254 AF291820
RefSeq transcript (Entrez)NM_001371415 NM_021804
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACE2
Alternative Splicing GalleryENSG00000130234
Gene ExpressionACE2 [ NCBI-GEO ]   ACE2 [ EBI - ARRAY_EXPRESS ]   ACE2 [ SEEK ]   ACE2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACE2 [ Firebrowse - Broad ]
GenevisibleExpression of ACE2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)59272
GTEX Portal (Tissue expression)ACE2
Human Protein AtlasENSG00000130234-ACE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYF1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYF1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYF1
Splice isoforms : SwissVarQ9BYF1
PhosPhoSitePlusQ9BYF1
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)Collectrin_dom    Peptidase_M2   
Domain families : Pfam (Sanger)Collectrin (PF16959)    Peptidase_M2 (PF01401)   
Domain families : Pfam (NCBI)pfam16959    pfam01401   
Conserved Domain (NCBI)ACE2
DMDM Disease mutations59272
Blocks (Seattle)ACE2
PDB (RSDB)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ    3SCK    3SCL    6ACG    6ACJ    6ACK    6CS2    6M0J    6M17    6M18    6M1D    6VW1   
PDB Europe1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ    3SCK    3SCL    6ACG    6ACJ    6ACK    6CS2    6M0J    6M17    6M18    6M1D    6VW1   
PDB (PDBSum)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ    3SCK    3SCL    6ACG    6ACJ    6ACK    6CS2    6M0J    6M17    6M18    6M1D    6VW1   
PDB (IMB)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ    3SCK    3SCL    6ACG    6ACJ    6ACK    6CS2    6M0J    6M17    6M18    6M1D    6VW1   
Structural Biology KnowledgeBase1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ    3SCK    3SCL    6ACG    6ACJ    6ACK    6CS2    6M0J    6M17    6M18    6M1D    6VW1   
SCOP (Structural Classification of Proteins)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ    3SCK    3SCL    6ACG    6ACJ    6ACK    6CS2    6M0J    6M17    6M18    6M1D    6VW1   
CATH (Classification of proteins structures)1R42    1R4L    1XJP    2AJF    3D0G    3D0H    3D0I    3KBH    3SCI    3SCJ    3SCK    3SCL    6ACG    6ACJ    6ACK    6CS2    6M0J    6M17    6M18    6M1D    6VW1   
SuperfamilyQ9BYF1
Human Protein Atlas [tissue]ENSG00000130234-ACE2 [tissue]
Peptide AtlasQ9BYF1
HPRD02274
IPIIPI00465187   IPI00619939   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYF1
IntAct (EBI)Q9BYF1
FunCoupENSG00000130234
BioGRIDACE2
STRING (EMBL)ACE2
ZODIACACE2
Ontologies - Pathways
QuickGOQ9BYF1
Ontology : AmiGOvirus receptor activity  virus receptor activity  regulation of cytokine production  angiotensin maturation  angiotensin maturation  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  metallocarboxypeptidase activity  protein binding  extracellular region  extracellular space  extracellular space  cytoplasm  plasma membrane  plasma membrane  plasma membrane  metallopeptidase activity  peptidyl-dipeptidase activity  peptidyl-dipeptidase activity  zinc ion binding  cell surface  tryptophan transport  integral component of membrane  regulation of vasoconstriction  brush border membrane  receptor biosynthetic process  regulation of cell proliferation  membrane raft  viral entry into host cell  receptor-mediated virion attachment to host cell  regulation of inflammatory response  positive regulation of amino acid transport  positive regulation of cardiac muscle contraction  extracellular exosome  regulation of blood vessel diameter  positive regulation of gap junction assembly  regulation of cardiac conduction  positive regulation of reactive oxygen species metabolic process  
Ontology : EGO-EBIvirus receptor activity  virus receptor activity  regulation of cytokine production  angiotensin maturation  angiotensin maturation  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  metallocarboxypeptidase activity  protein binding  extracellular region  extracellular space  extracellular space  cytoplasm  plasma membrane  plasma membrane  plasma membrane  metallopeptidase activity  peptidyl-dipeptidase activity  peptidyl-dipeptidase activity  zinc ion binding  cell surface  tryptophan transport  integral component of membrane  regulation of vasoconstriction  brush border membrane  receptor biosynthetic process  regulation of cell proliferation  membrane raft  viral entry into host cell  receptor-mediated virion attachment to host cell  regulation of inflammatory response  positive regulation of amino acid transport  positive regulation of cardiac muscle contraction  extracellular exosome  regulation of blood vessel diameter  positive regulation of gap junction assembly  regulation of cardiac conduction  positive regulation of reactive oxygen species metabolic process  
Pathways : KEGGRenin-angiotensin system    Protein digestion and absorption   
NDEx NetworkACE2
Atlas of Cancer Signalling NetworkACE2
Wikipedia pathwaysACE2
Orthology - Evolution
OrthoDB59272
GeneTree (enSembl)ENSG00000130234
Phylogenetic Trees/Animal Genes : TreeFamACE2
HOGENOMQ9BYF1
Homologs : HomoloGeneACE2
Homology/Alignments : Family Browser (UCSC)ACE2
Gene fusions - Rearrangements
Fusion : QuiverACE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACE2
dbVarACE2
ClinVarACE2
MonarchACE2
1000_GenomesACE2 
Exome Variant ServerACE2
GNOMAD BrowserENSG00000130234
Varsome BrowserACE2
Genetic variants : HAPMAP59272
Genomic Variants (DGV)ACE2 [DGVbeta]
DECIPHERACE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACE2 
Mutations
ICGC Data PortalACE2 
TCGA Data PortalACE2 
Broad Tumor PortalACE2
OASIS PortalACE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACE2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DACE2
Mutations and Diseases : HGMDACE2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch ACE2
DgiDB (Drug Gene Interaction Database)ACE2
DoCM (Curated mutations)ACE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACE2 (select a term)
intoGenACE2
Cancer3DACE2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300335   
Orphanet
DisGeNETACE2
MedgenACE2
Genetic Testing Registry ACE2
NextProtQ9BYF1 [Medical]
TSGene59272
GENETestsACE2
Target ValidationACE2
Huge Navigator ACE2 [HugePedia]
snp3D : Map Gene to Disease59272
BioCentury BCIQACE2
ClinGenACE2
Clinical trials, drugs, therapy
Protein Interactions : CTD59272
Pharm GKB GenePA425
Pharm GKB PathwaysPA165110622   PA2023   
Clinical trialACE2
Miscellaneous
canSAR (ICR)ACE2 (select the gene name)
HarmonizomeACE2
DataMed IndexACE2
Probes
Litterature
PubMed316 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACE2
EVEXACE2
GoPubMedACE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 14 14:00:11 CEST 2020
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.