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    ACE2 angiotensin converting enzyme 2 [ Homo sapiens (human) ]

    Gene ID: 59272, updated on 25-Jan-2022

    Summary

    Official Symbol
    ACE2provided by HGNC
    Official Full Name
    angiotensin converting enzyme 2provided by HGNC
    Primary source
    HGNC:HGNC:13557
    See related
    Ensembl:ENSG00000130234 MIM:300335; AllianceGenome:HGNC:13557
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACEH
    Summary
    The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
    Expression
    Biased expression in small intestine (RPKM 93.7), duodenum (RPKM 69.0) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ACE2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (15518197..15607211, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15536320..15620281, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PIR-FIGF readthrough Neighboring gene vascular endothelial growth factor D Neighboring gene pirin Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene HNRNPDL pseudogene 5 Neighboring gene dACE2 interferon-inducible promoter region Neighboring gene ACE2 promoter region Neighboring gene uncharacterized LOC104798195 Neighboring gene collectrin, amino acid transport regulator Neighboring gene nonconserved acetylation island sequence 104 enhancer Neighboring gene prothymosin alpha pseudogene 14

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp434A014

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxypeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metallocarboxypeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables metallopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidyl-dipeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables virus receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables virus receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiotensin maturation IC
    Inferred by Curator
    more info
    PubMed 
    involved_in angiotensin maturation TAS
    Traceable Author Statement
    more info
     
    involved_in angiotensin-mediated drinking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in blood vessel diameter maintenance IC
    Inferred by Curator
    more info
    PubMed 
    involved_in maternal process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of negative regulation of signaling receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of L-proline import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of amino acid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gap junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process IC
    Inferred by Curator
    more info
    PubMed 
    involved_in receptor-mediated virion attachment to host cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cardiac conduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cytokine production IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of systemic arterial blood pressure by renin-angiotensin IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of systemic arterial blood pressure by renin-angiotensin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of vasoconstriction IC
    Inferred by Curator
    more info
    PubMed 
    involved_in tryptophan transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in viral entry into host cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral entry into host cell TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane raft TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    angiotensin-converting enzyme 2
    Names
    ACE-related carboxypeptidase
    angiotensin I converting enzyme (peptidyl-dipeptidase A) 2
    angiotensin I converting enzyme 2
    angiotensin-converting enzyme homolog
    angiotensin-converting enzyme-related carboxypeptidase
    metalloprotease MPROT15
    peptidyl-dipeptidase A
    truncated angiotensin converting enzyme 2
    NP_001358344.1
    NP_001373188.1
    NP_001373189.1
    NP_001375381.1
    NP_001376331.1
    NP_068576.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012575.2 RefSeqGene

      Range
      6199..46126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001371415.1NP_001358344.1  angiotensin-converting enzyme 2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC097625
      Related
      ENSP00000252519.3, ENST00000252519.8
      Conserved Domains (2) summary
      pfam01401
      Location:19606
      Peptidase_M2; Angiotensin-converting enzyme
      pfam16959
      Location:617770
      Collectrin; Renal amino acid transporter
    2. NM_001386259.1NP_001373188.1  angiotensin-converting enzyme 2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate penultimate exon, compared to variant 1, resulting in a novel 3' coding region and alternate 3' UTR. It encodes isoform 2 which has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC097625
      Related
      ENSP00000504010.1, ENST00000679278.1
      Conserved Domains (2) summary
      pfam01401
      Location:19606
      Peptidase_M2; Angiotensin-converting enzyme
      pfam16959
      Location:617770
      Collectrin; Renal amino acid transporter
    3. NM_001386260.1NP_001373189.1  angiotensin-converting enzyme 2 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks multiple exons in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC097625
      Conserved Domains (2) summary
      pfam01401
      Location:19556
      Peptidase_M2; Angiotensin-converting enzyme
      pfam16959
      Location:557659
      Collectrin; Renal amino acid transporter
    4. NM_001388452.1NP_001375381.1  angiotensin-converting enzyme 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as dAce2 or MIRb-ACE2) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus, compared to isoform 1. This isoform lacks carboxypeptidase activity and cannot bind the SARS-CoV-2 spike protein.
      Source sequence(s)
      AC097625
      Related
      ENSP00000504747.1, ENST00000677282.1
      Conserved Domains (2) summary
      pfam16959
      Location:271424
      Collectrin; Renal amino acid transporter
      cl14813
      Location:11260
      GluZincin; Gluzincin Peptidase family (thermolysin-like proteinases, TLPs) which includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
    5. NM_001389402.1NP_001376331.1  angiotensin-converting enzyme 2 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC097625
      Conserved Domains (2) summary
      pfam01401
      Location:19556
      Peptidase_M2; Angiotensin-converting enzyme
      pfam16959
      Location:557659
      Collectrin; Renal amino acid transporter
    6. NM_021804.3NP_068576.1  angiotensin-converting enzyme 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_068576.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript, with a longer 5' UTR compared to variant 2. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AB193259, AC097625
      Consensus CDS
      CCDS14169.1
      UniProtKB/Swiss-Prot
      Q9BYF1
      Related
      ENSP00000389326.1, ENST00000427411.2
      Conserved Domains (2) summary
      pfam01401
      Location:19606
      Peptidase_M2; Angiotensin-converting enzyme
      pfam16959
      Location:617770
      Collectrin; Renal amino acid transporter

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      15518197..15607211 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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