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

Gene ID: 59272, updated on 26-Jul-2021

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
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
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Genomic context

See ACE2 in Genome Data Viewer
Location:
Xp22.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 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 
acts_upstream_of negative regulation of signaling receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
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)

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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 109.20210514

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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