Human Gene ACE2 (ENST00000427411.1) Description and Page Index
  Description: Homo sapiens angiotensin I converting enzyme 2 (ACE2), transcript variant 2, mRNA. (from RefSeq NM_021804)
RefSeq Summary (NM_021804): 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. The organ- and cell-specific expression of this gene 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 coronaviruses SARS and HCoV-NL63. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000427411.1
Gencode Gene: ENSG00000130234.10
Transcript (Including UTRs)
   Position: hg38 chrX:15,561,033-15,602,069 Size: 41,037 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg38 chrX:15,561,905-15,600,911 Size: 39,007 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:15,561,033-15,602,069)mRNA (may differ from genome)Protein (805 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ACE2_HUMAN
DESCRIPTION: RecName: Full=Angiotensin-converting enzyme 2; EC=3.4.17.23; AltName: Full=ACE-related carboxypeptidase; AltName: Full=Angiotensin-converting enzyme homolog; Short=ACEH; AltName: Full=Metalloprotease MPROT15; Contains: RecName: Full=Processed angiotensin-converting enzyme 2; Flags: Precursor;
FUNCTION: Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin- 13 and dynorphin-13 with high efficiency. May be an important regulator of heart function. In case of human coronaviruses SARS and HCoV-NL63 infections, serve as functional receptor for the spike glycoprotein of both coronaviruses.
CATALYTIC ACTIVITY: Angiotensin II + H(2)O = angiotensin-(1-7) + L-phenylalanine.
COFACTOR: Binds 1 zinc ion per subunit.
COFACTOR: Binds 1 chloride ion per subunit.
ENZYME REGULATION: Activated by chloride and fluoride, but not bromide. Inhibited by MLN-4760, cFP_Leu, and EDTA, but not by the ACE inhibitors linosipril, captopril and enalaprilat.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=6.9 uM for angiotensin I; KM=2 uM for angiotensin II; KM=6.8 uM for apelin-13; KM=5.5 uM for dynorphin-13; pH dependence: Optimum pH is 6.5 in the presence of 1 M NaCl. Active from pH 6 to 9;
SUBUNIT: Interacts with ITGB1. Interacts with SARS-CoV and HCoV- NL63 spike glycoprotein.
SUBCELLULAR LOCATION: Processed angiotensin-converting enzyme 2: Secreted.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expressed in heart, kidney, testis, and gastrointestinal system.
INDUCTION: Up-regulated in failing heart.
PTM: N-glycosylation on Asn-90 may limit SARS infectivity.
PTM: Proteolytic cleavage by ADAM17 generates a secreted form.
SIMILARITY: Belongs to the peptidase M2 family.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ace2/";

-  MalaCards Disease Associations
  MalaCards Gene Search: ACE2
Diseases sorted by gene-association score: severe acute respiratory syndrome (28), neurogenic hypertension (18), hartnup disorder (14), tetanus neonatorum (9), internal hemorrhoid (9), intracranial aneurysm (8), posterior urethral valves (6), hypertension, essential (2), myocardial infarction (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.78 RPKM in Small Intestine - Terminal Ileum
Total median expression: 90.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -56.80217-0.262 Picture PostScript Text
3' UTR -205.50872-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001548 - Peptidase_M2

Pfam Domains:
PF01401 - Angiotensin-converting enzyme

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1R42
- X-ray MuPIT

1R4L
- X-ray MuPIT

1XJP
- Model
To conserve bandwidth, only the images from the first 3 structures are shown.
2AJF - X-ray MuPIT 3D0G - X-ray MuPIT 3D0H - X-ray MuPIT
3D0I - X-ray MuPIT 3KBH - X-ray MuPIT 3SCI - X-ray MuPIT
3SCJ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BYF1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001618 virus receptor activity
GO:0004175 endopeptidase activity
GO:0004180 carboxypeptidase activity
GO:0004181 metallocarboxypeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
GO:0008237 metallopeptidase activity
GO:0008241 peptidyl-dipeptidase activity

Biological Process:
GO:0001817 regulation of cytokine production
GO:0002003 angiotensin maturation
GO:0003051 angiotensin-mediated drinking behavior
GO:0003081 regulation of systemic arterial blood pressure by renin-angiotensin
GO:0006508 proteolysis
GO:0015827 tryptophan transport
GO:0016032 viral process
GO:0019229 regulation of vasoconstriction
GO:0032800 receptor biosynthetic process
GO:0042127 regulation of cell proliferation
GO:0046718 viral entry into host cell
GO:0046813 receptor-mediated virion attachment to host cell
GO:0050727 regulation of inflammatory response
GO:0051957 positive regulation of amino acid transport
GO:0060452 positive regulation of cardiac muscle contraction
GO:0097746 regulation of blood vessel diameter
GO:1903598 positive regulation of gap junction assembly
GO:1903779 regulation of cardiac conduction
GO:2000379 positive regulation of reactive oxygen species metabolic process

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031526 brush border membrane
GO:0045121 membrane raft
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF291820 - Homo sapiens ACE-related carboxypeptidase ACE2 mRNA, complete cds.
BC048094 - Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2, mRNA (cDNA clone MGC:57146 IMAGE:5297380), complete cds.
BC048144 - Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2, mRNA (cDNA clone IMAGE:5297522).
AF241254 - Homo sapiens angiotensin converting enzyme-like protein mRNA, complete cds.
AB193260 - Homo sapiens ace2 mRNA for angiotensin-converting enzyme 2, complete cds, tissue_type: testis.
AB193259 - Homo sapiens ace2 mRNA for angiotensin-converting enzyme 2, complete cds, tissue_type: lung.
BC059378 - Homo sapiens cDNA clone IMAGE:5296531, partial cds.
BC039902 - Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2, mRNA (cDNA clone MGC:47598 IMAGE:5243048), complete cds.
AL110224 - Homo sapiens mRNA; cDNA DKFZp434A014 (from clone DKFZp434A014); partial cds.
BC032938 - Homo sapiens cDNA clone IMAGE:4830668, containing frame-shift errors.
AY358714 - Homo sapiens clone DNA79302 ACE2 (UNQ868) mRNA, complete cds.
AB046569 - Homo sapiens ace2 mRNA, complete cds.
AY623811 - Homo sapiens angiotensin converting enzyme 2 mRNA, complete cds.
GQ262784 - Homo sapiens angiotensin I converting enzyme 2 mRNA, complete cds.
AK315144 - Homo sapiens cDNA, FLJ96113, highly similar to Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.
AB591025 - Synthetic construct DNA, clone: pFN21AE2097, Homo sapiens ACE2 gene for angiotensin I converting enzyme (peptidyl-dipeptidase A) 2, without stop codon, in Flexi system.
KM576721 - Homo sapiens clone TMEM27-ACE2_T4-A2middle mRNA sequence.
KM576722 - Homo sapiens clone TMEM27-ACE2_T4-A2 mRNA sequence.
KM576723 - Homo sapiens clone TMEM27-ACE2_T5-A2middle mRNA sequence.
KM576724 - Homo sapiens clone TMEM27-ACE2_T5-A2 mRNA sequence.
AK026461 - Homo sapiens cDNA: FLJ22808 fis, clone KAIA2925.
JD347792 - Sequence 328816 from Patent EP1572962.
JD048407 - Sequence 29431 from Patent EP1572962.
JD428141 - Sequence 409165 from Patent EP1572962.
JD416694 - Sequence 397718 from Patent EP1572962.
JD291971 - Sequence 272995 from Patent EP1572962.
JD257961 - Sequence 238985 from Patent EP1572962.
JD078760 - Sequence 59784 from Patent EP1572962.
JD459432 - Sequence 440456 from Patent EP1572962.
JD295277 - Sequence 276301 from Patent EP1572962.
JD305565 - Sequence 286589 from Patent EP1572962.
JD515689 - Sequence 496713 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04614 - Renin-angiotensin system

BioCarta from NCI Cancer Genome Anatomy Project
h_ace2Pathway - Angiotensin-converting enzyme 2 regulates heart function

Reactome (by CSHL, EBI, and GO)

Protein Q9BYF1 (Reactome details) participates in the following event(s):

R-HSA-2022378 ACE2 hydrolyzes Angiotensin-(1-10) to Angiotensin-(1-9)
R-HSA-2022379 ACE2 hydrolyzes Angiotensin-(1-8) to Angiotensin-(1-7)
R-HSA-2022377 Metabolism of Angiotensinogen to Angiotensins
R-HSA-2980736 Peptide hormone metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ACE2_HUMAN, C7ECU1, NM_021804, Q6UWP0, Q86WT0, Q9BYF1, Q9NRA7, Q9UFZ6, uc004cxb.1, uc004cxb.2, UNQ868/PRO1885
UCSC ID: uc004cxb.2
RefSeq Accession: NM_021804
Protein: Q9BYF1 (aka ACE2_HUMAN)
CCDS: CCDS14169.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.