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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACE2 Gene

protein-coding GIFtS: 71
GCID: GC0XM015489

angiotensin I converting enzyme (peptidyl-dipeptidase A)...

Explore 45 diseases affiliated with
ACE2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Angiotensin I Converting Enzyme (Peptidyl-Dipeptidase A) 2¹ ²		Angiotensin I Converting Enzyme 2²
ACEH² ³ ⁵		Angiotensin-Converting Enzyme 2²
Angiotensin-Converting Enzyme Homolog² ³		EC 3.4.17.23³
Metalloprotease MPROT15² ³		EC 3.4.17⁸
ACE-Related Carboxypeptidase² ³

External Ids:	HGNC: 13557¹	Entrez Gene: 59272²	Ensembl: ENSG00000130234⁷	OMIM: 300335⁵	UniProtKB: Q9BYF1³

Export aliases for ACE2 gene to outside databases

Previous GC identifers: GC0XM015289 GC0XM014404 GC0XM014781 GC0XM014940 GC0XM015338 GC0XM013333

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACE2:

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)

UniProtKB/Swiss-Prot: ACE2_HUMAN, Q9BYF1

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

summary for ACE2:

Angiotensin-converting enzyme (ACE, aka peptidyl dipeptidase A, carboxycathepsin) cleaves a C-terminal

dipeptide from angiotensin I to create the vasoconstrictor peptide, angiotensin II. ACE can also inactivate

the vasodilator peptide, bradykinin. There are two isoforms of ACE, a smaller/single catalytic site enzyme

found in the testes and a more widely expressed ~180kDa dual active site isoform. ACE is often membrane

bound. In contrast to ACE, the homolog ACE2, has recently been shown to cleave and inactivate angiotensin II

to generate the vasodilator Angiotensin (1-7). ACE inhibitors are widely used to treat hypertension and

cardiovascular diseases. ACE inhibitors have also been used to slow nephropathy, particularly when it is

associated with diabetes.

Gene Wiki entry for ACE2 (Angiotensin-converting enzyme 2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_167197.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACE2 gene promoter:
c-Fos AP-1 Nkx2-5 YY1 GATA-1 IRF-2 FOXO1a c-Jun MRF-2 FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACE2 promoter sequence

Search SABiosciences Chromatin IP Primers for ACE2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACE2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22

ACE2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACE2 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM015489: view genomic region (about GC identifiers)

Start:	15,579,156 bp from pter	End:	15,620,271 bp from pter
Size:	41,116 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACE2_HUMAN, Q9BYF1 (See protein sequence)

Recommended Name: Angiotensin-converting enzyme 2 precursor

Size: 805 amino acids; 92463 Da

Cofactor: Binds 1 zinc ion per subunit

Cofactor: Binds 1 chloride ion per subunit

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

6/10 PDB 3D structures from and Proteopedia for ACE2 (see all 10):

1R42 (3D)

1R4L (3D)

1XJP (3D)

2AJF (3D)

3D0G (3D)

3D0H (3D)

Secondary accessions: C7ECU1 Q6UWP0 Q86WT0 Q9NRA7 Q9UFZ6

Alternative splicing: 2 isoforms: Q9BYF1-1 Q9BYF1-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACE2: NX_Q9BYF1

Post-translational modifications:

N-glycosylation on Asn-90 may limit SARS infectivity¹

Proteolytic cleavage by ADAM17 generates a secreted form¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BYF1

4/19 DME Specific Peptides for ACE2 (Q9BYF1) (see all 19)

PWTLALE

KWWEMKR

SFNFFVT

YPSYISP

ACE2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_068576.1

ENSEMBL proteins:

ENSP00000252519 ENSP00000389326

Reactome Protein details: Q9BYF1
Human Recombinant Protein Products:

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	Uscn Proteins for ACE2

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IDA	10969042
GO:0005615	extracellular space	IDA	18258853
GO:0005886	plasma membrane	IEA	--
GO:0009986	cell surface	IDA	18343844
GO:0016021	integral to membrane	IEA	--

ACE2 for ontologies About GeneDecksing

ACE2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ACE2
	R&D Systems Antibodies for ACE2 (ACE-2)
	Cell Signaling Technology (CST) Antibodies for ACE2
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	Novus Biologicals ACE2 Antibodies
	Abcam antibodies for ACE2
	Uscn Antibodies for ACE2
	ThermoFisher Antibody for ACE2

Assay Products for ACE2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript ACE2-Activity-based Protease Assay for Compound Screening
	Enzo Life Sciences assays for ACE2
	Uscn ELISAs and CLIAs for ACE2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACE2 for domains About GeneDecksing

1 InterPro domain/family:

IPR001548 Peptidase_M2

Graphical View of Domain Structure for InterPro Entry Q9BYF1

ProtoNet protein and cluster: Q9BYF1

1 Blocks protein family: IPB001548 Peptidyl-dipeptidase A (M2) metalloprotease family signature

UniProtKB/Swiss-Prot: ACE2_HUMAN, Q9BYF1

Similarity: Belongs to the peptidase M2 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACE2_HUMAN, Q9BYF1

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

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;

Induction: Up-regulated in failing heart

Enzyme Numbers (IUBMB): EC 3.4.17² EC 3.4.17.23¹

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACE2
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate ACE2:
		hsa-miR-942 hsa-miR-2052 hsa-miR-200c hsa-miR-429 hsa-miR-200b
		SwitchGear 3'UTR luciferase reporter plasmid: ACE2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACE2 (see all 7) OriGene shRNA RFP: ACE2 OriGene siRNA: ACE2
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACE2

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		GenScript: all cDNA clones in your preferred vector (see all 3): ACE2 (NM_138991)
		Sino Biological Human cDNA Clone for ACE2
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ACE2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACE2

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001618	viral receptor activity	IDA	18343844
GO:0001948	glycoprotein binding	IPI	18343844
GO:0004175	endopeptidase activity	IDA	15283675
GO:0004180	carboxypeptidase activity	IDA	18258853
GO:0008237	NOT metallopeptidase activity	IDA	10924499

ACE2 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for ACE2:

Decreased Salmonella enterica

Synthetic lethal with Ras

Animal Models:
Mouse knock-outs for ACE2: Ace2^tm1Hira Ace2^tm1Pngr Ace2^tm1Cof
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ace2):

cardiovascular system	cellular	homeostasis/metabolism	mortality/aging	muscle
renal/urinary system	respiratory system

ACE2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

	ACE Inhibitor Pathway, Pharmacodynamics	1.00			ACE Inhibitor Pathway	0.85
	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics	1.00

Renin-angiotensin system

Renin-angiotensin system

1.00

Metabolism of Angiotensinogen to Angiotensins

0.48

Protein Stability

Protein Stability

1.00

Selected targets of HNF1

Selected targets of HNF1

1.00

Selected targets of C/EBPalpha

Selected targets of C/EBPalpha

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for ACE2

	Selected targets of HNF1
	Selected targets of C/EBPalpha

1 R&D Systems Pathway for ACE2

A-beta Uptake & Degradation

1 Cell Signaling Technology (CST) Pathway for ACE2

Protein Stability

1 BioSystems Pathway for ACE2

ACE Inhibitor Pathway

3 Reactome Pathways for ACE2

	Metabolism of Angiotensinogen to Angiotensins
	Metabolism of proteins
	Peptide hormone metabolism

2 PharmGKB Pathways for ACE2

	ACE Inhibitor Pathway, Pharmacodynamics
	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for ACE2):

	Renin-angiotensin system
	Protein digestion and absorption

ACE2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACE2

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

5/13 Interacting proteins for ACE2 (Q9BYF1^{2, 3} ENSP00000252519⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM2	P62158²^,³	MINT-6175484 I2D: score=2
CALM3	P62158²^,³	MINT-6175484 I2D: score=2
CALM1	P62158²^,³, ENSP00000349467⁴	MINT-6175484 I2D: score=2 STRING: ENSP00000349467
AGT	P01019³, ENSP00000355627⁴	I2D: score=1 STRING: ENSP00000355627
GHRL	Q9UBU3³, ENSP00000335074⁴	I2D: score=1 STRING: ENSP00000335074

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001817	regulation of cytokine production	IC	15380922
GO:0002005	angiotensin catabolic process in blood	IC	10924499
GO:0003051	angiotensin-mediated drinking behavior	IMP	18258853
GO:0003081	regulation of systemic arterial blood pressure by renin-angiotensin	IMP	18258853
GO:0006508	proteolysis	IEA	--

ACE2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACE2 for compounds About GeneDecksing

EMD Millipore small molecules for ACE2:
Small Molecule - inhibitor

Enzo Life Sciences drugs & compounds for ACE2

Compounds for ACE2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Angiotensin I (human, mouse, rat)	Endogenous precursor to angiotensin II (Cat. No. 1158)	[484-42-4]
Benazepril hydrochloride	Angiotensin-converting enzyme (ACE) inhibitor	[86541-74-4]
Moexipril hydrochloride	Angiotensin-converting enzyme (ACE) inhibitor	[82586-52-5]

3 HMDB Compounds for ACE2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Angiotensin II	Hypertensin (see all 11)	11128-99-7	--
Apelin-13	prepro-65-77-apelin	--	--
Chlorine	Cl2 (see all 13)	16887-00-6	--

2 DrugBank Compounds for ACE2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Lisinopril	--	83915-83-7	target	inhibitor	1536695 11929321 11030016 11752352
Moexipril	Moexipril HCl (see all 3)	103775-10-6	target	inhibitor	7473177 11929321 11752352 15286086

10/14 Novoseek chemical compound relationships for ACE2 gene (see all 14) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lisinopril	49.7	6	15897343 (2), 10969042 (1), 14609329 (1), 10924499 (1)
eplerenone	47.5	3	18654024 (1), 16179584 (1)
ramipril	40.9	1	12623933 (1)
captopril	39.7	7	19141296 (1), 10969042 (1), 2159692 (1), 17473847 (1) (see all 6)
enalaprilat	29.5	2	2159692 (1), 10924499 (1)
zinc	28.3	10	12025971 (2), 12358520 (1), 15165741 (1), 18324760 (1) (see all 7)
nadph	7.85	4	16046899 (1), 19934006 (1), 16179584 (1)
nitric oxide	1.45	16	17906677 (2), 16574921 (1), 16962475 (1), 20424953 (1) (see all 6)
cholesterol	0	5	18814896 (2), 18279660 (1), 17000927 (1)
chloride	0	21	19021774 (5), 14609329 (4), 16008552 (2)

Search CenterWatch for drugs/clinical trials and news about ACE2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACE2 gene:

NM_021804.2

Unigene Cluster for ACE2:

Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2

Hs.178098 [show with all ESTs]

Unigene Representative Sequence: AB193259

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000252519(uc004cxa.1) ENST00000471548 ENST00000473851 ENST00000484756

ENST00000427411(uc004cxb.2)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACE2
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate ACE2:
		hsa-miR-942 hsa-miR-2052 hsa-miR-200c hsa-miR-429 hsa-miR-200b
		SwitchGear 3'UTR luciferase reporter plasmid: ACE2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACE2 (see all 7) OriGene shRNA RFP: ACE2 OriGene siRNA: ACE2
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACE2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACE2 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): ACE2 (NM_138991)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACE2
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACE2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACE2

Additional cDNA sequence:

AB046569.1 AB193259.1 AB193260.1 AF241254.1 AF291820.1 AK026461.1 AK315144.1 AL110224.1

AY623811.1 BC032938.1 BC039902.1 BC048094.1 BC048144.1 BC059378.1 GQ262784.1

6 DOTS entries:

DT.307623 DT.101981334 DT.121278420 DT.95307906 DT.121278416 DT.65286672

24/47 AceView cDNA sequences (see all 47):

BX097232 AL110224 AA421125 BC059378 AL551235 BC048094 AF241254 AK026461

NM_021804 CR599955 BC039902 AF291820 BX484152 AW611816 BC048144 AI928360

BP371391 AY623811 AA420969 AI628611 BC032938 AI831883 AB046569 CA487767

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ACE2 (see all 6) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16	^	17a	·
SP1:
SP2:																																													-
SP3:					-		-
SP4:																																					-		-
SP5:

ExUns:	17b	^	18	^	19	^	20
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ACE2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACE2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCAAGGAGA

About this image

ACE2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Metanephric Mesenchyme

Metanephric Mesenchyme Cells

Kidney

Ovary

Kidney

Kidney

Lower Urinary Tract

Reproductive System

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Human kidney epithelial cell spheroids (Kidney spheroids for...)

See ACE2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACE2

SOURCE GeneReport for Unigene cluster: Hs.178098

UniProtKB/Swiss-Prot: ACE2_HUMAN, Q9BYF1

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

SABiosciences Expression via Pathway-Focused PCR Array including ACE2:

Hypertension in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACE2

In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for ACE2 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ace2^{1 , 5}	angiotensin I converting enzyme (peptidyl-dipeptidase more^{1, 5}	85.22(n)¹ 82.11(a)¹		X (76.12 cM)⁵ 70008¹ NM_027286.4¹ NP_081562.2¹ 164139332⁵
chicken (Gallus gallus)	Aves	ACE2¹	angiotensin I converting enzyme (peptidyl-dipeptidase more	68.51(n) 67.04(a)		418623 XM_416822.2 XP_416822.2
lizard (Anolis carolinensis)	Reptilia	ACE2⁶	--	63(a)	1 ↔ 1	3(121502577-121544026)
zebrafish (Danio rerio)	Actinopterygii	BC053284.1²	--	72.89(n)		BC053284.1
worm (Caenorhabditis elegans)	Secernentea	acn-1¹	Protein ACN-1	41.12(n) 26.48(a)		180780 NM_001029282.2 NP_001024453.1

ENSEMBL Gene Tree for ACE2 (if available)
TreeFam Gene Tree for ACE2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ACE2 gene

TMEM27² ACE² ENSG00000264813²

2 SIMAP similar genes for ACE2 using alignment to 1 protein entry: ACE2_HUMAN:

ACE TMEM27

ACE2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4646115^1,2	C,F,H,	--	13373733(-)	`TTCTTA/GTTTGA`	1	--	us2k¹		11		NS EA NA	782
rs4646114^1,2	C,F,H,	--	13373846(-)	`TTTCCA/GTGTAT`	1	--	us2k¹		11		NS EA NA CSA	691
rs4646113^1,2	C,F,H,	--	13373922(-)	`AAAACC/TATACA`	1	--	us2k¹		12	--	NS EA NA	1358
rs4646112^1,2	C,F,	--	13374197(-)	`TACTCG/AGGAGG`	1	--	us2k¹		6		NS NA	276
rs111572878^1,2	C,	--	13374281(+)	`GTTAGC/TCAGGA`	1	--	us2k¹		1		CSA	1
rs113208650^1,2	C,	--	13374533(+)	`TTCTCT/CTTCAC`	1	--	us2k¹		1		CSA	1
rs7885856^1,2	C,F,H,	--	13375721(+)	`AAGGAG/ACCTGG`	1	--	int¹		10		NS EA NA	1184
rs112621533^1,2	C,	--	13376029(+)	`AAAATC/TGGAGA`	1	--	int¹		1		CSA	1
rs9698134^1,2	C,A,	--	13376217(+)	`tgcagT/Cggcgc`	1	--	int¹		1		CSA	1
rs9698150^1,2	C,A,	--	13376241(+)	`tgcaaC/Gctccg`	1	--	int¹		1		CSA	1

HapMap Linkage Disequilibrium report for ACE2 (15579156 - 15620271 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACE2: --
Locus Specific Mutation Databases (LSDB): ACE2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ACE2 for disorders           About GeneDecksing

OMIM gene information: 300335    OMIM disorders: --

20/45 diseases for ACE2 (see all 45):    About MalaCards

nephropathy hypertension posterior urethral valves tetanus neonatorum

aortic valve stenosis sars infection intracranial aneurysm severe acute respiratory syndrome

type 2 diabetes mellitus type 1 diabetes mellitus ventricular tachycardia congestive heart failure

diabetes mellitus neurogenic hypertension heart block essential hypertension

myocardial infarction atrial fibrillation urethritis pancreatic ductal adenocarcinoma

4 diseases from the University of Copenhagen DISEASES database for ACE2:

Severe acute respiratory syndrome Hypertension Hartnup disease Tetanus neonatorum

10/23 Novoseek disease relationships for ACE2 gene (see all 23) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
coronavirus infections	72.6	3	16581295 (1), 17974127 (1), 19297479 (1)
diabetic nephropathies	48.5	30	19077419 (7), 16211375 (4), 18389211 (3), 19034303 (2) (see all 8)
essential hypertension	36.5	20	16866021 (3), 16215952 (2), 17024138 (1), 20117991 (1) (see all 7)
renal disease	35.6	22	15538735 (5), 19034303 (4), 18367030 (2), 18371537 (2) (see all 10)
cardiovascular diseases	31	12	16009403 (2), 17703127 (2), 18258853 (1), 16822235 (1) (see all 6)
vesicular stomatitis	29.9	1	16690935 (1)
cardiomyopathy	29.5	4	17499227 (3), 15151696 (1)
heart failure	29.3	13	15151696 (3), 19700132 (2), 17499227 (2), 18718423 (2) (see all 8)
liver fibrosis	18.1	1	16166274 (1)
virus infection	15.4	4	15221932 (1), 18490652 (1), 15496474 (1), 16510163 (1)

Genetic Association Database (GAD): ACE2
Human Genome Epidemiology (HuGE) Navigator: ACE2 (31 documents)

Export disorders for ACE2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ACE2 gene, integrated from 9 sources (see all 295):
(articles sorted by number of sources associating them with ACE2)

Utopia: connect your pdf to the dynamic
world of online information

A novel angiotensin-converting enzyme-related carboxypeptidase (ACE2) converts angiotensin I to angiotensin 1-9. (PubMed id 10969042)^{1, 2, 3, 9} Donoghue M.... Acton S. (2000)
Tumor necrosis factor-alpha convertase (ADAM17) mediates regulated ectodomain shedding of the severe-acute respiratory syndrome- coronavirus (SARS-CoV) receptor, angiotensin-converting enzyme-2 (ACE2). (PubMed id 15983030)^{1, 2, 9} Lambert D.W.... Turner A.J. (2005)
Myocardial infarction increases ACE2 expression in rat and humans. (PubMed id 15671045)^{1, 2, 9} Burrell L.M....Johnston C.I. (2005)
ACE2 gene expression is up-regulated in the human failing heart. (PubMed id 15151696)^{1, 2, 9} Goulter A.B.... Clark K.L. (2004)
Efficient replication of severe acute respiratory syndrome coronavirus in mouse cells is limited by murine angiotensin-converting enzyme 2. (PubMed id 15452268)^{1, 2, 9} Li W.... Choe H. (2004)
Tissue distribution of ACE2 protein, the functional receptor for SARS coronavirus. A first step in understanding SARS pathogenesis. (PubMed id 15141377)^{1, 2, 9} Hamming I....van Goor H. (2004)
Association of angiotensin-converting enzyme 2 (ACE2) gene polymorphisms with parameters of left ventricular hypertrophy in men. Results of the MONICA Augsburg echocardiographic substudy. (PubMed id 16283142)^{1, 4, 9} Lieb W....Erdmann J. (2006)
Receptor and viral determinants of SARS-coronavirus adaptation to human ACE2. (PubMed id 15791205)^{1, 2, 9} Li W.... Farzan M. (2005)
Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy. (PubMed id 16211375)^{1, 4, 9} Frojdo S....Groop P.H. (2005)
The novel angiotensin-converting enzyme (ACE) homolog, ACE2, is selectively expressed by adult Leydig cells of the testis. (PubMed id 15231706)^{1, 2, 9} Douglas G.C.... Lew R.A. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 59272	HGNC: 13557	AceView: ACE2	Ensembl:ENSG00000130234	euGenes: HUgn59272
ECgene: ACE2	Kegg: 59272	H-InvDB: ACE2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ACE2	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ACE2	Genetics and Cytogenetics in Oncology and Haematology
SeattleSNPs	http://pga.gs.washington.edu/data/ace2/

Intellectual Property for ACE2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACE2 gene:
Search GeneIP for patents involving ACE2

GeneCards and IP:
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