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Aliases & Descriptionsfor ACE2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions angiotensin I converting enzyme (peptidyl-dipeptidase A) 21 2 DKFZp434A0142 ACEH2 3 5 angiotensin-converting enzyme 22 Metalloprotease MPROT152 3 angiotensin I converting enzyme 22 Angiotensin-converting enzyme homolog2 3 EC 3.4.17.233 ACE-related carboxypeptidase2 3
Export aliases for ACE2 gene to outside databases Previous GC identifers: GC0XM015289 GC0XM014404 GC0XM014781 GC0XM014940 GC0XM015338 GC0XM015489
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Summariesfor ACE2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
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) UniProtKB/Swiss-Prot: ACE2_HUMAN, Q9BYF1 Function : Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, andangiotensin 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-terminaldipeptide from angiotensin I to create the vasoconstrictor peptide, angiotensin II. ACE can also inactivatethe vasodilator peptide, bradykinin. There are two isoforms of ACE, a smaller/single catalytic site enzymefound in the testes and a more widely expressed ~180kDa dual active site isoform. ACE is often membranebound. In contrast to ACE, the homolog ACE2, has recently been shown to cleave and inactivate angiotensin IIto generate the vasodilator Angiotensin (1-7). ACE inhibitors are widely used to treat hypertension andcardiovascular diseases. ACE inhibitors have also been used to slow nephropathy, particularly when it isassociated with diabetes. Gene Wiki entry for ACE2 (Angiotensin-converting enzyme 2)
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Genomic Viewsfor ACE2 gene
(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 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the ACE2 gene promoter: NF-kappaB1 NF-kappaB FOXO1a Cart-1 POU3F2 NF-E2 p45 NF-E2 C/EBPbeta COUP-TF1 HNF-4alpha2 Other transcription factors Search SABiosciences Chromatin IP Primers for ACE2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays
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) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM013333: view genomic region
(about GC identifiers )
Start:
13,333,989 bp from pter
End:
13,374,656 bp from pter
Size:
40,668 bases
Orientation:
minus strand
1 alternative location : Chr X- 15,579,156-15,620,271
RefSeq DNA sequence: NC_000023.10 NT_167197.1
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Proteinsfor ACE2 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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
PDB structures from and Proteopedia : 1R42 (3D)
 1R4L (3D)
 1XJP (3D)
 2AJF (3D)
 3D0G (3D)
 3D0H (3D)
 3D0I (3D)
 3KBH (3D)
 
Secondary accessions : Q6UWP0 Q86WT0 Q9NRA7 Q9UFZ6Alternative splicing : 2 isoforms : Q9BYF1-1 Q9BYF1-2 Explore the universe of human proteins at neXtProt for ACE2: NX_Q9BYF1 Post-translational modifications:
N-glycosylation on Asn-90 may limit SARS infectivity1
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_068576.1 ENSEMBL proteins: ENSP00000389326 ENSP00000252519 Human Recombinant Proteins 5/7 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 7 ):
About this table
ACE2 for ontologies About GeneDecksing Antibodies for ACE2: Assays for ACE2:
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Protein
Domains/ Familiesfor ACE2 gene (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 :
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
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Gene Functionfor ACE2 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: ACE2_HUMAN, Q9BYF1 Function : Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, andangiotensin 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-phenylalanineEnzyme regulation : Activated by chloride and fluoride, but not bromide. Inhibited by MLN-4760, cFP_Leu, and EDTA, butnot 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 uMfor 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 heartEnzyme Number (IUBMB): EC 3.4.17.23
5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8 ):
About this table
ACE2 for ontologies About GeneDecksing Animal Models: 7 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ace2) :
ACE2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor ACE2 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section
ACE2 for pathways About GeneDecksing 2 Millipore Pathways for ACE2 2 Kegg Pathways (Kegg details for ACE2) : SABiosciences Pathway-Focused PCR Array including ACE2 : PAHS-037A SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACE2 3 Interacting proteins for ACE2 (Q9BYF1 2 ) via UniProtKB, MINT, and/or STRING About this table 5/14 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 14 ):
About this table
ACE2 for ontologies About GeneDecksing
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Drugs & Compoundsfor ACE2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section
ACE2 for compounds About GeneDecksing
Enzo Life Sciences drugs & compounds for ACE2
Compounds for ACE2 available from Tocris Bioscience About this table 10/14 Novoseek chemical compound relationships for ACE2 gene (see all 14 )
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)
About this table
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Transcriptsfor ACE2 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for ACE2 gene: NM_021804.2
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 CR599955.1 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 CR599955 BC048144 AF241254 NM_021804 AK026461 AW611816 AI928360 BC048094 BC059378 BP371391 AL551235 AL110224 BX484152 AA421125 AF291820 BC039902 AY623811 AA397955 AL574873 AL039738 BG428060 AW772472 BG401683
highest scoring ESTs for ACE2 :AB046569 AF241254 AF291820 BC032938 BC039902 BC048094 BC048144 BC059378 BG722079 BI561069 Unigene Cluster for ACE2:
Angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 Hs.178098 [show with all ESTs ] Unigene Representative Sequence: AB193259 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ACE2 (see all 6 ) 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 :        
About this scheme ECgene alternative splicing isoforms for ACE2 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000427411 (uc004cxa.1 uc004cxb.2 ) ENST00000484756 ENST00000473851 ENST00000471548 ENST00000252519
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Expression for ACE2 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section ACE2 expression in normal and diseased human tissues 1 / 2 / 3
5 probe-sets matching ACE2 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
51620_at2 , 3
U95-B
1
0.94
1.00
1.00
1.00
AI628611
0.60
1.00
0.82
1
222257_s_at2 , 3
U133-A
1
1.00
1.00
--
--
AK026461
0.60
1.00
0.82
1
219962_at2 , 3
U133-A
1
1.00
1.00
--
--
NM_021804
0.60
1.00
0.82
1
222257_s_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
219962_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
About this table
ACE2 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCCAAGGAGA 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 : PAHS-037A
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Orthologsfor ACE2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for ACE2 gene from 5/8 species (see all 8 )
About this table Species with no ortholog for ACE2 ENSEMBL Gene Tree for ACE2 (if available)
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Paralogsfor ACE2 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for ACE2 gene ACE 2 TMEM27 2
ACE2 for paralogs About GeneDecksing
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Genomic Variantsfor ACE2 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr X pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for ACE2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for ACE2: --
QIAGEN SeqTarget long-range PCR primers for resequencing ACE2
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Disorders & Mutationsfor ACE2 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
ACE2 for disorders About GeneDecksing
OMIM: 300335 10/23 Novoseek disease relationships for ACE2 gene (see all 23 )
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)
About this table Locus Specific Mutation Databases (LSDB): ACE2 Genetic Association Database (GAD): ACE2 Human Genome Epidemiology (HuGE) Navigator: ACE2 (30 documents) Export disorders and mutations for ACE2 gene to outside databases
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Medical Newsfor ACE2 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor ACE2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/254 PubMed articles for ACE2 gene, integrated from 7 sources (see all 254 ): (articles sorted by number of sources associating them with ACE2) A novel angiotensin-converting enzyme-related carboxypeptidase (ACE2) converts angiotensin I to angiotensin 1-9. (PubMed id 10969042) 1 , 2 , 3, 7 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 , 7 Lambert D.W.... Turner A.J. (2005) Myocardial infarction increases ACE2 expression in rat and humans. (PubMed id 15671045) 1 , 2 , 7 Burrell L.M....Johnston C.I. (2005) ACE2 gene expression is up-regulated in the human failing heart. (PubMed id 15151696) 1 , 2 , 7 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 , 7 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 , 7 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, 7 Lieb W....Erdmann J. (2006) Polymorphisms in the gene encoding angiotensin I converting enzyme 2 and diabetic nephropathy. (PubMed id 16211375) 1 , 4, 7 Frojdo S....Groop P.H. (2005) Receptor and viral determinants of SARS-coronavirus adaptation to human ACE2. (PubMed id 15791205) 1 , 2 , 7 Li W.... Farzan M. (2005) The novel angiotensin-converting enzyme (ACE) homolog, ACE2, is selectively expressed by adult Leydig cells of the testis. (PubMed id 15231706) 1 , 2 , 7 Douglas G.C.... Lew R.A. (2004)
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About This Section Patent Information for ACE2 gene: Search GeneIP for patents involving ACE2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor ACE2 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
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