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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACE Gene

protein-coding   GIFtS: 71
GCID: GC17P061554

Angiotensin I Converting Enzyme

(Previous name: angiotensin I converting enzyme (peptidyl-dipeptidase A)...)
(Previous symbol: DCP1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Angiotensin I Converting Enzyme1 2     ICH2
DCP11 2 3 5     Angiotensin Converting Enzyme, Somatic Isoform2
Angiotensin I Converting Enzyme (Peptidyl-Dipeptidase A) 11 2     Angiotensin I Converting Enzyme Peptidyl-Dipeptidase A 1 Transcript2
Dipeptidyl Carboxypeptidase I2 3     Angiotensin-Converting Enzyme2
Kininase II2 3     carboxycathepsin2
DCP2 3     Dipeptidyl Carboxypeptidase 12
CD143 Antigen2 3     Peptidase P2
ACE12 5     Testicular ECA2
MVCD32 5     EC 3.2.1.-3
Peptidyl-Dipeptidase A1     EC 3.4.15.13
CD1432     

External Ids:    HGNC: 27071   Entrez Gene: 16362   Ensembl: ENSG000001596407   OMIM: 1061805   UniProtKB: P128213   

Export aliases for ACE gene to outside databases

Previous GC identifers: GC17P061205 GC17P063980 GC17P061895 GC17P062027 GC17P058908 GC17P056922


(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 ACE Gene:
This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active
peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls
blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many
studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of
circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants
encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form
and the testicular form, respectively, that are equally active. (provided by RefSeq, May 2010)

GeneCards Summary for ACE Gene: 
ACE (angiotensin I converting enzyme) is a protein-coding gene. Diseases associated with ACE include neurosarcoidosis, and fluid and electrolyte balance, and among its related super-pathways are ACE Inhibitor Pathway and Metabolism of Angiotensinogen to Angiotensins. GO annotations related to this gene include drug binding and actin binding. An important paralog of this gene is TMEM27.

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
Function: Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase
of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has
also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose
linkage in the GPI moiety

summary for ACE Gene:
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 ACE (Angiotensin-converting enzyme) Gene

PharmGKB "VIP" summary for ACE


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACE gene promoter:
         Sp1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACE promoter sequence
   Search SABiosciences Chromatin IP Primers for ACE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACE


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

Entrez Gene cytogenetic band: 17q23.3   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23.3

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P061554:  view genomic region     (about GC identifiers)

Start:
61,554,422 bp from pter      End:
61,599,205 bp from pter
Size:
44,784 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACE_HUMAN, P12821 (See protein sequence)
Recommended Name: Angiotensin-converting enzyme precursor  
Size: 1306 amino acids; 149715 Da
Cofactor: Binds 2 zinc ions per subunit. Isoform Testis-specific only binds 1 zinc ion per subunit
Cofactor: Binds 3 chloride ions per subunit
Subcellular location: Angiotensin-converting enzyme, soluble form: Secreted
Subcellular location: Cell membrane; Single-pass type I membrane protein
Miscellaneous: Inhibitors of ACE are commonly used to treat hypertension and some types of renal and cardiac
dysfunction
Miscellaneous: The glycosidase activity probably uses different active site residues than the metalloprotease
activity
Sequence caution: Sequence=BAD92208.1; Type=Erroneous initiation;
6/18 PDB 3D structures from and Proteopedia for ACE (see all 18):
1O86 (3D)        1O8A (3D)        1UZE (3D)        1UZF (3D)        2C6F (3D)        2C6N (3D)    
Secondary accessions: B0LPF0 B4DXI3 E7EU16 P22966 Q53YX9 Q59GY8 Q7M4L4
Alternative splicing: 4 isoforms:  P12821-1   P12821-2   P12821-3, P22966-1   P12821-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACE: NX_P12821

Explore proteomics data for ACE at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by CK2 on Ser-1299; which allows membrane retention
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12821

  • ACE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACE Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000780.1  NP_001171528.1  NP_690043.1  

    ENSEMBL proteins: 
     ENSP00000462995   ENSP00000290866   ENSP00000462280   ENSP00000463302   ENSP00000463673  
     ENSP00000290863   ENSP00000462002   ENSP00000462110   ENSP00000392247   ENSP00000462599  
     ENSP00000464629   ENSP00000462909   ENSP00000464428   ENSP00000397593   ENSP00000439591  
     ENSP00000464539   ENSP00000387760  
    Reactome Protein details: P12821
    Human Recombinant Protein Products for ACE: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ACE (ACE/CD143)
    Enzo Life Sciences proteins for ACE
    OriGene Purified Protein for ACE
    OriGene Protein Over-expression Lysate for ACE
    OriGene MassSpec for ACE 
    OriGene Custom Protein Services for ACE
    GenScript Custom Purified and Recombinant Proteins Services for ACE
    Novus Biologicals ACE Protein
    Novus Biologicals ACE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACE 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA15283675
    GO:0005768endosome IDA17077303
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane IDA9449382

    ACE for ontologies           About GeneDecksing



    ACE Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACE
    R&D Systems Antibodies for ACE (ACE/CD143)
    OriGene Antibodies for ACE
    OriGene Custom Antibody Services for ACE
    GenScript Custom Superior Antibodies Services for ACE
    Novus Biologicals ACE Antibodies
    Abcam antibodies for ACE
    Cloud-Clone Corp. Antibodies for ACE 
    ThermoFisher Antibodies for ACE
    LSBio Antibodies in human, mouse, rat for ACE 

    Assay Products for ACE: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACE
    R&D Systems ELISAs for ACE (ACE/CD143)         (see first)
    R&D Systems Proteome Profiler Antibody Arrays for ACE (ACE/CD143)
    See all other biochemical assays at R&D Systems
    GenScript ACE-Activity-based Protease Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACE 
    Cloud-Clone Corp. CLIAs for ACE


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Angiotensin-converting enzyme 1 
    Endopeptidases

    1 InterPro protein domain:
     IPR001548 Peptidase_M2

    Graphical View of Domain Structure for InterPro Entry P12821

    ProtoNet protein and cluster: P12821

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

    UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
    Similarity: Belongs to the peptidase M2 family


    ACE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACE_HUMAN, P12821
    Function: Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase
    of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has
    also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose
    linkage in the GPI moiety
    Catalytic activity: Release of a C-terminal dipeptide, oligopeptide- -Xaa-Yaa, when Xaa is not Pro, and Yaa is
    neither Asp nor Glu. Thus, conversion of angiotensin I to angiotensin II, with increase in vasoconstrictor
    activity, but no action on angiotensin II
    Enzyme regulation: Strongly activated by chloride. Specifically inhibited by lisinopril, captopril and enalaprilat
    Biophysicochemical properties: Kinetic parameters: KM=2.51 mM for Hip-His-Leu;
    Induction: Up-regulated in failing heart

         Enzyme Numbers (IUBMB): EC 3.2.1.-1 EC 3.4.15.11

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA16186248
    GO:0004175endopeptidase activity IDA15283675
    GO:0004180carboxypeptidase activity IEA--
    GO:0005515protein binding IPI16186248
    GO:0008144drug binding IDA1320019
         
    ACE for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ACE:
     Increased gamma-H2AX phosphory 

         14 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Ace):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  renal/urinary system  reproductive system  tumorigenesis 

    ACE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ACE: Acetm1Mcf Acetm1Unc Acetm2Unc Acetm1Keb Acetm4Keb Acetm2Keb

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACE 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACE 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACE 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACE
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ACE (see all 9):
    hsa-miR-4297 hsa-miR-27a hsa-miR-513a-5p hsa-miR-340 hsa-miR-3126-5p hsa-miR-3119 hsa-miR-630 hsa-miR-1286
    SwitchGear 3'UTR luciferase reporter plasmidACE 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ACE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACE

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACE
    Sirion Biotech Customized adenovirus for overexpression of ACE

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ACE (see all 17)
    OriGene ORF clones in mouse, rat for ACE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ACE (NM_000789)
    Sino Biological Human cDNA Clone for ACE
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACE
    Sirion Biotech Customized lentivirus for stable overexpression of ACE 
                         Customized lentivirus expression plasmids for stable overexpression of ACE 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ACE
    Search LifeMap BioReagents cell lines for ACE
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACE


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACE About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    ACE Inhibitor Pathway0.85
    ACE Inhibitor Pathway, Pharmacodynamics0.85
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.85
    2Renin-angiotensin system
    Renin-angiotensin system0.43
    Metabolism of Angiotensinogen to Angiotensins0.43
    3PKA activation in glucagon signalling
    Transcription CREM signaling in testis0.96
    4Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    5p70S6K Signaling
    Renin-Angiotensin Pathway0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for ACE
        A-beta Uptake & Degradation
    A-beta Plaque Formation & APP Metabolism

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ACE
        Renin-Angiotensin Pathway

    1 GeneGo (Thomson Reuters) Pathway for ACE
        Transcription CREM signaling in testis

    1 BioSystems Pathway for ACE
        ACE Inhibitor Pathway


    3        Reactome Pathways for ACE
        Metabolism of Angiotensinogen to Angiotensins
    Metabolism of proteins
    Peptide hormone metabolism

    2 PharmGKB Pathways for ACE
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for ACE):
        Renin-angiotensin system
    Chagas disease (American trypanosomiasis)
    Hypertrophic cardiomyopathy (HCM)


    ACE for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for ACE (P128213 ENSP000002908664) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTR2P500523, ENSP000003609734I2D: score=1 STRING: ENSP00000360973
    COMTP219643, ENSP000003545114I2D: score=1 STRING: ENSP00000354511
    BDKRB2P304113, ENSP000003077134I2D: score=1 STRING: ENSP00000307713
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ACE2ENSP000002525194STRING: ENSP00000252519
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IMP16116425
    GO:0001974blood vessel remodeling IC1668266
    GO:0002003angiotensin maturation TAS--
    GO:0002005angiotensin catabolic process in blood IC1668266
    GO:0002019regulation of renal output by angiotensin IC1668266

    ACE for ontologies           About GeneDecksing



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

    ACE for compounds           About GeneDecksing

    EMD Millipore small molecules for ACE:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for ACE

    Compounds for ACE available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Benazepril hydrochlorideAngiotensin-converting enzyme (ACE) inhibitor[86541-74-4]
    Moexipril hydrochlorideAngiotensin-converting enzyme (ACE) inhibitor[82586-52-5]
    Perindopril erbumineAngiotensin-converting enzyme (ACE) inhibitor[107133-36-8]

    5 HMDB Compounds for ACE    About this table
    CompoundSynonyms CAS #PubMed Ids
    Angiotensin IIHypertensin (see all 11)11128-99-7--
    BradykininCallidin I (see all 5)58-82-2--
    ChlorineCl2 (see all 13)16887-00-6--
    LisinoprilAcerbon (see all 34)83915-83-7--
    ZincZinc (see all 2)7440-66-6--

    10/17 DrugBank Compounds for ACE (see all 17)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CaptoprilCaptoprilum [INN-Latin] (see all 3)62571-86-2targetinhibitor20014331 17618628 11929321 11030016 15236580 11752352 16889963
    Cilazapril-- 92077-78-6targetinhibitor18423812 10398211 1382157 11752352 10446934 1382161 10205231
    Lisinopril-- 83915-83-7targetinhibitor17618628 9506845 11929321 11030016 11752352
    Spirapril-- 83647-97-6targetinhibitor11929321 20524801 11752352 12613273 16126915
    EnalaprilEnalapril Maleate (see all 4)75847-73-3targetinhibitor17618628 16424790 15236580 11752352
    Fosinopril-- 98048-97-6targetinhibitor2836111 11329095 11030016 11752352
    MoexiprilMoexipril HCl (see all 3)103775-10-6targetinhibitor7473177 11929321 11752352 15286086
    Perindopril-- 107133-36-8targetinhibitor16370923 11929321 11752352 19379059
    QuinaprilQuinapril HCl (see all 3)85441-61-8targetinhibitor11929321 11752352 3020249 11817979
    Ramipril-- 87333-19-5targetinhibitor16398929 11929321 11030016 11752352

    1 IUPHAR Ligand for ACE (Angiotensin-converting enzyme 1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    captopril
    InhibitorInhibition--

    10/127 Novoseek inferred chemical compound relationships for ACE gene (see all 127)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enalapril 93.5 720 7742150 (6), 11205963 (5), 1330361 (4), 9723634 (4) (see all 99)
    captopril 92.7 883 1847704 (5), 16394648 (5), 1330361 (4), 8074019 (4) (see all 99)
    lisinopril 92.4 420 9061270 (4), 1327597 (4), 8891468 (4), 18483087 (4) (see all 99)
    ramipril 91.6 389 12423701 (4), 1837563 (3), 1725019 (3), 12639174 (3) (see all 99)
    perindopril 90.3 384 9236432 (6), 1327597 (5), 19379059 (5), 10800878 (4) (see all 99)
    fosinopril 88.4 164 1646240 (4), 7919557 (3), 8861547 (3), 8934359 (3) (see all 98)
    quinapril 88.3 255 7527326 (7), 9049577 (5), 10024837 (4), 2068835 (4) (see all 99)
    enalaprilat 88.2 223 10082496 (4), 9815869 (4), 11827728 (3), 1656995 (3) (see all 99)
    trandolapril 86.4 138 7527095 (5), 9829159 (4), 12669106 (3), 17711535 (3) (see all 93)
    cilazapril 85.9 145 7614501 (4), 11108164 (4), 1689417 (3), 2139303 (3) (see all 97)

    7 PharmGKB related drug/compound annotations for ACE gene    About this table
    Drug/compound PharmGKB Annotation
    acetylcholineCA  
    captoprilCA  
    enalaprilCA  
    hydrochlorothiazideCA  
    nitroprussideCA  
    sildenafilCA  
    spironolactoneCA  

    Search CenterWatch for drugs/clinical trials and news about ACE

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACE gene (4 alternative transcripts): 
    NM_000789.3  NM_001178057.1  NM_152830.2  NM_152831.1  

    Unigene Cluster for ACE:

    Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
    Hs.298469  [show with all ESTs]
    Unigene Representative Sequence: JQ927553
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000583336 ENST00000584529 ENST00000582678(uc010ddu.2) ENST00000579462(uc010wph.2)
    ENST00000290866(uc002jau.2) ENST00000582627 ENST00000580318 ENST00000579726
    ENST00000290863(uc002jav.2 uc010wpj.2 uc010wpk.2) ENST00000582005
    ENST00000578839 ENST00000413513 ENST00000579314(uc010ddv.2) ENST00000579204
    ENST00000584865 ENST00000582761 ENST00000577418 ENST00000583645
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACE
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ACE (see all 9):
    hsa-miR-4297 hsa-miR-27a hsa-miR-513a-5p hsa-miR-340 hsa-miR-3126-5p hsa-miR-3119 hsa-miR-630 hsa-miR-1286
    SwitchGear 3'UTR luciferase reporter plasmidACE 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB208971.1 AK296566.1 AK301988.1 J04144.1 JQ927553.1 M26657.1 S81361.1 X16295.1 

    13 DOTS entries:

    DT.450544  DT.95220519  DT.100790782  DT.75103816  DT.100790780  DT.86854701  DT.100790785  DT.95220571 
    DT.100770455  DT.100776952  DT.40116291  DT.95220617  DT.95322212 

    24/223 AceView cDNA sequences (see all 223):

    BF475825 NM_152830 NM_152831 BI826471 NM_000789 BG152896 BE783248 BM984583 
    AW772527 AI371868 AW772446 BX380082 AW003214 H27155 BI831717 BF196049 
    AI096704 BE382576 BM712523 CD364763 BE464066 BQ020350 J04144 BQ881320 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for ACE (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17 ^ 18a · 18b ^
    SP1:        -           -                                                                                   -     -     -     -           -     -           -   
    SP2:                                                                                                                                      -     -           -   
    SP3:                                                                                                                                      -     -           -   
    SP4:                                                                                                                          -           -     -           -   
    SP5:                                                                                                                                      -     -               

    ExUns: 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b
    SP1:  -                 -                                         -                                       
    SP2:  -                 -                                         -                                       
    SP3:  -                                                           -                                       
    SP4:  -                 -                                                                                 
    SP5:  -                 -                                                                                 


    ECgene alternative splicing isoforms for ACE

    (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

    ACE expression in normal human tissues (normalized intensities)      ACE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGAAGCT
    ACE Expression
    About this image


    ACE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/10 selected tissues (see all 10) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
             kidney ; cells in tubules   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Monocytes Peripheral Blood
             monocyte-derived dendritic cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Fourth Ventricle
             brain/forebrain/telencephalon   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.298469

    UniProtKB/Swiss-Prot: ACE_HUMAN, P12821
    Tissue specificity: Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system
    and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis

        SABiosciences Expression via Pathway-Focused PCR Arrays including ACE: 
              Hypertension in human mouse rat
              Endothelial Cell Biology in human mouse rat
              Atherosclerosis in human mouse rat
              Diabetes in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACE

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACE gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ace1 , 5 angiotensin I converting enzyme (peptidyl-dipeptidase more1, 5 84.23(n)1
    83.46(a)1
      11 (68.84 cM)5
    114211  NM_207624.51  NP_997507.11 
     1059679455 
    chicken
    (Gallus gallus)
    Aves ACE1 angiotensin I converting enzyme (peptidyl-dipeptidase more 70.99(n)
    68.28(a)
      419953  NM_001167732.1  NP_001161204.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    64(a)
    1 → many
    6(61163031-61223313)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.57762 Transcribed sequence with weak similarity to protein more 77.22(n)    BQ526772.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ace1 angiotensin I converting enzyme (peptidyl-dipeptidase more 67.07(n)
    65.7(a)
      565980  XM_689244.5  XP_694336.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ance3 peptidyl-dipeptidase A 44(a)
    (best of 6)
      2 34E2   --
    worm
    (Caenorhabditis elegans)
    Secernentea acn-16
    Inactive angiotensin-converting enzyme-related pro...
    18(a)
    1 → many
    X(5092281-5097073)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACE gene
    TMEM272  ENSG000002648132  ACE22  
    1 SIMAP similar gene for ACE using alignment to 21 protein entries:     ACE_HUMAN (see all proteins):
    ACE2

    ACE for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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)
    About This Section

    613/873 SNPs in ACE are shown (see all 873)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1423282371,2
    C,Funtested162576747(+) CGCCTC/G/TGGCTT 2 S L mis11NA 4530
    VAR_0234344
    ----see VAR_0234342 P L mis40--------
    VAR_0354344
    ----see VAR_0354342 G R mis40--------
    VAR_0141914
    ----see VAR_0141912 R Q mis40--------
    rs43191,2
    C--61562490(+) CAGGG-/GCAGGG 3 -- int15Minor allele frequency- G:0.43NS CSA 682
    rs19738681,2
    C--61565725(+) agaaaG/Aaaaaa 3 -- int1 trp31Minor allele frequency- A:0.50WA 2
    rs17997631,2
    C--61575454(+) CATGACT/-CTCTG 3 -- ut311Minor allele frequency- -:0.00CSA 2
    rs1160037391,2
    C,F--62570158(+) CAATGC/G/TCCGCC 1 -- us2k11WA 118
    rs1831977121,2
    --62570206(+) GAGGCA/GAGGCC 1 -- us2k10--------
    rs1886071521,2
    --62570300(+) TTCAGA/GGGCTG 1 -- us2k10--------
    rs1995778711,2
    --62570351(+) TCCAC-/AGAAAGA 1 -- us2k10--------
    rs1922186741,2
    --62570391(+) TTTGCA/GCACAG 1 -- us2k10--------
    rs1844166471,2
    C--62570544(+) ACCAAA/C/TGTAGC 1 -- us2k10--------
    rs1472368081,2
    --62570694(+) CCTCTC/TCCGGC 1 -- us2k10--------
    rs780419351,2
    F--62570748(+) TAGTGC/ATAGGG 1 -- us2k11Minor allele frequency- A:0.50NA 4
    rs1407386691,2
    --62570780(+) CCACCA/GCCCCC 1 -- us2k10--------
    rs1447014611,2
    C--62570875(+) CACACA/TCTCCA 1 -- us2k10--------
    rs739921331,2
    C,F--62570927(+) ACCATC/GCCCCA 1 -- us2k12Minor allele frequency- G:0.04WA 120
    rs1876047471,2
    --62570979(+) CCTAAC/TGGGTT 1 -- us2k10--------
    rs794778311,2
    F--62571244(+) CAGGGG/AAGTGT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs42911,2
    C,F,H--62571876(+) TCTTCA/TAAAGA 1 -- us2k18Minor allele frequency- T:0.37EA NA NS WA 1366
    rs133060861,2
    C,F,H--62571913(+) TGCGGG/AAGCCC 1 -- us2k15Minor allele frequency- A:0.04EA NS 604
    rs1925381261,2
    --62571935(+) ATCCCA/GCCACC 1 -- us2k10--------
    rs42921,2
    C,F,H--62572023(+) GGACTT/CTGGAG 1 -- us2k19Minor allele frequency- C:0.35EA NA NS CSA 1309
    rs11109911,2
    C--62572182(+) ctgccG/Cctgcc 2 /P syn1 ese31Minor allele frequency- C:0.00NS 534
    rs1479127151,2
    C--62572314(+) GAACAA/GGTGCT 2 Q syn10--------
    rs1844572761,2
    C--62572368(+) ACCGCA/GGAGAA 2 A syn10--------
    rs1893342341,2
    --62572488(+) CGAACC/GCCACC 1 -- int10--------
    rs1812340761,2
    C--62572514(+) CGCCCC/GGACAG 1 -- int10--------
    rs72112071,2
    C,F,A--62572594(+) TGAGGG/CTGGCT 1 -- int12Minor allele frequency- C:0.31WA 120
    rs1490833401,2
    --62572669(+) GGGCAA/GCTGCC 1 -- int10--------
    rs98965511,2
    C,F--62572863(+) CCCGGG/TCTCTG 1 -- int14Minor allele frequency- T:0.02NA 184
    rs2017281391,2
    C--62572965(+) TGGTGC/TCCAAT 1 -- int11Minor allele frequency- T:0.00EU 437
    rs37296591,2
    C,F--62573134(+) AAGCGG/TCAGCA 2 R syn1 ese31Minor allele frequency- T:0.00NA 2772
    rs1140005591,2
    C,F--62573148(+) GGGCTG/AAGGGC 1 -- int11Minor allele frequency- A:0.02WA 118
    rs37296601,2
    C--62573153(+) GAGGGC/TTGAGG 1 -- int10--------
    rs127094171,2
    C,F--62573272(+) GCCCAG/AGTAAG 1 -- int12Minor allele frequency- A:0.02--184
    rs127094181,2
    C,F--62573309(+) TTTTCT/CTGGAG 1 -- int13Minor allele frequency- C:0.04WA 302
    rs42931,2
    C,F,A,H--62573347(+) AGGAAG/ACATTC 1 -- int132Minor allele frequency- A:0.44NS EA NA WA 3854
    rs127094191,2
    C,F--62573365(+) GGAAGC/TCAAAT 1 -- int16Minor allele frequency- T:0.01NS NA 722
    rs1455767481,2
    --62573372(+) AAATTA/CAAATA 1 -- int10--------
    rs127207481,2
    C,F--62573409(+) CTTCTT/CTGGAA 1 -- int12Minor allele frequency- C:0.02WA 208
    rs127207491,2
    C,F--62573441(+) GGTGGC/TTCAAG 1 -- int11Minor allele frequency- T:0.02--88
    rs1848848731,2
    --62573449(+) AAGCCA/TGTAAT 1 -- int10--------
    rs1887538621,2
    --62573459(+) TCCCAA/GCACTT 1 -- int10--------
    rs3677275971,2
    C--62573544(+) TCTAC-/AAAAAA 1 -- int10--------
    rs42941,2
    C,F--62573705(+) CCCCCA/CAAAAA 1 -- int1 trp35Minor allele frequency- C:0.12NA WA 298
    rs1814872221,2
    --62573758(+) AGCCAC/GAGAAT 1 -- int10--------
    rs1408278741,2
    --62573778(+) CTGCCC/TTCACT 1 -- int10--------
    rs7602811,2
    H--62573814(+) GACCCT/AGACCC 1 -- int14Minor allele frequency- A:0.00NS EA 414
    rs1861180491,2
    --62573819(+) TGACCC/TTGACT 1 -- int10--------
    rs1135712371,2
    F--62573847(+) CCACTG/CCACAG 1 -- int12Minor allele frequency- C:0.50CSA 4
    rs1908370901,2
    --62573860(+) TGCCTC/TCACTG 1 -- int10--------
    rs42951,2
    C,F,A,H--62573979(-) TGCTAC/GAAGGA 1 -- int1 trp330Minor allele frequency- G:0.38NS EA NA WA CSA 5061
    rs1823408371,2
    C--62574023(+) ACTGGA/CGCATT 1 -- int10--------
    rs2017165091,2
    --62574070(+) GCAACA/GTGAGC 2 M V mis10--------
    rs752145601,2
    C--62574085(+) TCTACC/TCCACC 2 P S mis10--------
    rs2012774971,2
    --62574089(+) CTCCAC/TCGCCA 2 T I mis10--------
    rs133060871,2,4
    C--62574091(+) CCACCG/ACCAAG 2 /T /A mis1 ese34Minor allele frequency- A:0.00EA NA 4634
    rs1433205371,2
    C,F--62574096(+) GCCAAG/CGTCTG 2 /N /K mis11Minor allele frequency- C:0.00NA 4532
    rs1483516801,2
    C,F--62574105(+) TGCCTC/TCCCAA 2 L syn11Minor allele frequency- T:0.00NA 4532
    rs2012853211,2
    --62574108(+) CTCCCC/TAACAA 2 P syn10--------
    rs1171347391,2
    C--62574110(+) CCCCAA/GCAAGA 2 N S mis12Minor allele frequency- G:0.00EA NA 4650
    rs1390769511,2
    C,F--62574134(+) GTCCCT/CGGACC 2 /P /L mis11Minor allele frequency- C:0.00NA 4502
    rs42961,2
    C,F,A,H--62574208(+) ACTCCG/AGACCA 1 -- int116Minor allele frequency- A:0.00EA NA WA CSA 998
    rs42971,2
    C,F,H--62574235(-) TGTCTC/GCACAG 1 -- int112Minor allele frequency- G:0.05NS EA NA WA 1468
    rs1494025091,2
    --62574270(+) CTCCAA/GCTGGG 1 -- int10--------
    rs1860579201,2
    --62574463(+) GGGACA/CCCTCG 1 -- int10--------
    rs1909221561,2
    C--62574488(+) ACCCCG/TCTCCA 1 -- int10--------
    rs1159567221,2
    C,F--62574697(+) GGCACC/TGTGAT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs37300211,2
    C,H--62574796(+) CCTGCC/TTGCCT 1 -- int14Minor allele frequency- T:0.00NS EA 406
    rs37300221,2
    C,F--62574836(+) TCCTCG/TCGAAG 2 S syn1 ese31Minor allele frequency- T:0.00NA 4552
    rs127207541,2,4
    C,F--62574846(+) GCTACG/ACCATG 2 /T /A mis1 ese32Minor allele frequency- A:0.00NA 4642
    rs42981,2
    C,F,A--62574881(+) CACAAC/TGCTGC 2 N syn119Minor allele frequency- T:0.15MN EA NA NS WA CSA EU 7607
    rs42991,2
    C,F,H--62574899(+) CCGCTG/AAAACC 2 /L syn1 ese36Minor allele frequency- A:0.00MN NS EA NA 5144
    rs1484602871,2
    C,F--62574904(+) GAAACC/TGCTGT 2 P L mis11Minor allele frequency- T:0.00NA 4542
    rs1481449061,2
    C--62574931(+) CCTCAG/TCAATG 2 S I mis10--------
    rs43001,2
    C,F--62574967(+) GGCCTC/TTCCCT 1 -- int17Minor allele frequency- T:0.04NA WA EU 1103
    rs1831904901,2
    C--62574986(+) ACCACA/GCCAGG 1 -- int10--------
    rs1878743951,2
    --62575034(+) GAGTCA/TGGCAG 1 -- int10--------
    rs1113498051,2
    F--62575099(+) GGACCG/AGCCTG 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs1440660971,2
    --62575112(+) CCCAGC/TGTGCC 1 -- int10--------
    rs2003485411,2
    C--62575336(+) GGTCCC/GAGCCT 1 -- int10--------
    rs43011,2
    C,H--62575353(+) TGAGCC/TACATA 1 -- int14Minor allele frequency- T:0.00NS EA 418
    rs2013568771,2
    C--62575366(+) TCACCC/TCCACG 1 -- int10--------
    rs127207341,2
    C--62575370(+) CCCCAC/TGCCCC 1 -- int12Minor allele frequency- T:0.03CSA 92
    rs1415433251,2
    C--62575405(+) ACTGGC/TGCTCC 2 R C mis11Minor allele frequency- T:0.00NA 4544
    rs772945801,2
    C--62575438(+) AGGACA/GATCTG 2 N D mis10--------
    rs37300251,2,4
    C,F,H--62575454(+) CCTCTA/GCCAAC 2 Y C mis1 ese312Minor allele frequency- G:0.01NS EA NA EU 7085
    rs2009074661,2
    --62575481(+) CCTGAA/GCCTCC 2 N S mis10--------
    rs1500118771,2
    C--62575502(+) CCGCCA/GCGCAC 2 H R mis10--------
    rs43021,2,4
    C,F--62575503(+) CGCCGC/TGCACT 2 R syn1 ese35Minor allele frequency- T:0.01MN NA CSA 4742
    rs43031,2,4
    C,F,H--62575504(+) GCCGCG/TCACTG 2 A S mis1 ese318Minor allele frequency- T:0.04MN NS EA NA CSA WA EU 7896
    rs1388733111,2
    F--62575516(+) ATCGCC/TGATAC 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs1494129971,2
    C,F--62575522(+) GATACG/AGAGAC 2 /R /G mis12Minor allele frequency- A:0.00NA EU 5875
    rs1488824661,2
    C--62575542(+) AACCTC/TAGGGG 2 L syn10--------
    rs127094221,2
    C,F--62575582(+) ACCTGG/ACCTCG 1 -- int12Minor allele frequency- A:0.03--176
    rs1995790451,2
    --62575592(+) GCCTCC/TACATG 1 -- int10--------
    rs1827431751,2
    C--62575601(+) TGAGTC/TCCACG 1 -- int10--------
    rs43041,2
    C,F--62575620(+) GGTCCC/TGAGGT 1 -- int16Minor allele frequency- T:0.11NA WA 308
    rs1873928681,2
    --62575701(+) TACTGC/TTTGCT 1 -- int10--------
    rs43051,2
    C,F,A,H--62575910(+) CTGGCA/GCAGCC 1 -- int125Minor allele frequency- G:0.48EA NS NA CSA WA 5420
    rs127207411,2
    C,F--62575962(+) GCCCTC/AGGAGG 1 -- int12Minor allele frequency- A:0.03WA 202
    rs127094241,2
    C,F--62576001(+) TCTGGC/TCCTAA 1 -- int13Minor allele frequency- T:0.04WA 286
    rs1924544661,2
    --62576069(+) TCAGCA/GATGCA 1 -- int10--------
    rs43061,2
    C,F--62576079(+) ATGAAG/AAAGCA 1 -- int12Minor allele frequency- A:0.04CSA WA 120
    rs1995918511,2
    C--62576148(+) GGCCCA/GGAGCT 2 Q R mis10--------
    rs617409821,2
    C,F--62576174(+) ACATGG/ATGGTG 2 /M /V mis12Minor allele frequency- A:0.00NS NA 4614
    rs1507549951,2
    F--62576212(+) GTCACC/TAGTAC 2 T syn11Minor allele frequency- T:0.00NA 4550
    rs1441378491,2
    C--62576213(+) TCACCA/GGTACT 2 S G mis10--------
    rs2015885181,2
    --62576220(+) TACTAC/TGCTGC 2 T M mis10--------
    rs2006236131,2
    --62576244(+) TGGGCC/TCAAGC 1 -- int10--------
    rs2012740311,2
    C--62576246(+) GGCTCA/GAGCCT 1 -- int10--------
    rs3724375641,2
    C--62576267(+) GGGTCA/GGGGGT 1 -- int10--------
    rs1999083071,2
    C--62576278(+) GGGGCA/GCAAAA 1 -- int10--------
    rs1465273241,2
    --62576413(+) GCTCCA/TCAGTG 1 -- int10--------
    rs1877759701,2
    --62576417(+) CACAGC/TGGCAG 1 -- int10--------
    rs2019776751,2
    --62576598(+) ACACCA/CCTCCT 1 -- int10--------
    rs341264581,2
    C,F--62576617(-) CGTGGC/AGTTCC 2 /A /S mis12Minor allele frequency- A:0.00NA EU 1206
    rs351412941,2
    C,F--62576632(-) CACCCG/AGAACA 2 /R /W mis13Minor allele frequency- A:0.01NA WA 4680
    rs1181458801,2
    C,F--62576637(+) CGGGTG/TGCAGA 2 V syn13Minor allele frequency- T:0.01NA EU 5927
    rs1922054171,2
    C--62576646(+) GAGGAA/GTTCTT 2 E syn10--------
    rs37300261,2
    C--62576682(+) CCTCCC/TGAGTT 2 P syn1 ese31Minor allele frequency- T:0.01EA 96
    rs2014562351,2
    C--62576683(+) CTCCCA/GAGTTC 2 K E mis10--------
    rs2002259581,2
    --62576690(+) GTTCTA/GGGAAG 2 * W stg10--------
    rs346804311,2
    C,F--62576700(-) AGCATC/GGACCC 2 S syn16Minor allele frequency- G:0.01NA NS EU 6467
    rs22298391,2,4
    C,F--62576714(+) GAAGCC/TGGCCG 2 P L mis17Minor allele frequency- T:0.00MN NA NS EU 6509
    rs1481939191,2
    C--62576719(+) CGGCCA/GACGGG 2 N D mis10--------
    rs1423503011,2
    C,F--62576722(+) CCGACG/AGGCGG 2 /R /G mis12Minor allele frequency- A:0.01NA EU 5864
    rs1996909361,2
    --62576740(+) TGTGCC/TACGCC 2 H Y mis10--------
    rs1144885741,2
    C--62576760(+) GACTTC/TTACAA 2 F syn12Minor allele frequency- T:0.00WA NA 4612
    rs2007132611,2
    --62576817(+) TCCCCA/GGTTCT 1 -- int10--------
    rs15549611,2
    C,F--62576925(+) CAGGGC/TTAGGG 1 -- int14Minor allele frequency- T:0.00EA NA NS 590
    rs559174771,2
    C--62577067(+) AGGCAC/TGGTGG 1 -- int10--------
    rs1885050941,2
    --62577136(+) GAGTTC/GGAGAC 1 -- int10--------
    rs43071,2
    C,F--62577168(+) ACCCCG/ATCTCT 1 -- int13Minor allele frequency- A:0.02NS NA 566
    rs1917833881,2
    --62577215(+) GCGGGC/TGCCTG 1 -- int10--------
    rs1440313721,2
    --62577238(+) CTCAGG/TAGGCT 1 -- int10--------
    rs1469020691,2
    C--62577280(+) GGAGGC/TTGCAG 1 -- int10--------
    rs43081,2
    C,F,H--62577306(+) CCACTG/ACAGGC 1 -- int112Minor allele frequency- A:0.35NA NS WA CSA EA 931
    rs1845324281,2
    --62577417(+) TCATTC/TCTGTC 1 -- int10--------
    rs1141715931,2
    F--62577432(+) AGGTGC/ACAATC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1998955531,2
    --62577462(+) GCCCTC/GTTCTG 1 -- int10--------
    rs728450221,2
    C--62577474(+) CCATCC/TGTCAC 1 -- int10--------
    rs1148610861,2
    C,F--62577500(+) CTCTAC/TGCCCC 1 -- int11Minor allele frequency- T:0.06WA 118
    rs1393993571,2
    C--62577501(+) TCTACA/GCCCCA 1 -- int10--------
    rs1892433201,2
    C--62577508(+) CCCAGG/TATCAA 2 R S mis10--------
    rs133060851,2,4
    C,H--62577525(+) CACACA/C/GGGTCA 3 Q P R mis1 ese36EA NS NA 504
    rs1504664111,2
    C,F--62577531(+) GGTCAC/TGATGG 2 T M mis12Minor allele frequency- T:0.00NA EU 5835
    rs43091,2
    C,F,O,A,H--62577604(+) CTGCCC/TGTCTC 2 P syn129Minor allele frequency- T:0.36MN EA NA NS WA EU 9658
    rs2011179831,2
    C--62577605(+) TGCCCA/GTCTCC 2 I V mis10--------
    rs1451722771,2
    C,F--62577618(+) GCGTCG/AGGGGG 2 /Q /R mis11Minor allele frequency- A:0.00NA 4552
    rs1385219211,2
    C,F--62577631(+) AACCCC/TGGCTT 2 P syn11Minor allele frequency- T:0.00NA 4552
    rs1492529111,2
    C--62577632(+) ACCCCG/AGCTTC 2 /S /G mis11Minor allele frequency- A:0.00NA 4552
    rs1444948421,2
    C--62577648(+) GGCCAT/CTGGGG 2 /T /I mis11Minor allele frequency- C:0.00NA 4552
    rs1433210441,2
    C,F--62577664(+) CTGGCG/ACTCTC 2 /A syn12Minor allele frequency- A:0.00NA EU 5867
    rs1446571131,2
    C--62577700(+) AAAATC/TGGCCT 2 I syn10--------
    rs1996979571,2
    --62577707(+) GCCTGC/GTGGAC 2 L V mis10--------
    rs358656601,2
    C,F--62577714(-) TGACAC/TGGTCC 2 H R mis11Minor allele frequency- T:0.01NA 4548
    rs342413021,2
    C,F--62577730(-) ATACCC/GGTGTC 2 T syn11Minor allele frequency- G:0.01NA 4524
    rs1873283811,2
    --62577838(+) CTCCCA/GGCCCC 1 -- int10--------
    rs1907268551,2
    --62577840(+) CCCGGC/TCCCAG 1 -- int10--------
    rs1506483361,2
    --62577893(+) ACTGCA/GCCCAG 3 -- us2k1 int10--------
    rs1807434081,2
    C--62577997(+) GCCCCA/GCCAGC 3 -- us2k1 int10--------
    rs2020440781,2
    C--62578026(+) CTCTTC/TTCCCT 3 -- us2k1 int11Minor allele frequency- T:0.00EU 1323
    rs1392876661,2
    C--62578054(+) CTTTCA/GTCTCA 3 -- us2k1 int11Minor allele frequency- G:0.00EU 1323
    rs1851151051,2
    C--62578076(+) AAAGTA/GACATC 4 N D us2k1 mis10--------
    rs2015405531,2
    C--62578172(+) GTGGGC/TGTACC 4 R C us2k1 mis11Minor allele frequency- T:0.00EU 1321
    rs2021787371,2
    C--62578181(+) CCCCCC/GCTTCC 4 P A us2k1 mis10--------
    rs287308391,2
    C,F--62578182(+) CCCCCC/GTTCCC 4 P R us2k1 mis1 trp31Minor allele frequency- G:0.00NA 4552
    rs1497841221,2
    C,F--62578187(+) CTTCCC/TGCTAC 4 R C us2k1 mis12Minor allele frequency- T:0.00NA EU 5875
    rs797035661,2
    C--62578224(+) AGAGGA/GGGGAT 3 -- us2k1 int10--------
    rs760323871,2
    C--62578225(+) GAGGAA/GGGATA 3 -- us2k1 int10--------
    rs802779081,2
    C--62578226(+) AGGAGA/GGATAG 3 -- us2k1 int10--------
    rs1995754051,2
    --62578228(+) GAGGGA/GTAGAA 3 -- us2k1 int10--------
    rs127094251,2
    C,F--62578342(+) CCCACC/TGCCTT 3 -- us2k1 int15Minor allele frequency- T:0.05NA WA 310
    rs1899241391,2
    --62578343(+) CCACCA/GCCTTC 3 -- us2k1 int10--------
    rs1116251591,2
    C,F--62578417(+) GTTGCC/TGGGTG 3 -- us2k1 int11Minor allele frequency- T:0.03NA 120
    rs43111,2
    C,F,H--62578444(+) AAAAGC/TTAAAT 3 -- us2k1 int137Minor allele frequency- T:0.35EA NA NS WA CSA 5612
    rs1489439541,2
    C,F--62578527(+) GTCCTC/GCTGTT 4 P A us2k1 mis12Minor allele frequency- G:0.00NA EU 5873
    rs2017627201,2
    --62578554(+) ACTTTA/GATGCT 4 N D us2k1 mis10--------
    rs1442946341,2
    C--62578557(+) TTGATG/TCTGGA 4 A S us2k1 mis11Minor allele frequency- T:0.00NA 4552
    rs127207461,2,4
    C,H--62578585(+) AAATGT/CGACAC 4 /A /V us2k1 mis19Minor allele frequency- C:0.00NS EA NA 5066
    rs127207471,2
    C,F--62578619(+) CACCCC/TACCCA 3 -- us2k1 int13Minor allele frequency- T:0.06CSA WA 214
    rs2006430441,2
    --62578632(+) CCAGT-/AACTGT 3 -- us2k1 int10--------
    rs43121,2
    C,F--62578667(+) CTGTGA/TTCCTA 3 -- us2k1 int112Minor allele frequency- T:0.08NS NA CSA WA EA 2006
    rs1441173631,2
    C--62578681(+) GCCTCA/CTCCCC 3 -- us2k1 int10--------
    rs43131,2
    C,F--62578698(+) TGTCCC/TCATGC 3 -- us2k1 int111Minor allele frequency- T:0.10MN NS NA WA CSA 1006
    rs1826754741,2
    --62578705(+) ATGCTC/TCTCCA 3 -- us2k1 int10--------
    rs2008687321,2
    C--62578853(+) TGGCCC/TCCCAT 3 -- us2k1 int10--------
    rs2017945361,2
    C--62578854(+) GGCCCC/ACCATG 3 -- us2k1 int11Minor allele frequency- A:0.00EU 1315
    rs1451525271,2
    C,F--62578959(+) TGAGGG/ACCCAC 4 /D /G us2k1 mis11Minor allele frequency- A:0.00NA 4548
    rs43141,2,4
    C,F,H--62578985(+) TCTACC/TGGTCC 4 R W us2k1 mis1 ese39Minor allele frequency- T:0.00MN NS EA NA 6220
    rs1465152551,2
    C--62579056(+) AGGAGC/TGGCTG 3 -- us2k1 int10--------
    rs127094261,2,4
    C,F,H--62579437(+) CTTAGA/GTGCCC 4 D G us2k1 mis123Minor allele frequency- G:0.02NS EA NA WA 6666
    rs1112695271,2
    C,F--62579514(+) AGAACG/AGCGAG 4 /S /G us2k1 mis12Minor allele frequency- A:0.00CSA NA 4192
    rs1388125661,2
    C,F--62579534(+) TGGCCC/TGAGTA 4 P us2k1 syn12Minor allele frequency- T:0.00NA EU 4321
    rs2009637391,2
    --62579542(+) GTACCA/GGTGGC 4 Q R us2k1 mis10--------
    rs2002555541,2
    --62579573(+) TACCCA/GGAGGG 4 P us2k1 syn10--------
    rs728450241,2
    C--62579577(+) CGGAGG/AGCATA 4 /S /G us2k1 mis11Minor allele frequency- A:0.00EU 731
    rs1128107081,2
    C,F--62579744(+) GAGTGG/CGGACA 3 -- us2k1 int11Minor allele frequency- C:0.50CSA 2
    rs1497473541,2
    --62579764(+) TTCCCC/TCAGCA 3 -- us2k1 int10--------
    rs1916974441,2
    --62579851(+) CACTGC/TGGGCT 3 -- us2k1 int10--------
    rs127207231,2
    C,F--62579852(+) ACTGCG/AGGCTC 3 -- us2k1 int12Minor allele frequency- A:0.07WA 208
    rs713758951,2
    C,F--62579859(+) GCTCCG/ACTCTT 3 -- ut51 int12Minor allele frequency- A:0.50NA 4
    rs43161,2
    C,F,A,H--62579990(+) GTCCCT/CAGCCA 5 /P syn1 int121Minor allele frequency- C:0.49MN EA NS NA WA CSA EU 3101
    rs43171,2
    C,F,H--62580003(+) AGGCAT/CCCCAA 5 /P /S mis1 int1 ese316Minor allele frequency- C:0.08MN NS EA NA CSA WA EU 2271
    rs43181,2
    C,F,H--62580054(+) CCAGCA/GGCCAG 5 S G mis1 int1 ese315Minor allele frequency- G:0.11MN NS EA CSA WA 1770
    rs1837565671,2
    --62580160(+) GGGGCC/TGGGTA 3 -- int10--------
    rs43201,2
    C,F,A,H--62580234(+) GGAGAG/AGGGAG 3 -- int1 trp318Minor allele frequency- A:0.46EA NA NS WA CSA EU 2865
    rs1474299601,2
    C,F--62580335(+) GACATC/GCCAGG 6 S C mis12Minor allele frequency- G:0.00NA EU 5873
    rs1484919671,2
    C--62580405(+) ACCAGC/AAAGAT 6 /R /S mis11Minor allele frequency- A:0.00NA 4548
    rs43211,2
    C,F,A,H--62580455(+) GTGCAC/G/TACACA 3 -- int113NS WA NA CSA EA EU 2213
    rs2002650921,2
    C--62580462(+) CACACA/GGAGAT 3 -- int11Minor allele frequency- G:0.00EU 1307
    rs1454467931,2
    --62580479(+) CCGCTC/TACCAC 3 -- int10--------
    rs1886308651,2
    --62580500(+) TGCCAC/GCACAT 3 -- int10--------
    rs43221,2
    C,F--62580560(+) GCTCAC/TGCCTG 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs43231,2
    C,F--62580635(+) TAACAC/TGGTGA 3 -- int17Minor allele frequency- T:0.39NA NS CSA 227
    rs1425349351,2
    --62580636(+) AACACA/GGTGAA 3 -- int10--------
    rs1932611941,2
    C--62580668(+) CAAAAA/CTTAGC 3 -- int10--------
    rs43241,2
    C,F,A,H--62580852(+) TTTTGA/GTGAAC 3 -- int122Minor allele frequency- G:0.49NS EA NA WA 2460
    rs43251,2
    C,F,H--62580881(+) CAATTC/ATTCTT 3 -- int1 trp320Minor allele frequency- A:0.37NS EA NA 3304
    rs43261,2
    C,F,A,H--62580923(+) TGGGAG/AGATCA 3 -- int110Minor allele frequency- A:0.49NA NS WA EA 508
    rs43271,2
    C,F,H--62580954(+) ACTAGC/GCTGGG 3 -- int110Minor allele frequency- G:0.49NA NS WA EA 394
    rs127094281,2
    C,F--62581059(+) AAGTCG/ATTTTT 3 -- int13Minor allele frequency- A:0.02WA 306
    rs43281,2
    C,F--62581094(+) TCTCCT/CCTACA 3 -- int17Minor allele frequency- C:0.10NA WA 314
    rs1466649911,2
    C--62581097(+) CCTCTA/GCAAAA 3 -- int10--------
    rs1392539661,2
    --62581105(+) AAAGGA/GGCTAC 3 -- int10--------
    rs43291,2
    C,F,A,H--62581139(+) TGCCTG/ATTTGG 3 -- int130Minor allele frequency- A:0.49EA NS NA WA 4740
    rs1823459731,2
    --62581193(+) CTTGGC/TACTTT 3 -- int10--------
    rs1432799301,2
    --62581228(+) AACAGC/TCTTGC 3 -- int10--------
    rs43301,2
    C,F,A--62581342(+) CTTTAA/C/GGACAC 3 -- int115NS NA WA CSA EA 499
    rs127207301,2
    C,F--62581396(+) TTGACC/TGCAGG 3 -- int12Minor allele frequency- T:0.02CSA 84
    rs1381317051,2
    C--62581443(+) TCAGCA/GTCCAG 3 -- int10--------
    rs1869624531,2
    C--62581506(+) ACCACC/TACCTC 3 -- int10--------
    rs1917589981,2
    --62581512(+) ACCTCA/CAGCCC 3 -- int10--------
    rs1843057121,2
    --62581529(+) CCCACC/TTGGGG 3 -- int10--------
    rs1508114761,2
    C,F--62581622(+) ATAGCC/GAACCA 6 A syn12Minor allele frequency- G:0.00NA EU 5851
    rs2006491581,2
    C--62581695(+) TCAAGC/TGGATC 6 R W mis11Minor allele frequency- T:0.00EU 1323
    rs1889932221,2
    C--62581706(+) ATAAAC/GAAGGT 6 N K mis10--------
    rs2015270821,2
    --62581726(+) AGAACA/GGGCAG 6 Q R mis10--------
    rs355539881,2
    C,F--62581727(-) GCTGCC/ACGTTC 6 /R syn13Minor allele frequency- A:0.01NA WA 4700
    rs43311,2
    C,F,A,H--62581733(+) GCAGCA/GCTGCC 6 A syn134Minor allele frequency- G:0.46MN EA NA NS WA CSA EU 9800
    rs1997854791,2
    C--62581740(+) TGCCTG/TCCCAG 6 A S mis11Minor allele frequency- T:0.00EU 1323
    rs127207361,2
    C,F--62581878(+) TGCCAT/CGCGAT 3 -- int11Minor allele frequency- C:0.01--86
    rs1495713411,2
    C--62581881(+) CATGCA/GATGTG 3 -- int10--------
    rs1853516121,2
    --62581905(+) CTGAGA/GGGGCA 3 -- int10--------
    rs1902302021,2
    --62581912(+) GGCAGC/TGCTCC 3 -- int10--------
    rs43321,2
    C,F,A--62581962(+) GGGGGT/CAGTGC 3 -- int116Minor allele frequency- C:0.49EA NA NS WA CSA 1625
    rs2005038801,2
    --62582074(+) GGCCAC/TTGTGT 6 T I mis10--------
    rs1997152461,2
    --62582087(+) CACCCG/TAATGG 6 P syn10--------
    rs1489953151,2
    C,F--62582109(+) AGCTCG/AAGCCA 6 /K /E mis12Minor allele frequency- A:0.00NA EU 5789
    rs127094291,2
    C--62582141(+) TGAGTG/CAGAGG 3 -- int15Minor allele frequency- C:0.03NS NA 218
    rs43331,2
    C,F,H--62582203(+) TTGGGC/TTCCCC 3 -- int127Minor allele frequency- T:0.45EA NS NA WA CSA 4921
    rs559071211,2
    C--62582214(+) TCGCTC/GTTGGG 3 -- int10--------
    rs747244621,2
    F--62582373(+) GTCCTC/TTCTGC 3 -- int10--------
    rs127207321,2
    C,F--62582379(+) TCTGCA/GTGCCG 3 -- int12Minor allele frequency- G:0.10WA 212
    rs127207311,2
    C,F--62582386(+) GCCGCC/GCCTCA 3 -- int18Minor allele frequency- G:0.09WA CSA EA 1265
    rs755358431,2
    C,F--62582469(+) CCCCCG/AGCCTC 3 -- int11Minor allele frequency- A:0.02EA 120
    rs1401005481,2
    C--62582579(+) AAAGCA/GCCAGA 3 -- int10--------
    rs4334