This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes 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 angiotensin converting enzyme (ACE) also inactivat... See more...

Aliases for ACE Gene

Aliases for ACE Gene

  • Angiotensin I Converting Enzyme 2 3 5
  • Angiotensin I Converting Enzyme (Peptidyl-Dipeptidase A) 1 2 3
  • Angiotensin-Converting Enzyme 3 4
  • Dipeptidyl Carboxypeptidase I 3 4
  • CD143 Antigen 3 4
  • Kininase II 3 4
  • CD143 2 3
  • ACE1 2 3
  • DCP1 3 4
  • DCP 3 4
  • Dipeptidyl Carboxypeptidase 1 3
  • Peptidyl-Dipeptidase A 2
  • Carboxycathepsin 3
  • Peptidase P 3
  • EC 4
  • EC 3.2.1.- 4
  • ACE 5

External Ids for ACE Gene

Previous HGNC Symbols for ACE Gene

  • DCP1

Previous GeneCards Identifiers for ACE Gene

  • GC17P061205
  • GC17P063980
  • GC17P061895
  • GC17P062027
  • GC17P058908
  • GC17P061554
  • GC17P056922

Summaries for ACE Gene

Entrez Gene Summary for ACE Gene

  • This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes 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 angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]

GeneCards Summary for ACE Gene

ACE (Angiotensin I Converting Enzyme) is a Protein Coding gene. Diseases associated with ACE include Hemorrhage, Intracerebral and Microvascular Complications Of Diabetes 3. Among its related pathways are A-beta Pathways: Uptake and Degradation and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include actin binding and drug binding. An important paralog of this gene is ENSG00000264813.

UniProtKB/Swiss-Prot Summary for ACE Gene

  • 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.

Tocris 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, proinflammatory peptide, bradykinin.

Gene Wiki entry for ACE Gene

PharmGKB "VIP" Summary for ACE Gene

No data available for CIViC Summary , Rfam classification and piRNA Summary for ACE Gene

Genomics for ACE Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACE Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J063473 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 250.7 -0.3 -312 6.1 EZH2 BCLAF1 ZNF654 MYC NCOR1 IKZF1 ZNF600 JUND ZNF223 ZIC2 ACE KCNH6 FTSJ3 MAP3K3 PPIAP55 CYB561
GH17J063484 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 250.4 +7.8 7840 0.2 RAD21 CTCF TFAP4 CREB1 RFX5 ZNF687 ELF1 GTF2F1 ZNF444 ENSG00000264813 ACE KCNH6 CYB561 DCAF7 TACO1 HSALNG0118003
GH17J063486 Promoter 0.5 EPDnew 250.4 +9.6 9550 0.1 ZNF600 EGR2 ENSG00000264813 ACE CYB561 DCAF7 TACO1 HSALNG0118003 KCNH6
GH17J063549 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.2 +73.9 73911 3.9 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 IKZF1 MYC SSRP1 ZNF580 ZNF592 DCAF7 CEP95 FTSJ3 POLG2 DDX42 SMARCD2 DDX5 RNU6-288P TACO1 CYB561
GH17J063431 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -42.7 -42719 6.2 IKZF1 MYC NCOR1 ZNF600 JUND ZNF592 CEBPA ZNF223 ZSCAN16 NFIC CYB561 DDX42 FTSJ3 PPIAP55 ACE SMARCD2 TACO1 ENSG00000265282 piR-51111 lnc-STRADA-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACE on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACE

Top Transcription factor binding sites by QIAGEN in the ACE gene promoter:
  • GR-alpha
  • Sp1

Genomic Locations for ACE Gene

Latest Assembly
21,320 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
21,313 bases
Plus strand

(GRCh37/hg19 by Ensembl)
44,784 bases
Plus strand

Genomic View for ACE Gene

Genes around ACE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACE Gene

Proteins for ACE Gene

  • Protein details for ACE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Angiotensin-converting enzyme
    Protein Accession:
    Secondary Accessions:
    • B0LPF0
    • B4DXI3
    • E7EU16
    • P22966
    • Q53YX9
    • Q59GY8
    • Q7M4L4

    Protein attributes for ACE Gene

    1306 amino acids
    Molecular mass:
    149715 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Name=chloride; Xref=ChEBI:CHEBI:17996;
    Quaternary structure:
    No Data Available
    • Sequence=BAD92208.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    • Inhibitors of ACE are commonly used to treat hypertension and some types of renal and cardiac dysfunction.
    • The glycosidase activity probably uses different active site residues than the metalloprotease activity.
    • [Isoform Somatic-2]: Incomplete sequence.

    Three dimensional structures from OCA and Proteopedia for ACE Gene

    Alternative splice isoforms for ACE Gene

neXtProt entry for ACE Gene

Post-translational modifications for ACE Gene

  • Phosphorylated by CK2 on Ser-1299; which allows membrane retention.
  • Glycosylation at Asn38, Asn54, Asn74, Asn677, Asn111, Asn695, Asn714, Asn146, Asn160, Asn760, Asn318, Asn942, Asn445, Asn509, Asn523, Asn1191, and Asn1225
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

No data available for DME Specific Peptides for ACE Gene

Domains & Families for ACE Gene

Gene Families for ACE Gene

Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ACE Gene

  • Peptidyl-dipeptidase A (M2) metalloprotease family signature

Suggested Antigen Peptide Sequences for ACE Gene

GenScript: Design optimal peptide antigens:
  • Kininase II (ACE_HUMAN)
  • cDNA FLJ61451, highly similar to Angiotensin-converting enzyme, testis-specific isoform (EC (B4DXI3_HUMAN)
  • Angiotensin I converting enzyme (Peptidyl-dipeptidase A) 1, isoform CRA_i (D3DU13_HUMAN)
  • Angiotensin I converting enzyme (Q1KSD9_HUMAN)
  • Angiotensin I converting enzyme (Q1KSG0_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M2 family.
  • Belongs to the peptidase M2 family.
genes like me logo Genes that share domains with ACE: view

Function for ACE Gene

Molecular function for ACE Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=;.
UniProtKB/Swiss-Prot Induction:
Up-regulated in failing heart.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.51 mM for Hip-His-Leu {ECO:0000269|PubMed:11076943, ECO:0000269|PubMed:12542396};
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly activated by chloride. Specifically inhibited by lisinopril, captopril and enalaprilat.

Enzyme Numbers (IUBMB) for ACE Gene

Phenotypes From GWAS Catalog for ACE Gene

Gene Ontology (GO) - Molecular Function for ACE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA --
GO:0004175 endopeptidase activity IDA 15283675
GO:0004180 carboxypeptidase activity IEA --
GO:0005515 protein binding IPI --
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ACE: view
genes like me logo Genes that share phenotypes with ACE: view

Human Phenotype Ontology for ACE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACE Gene

MGI Knock Outs for ACE:
  • Ace Ace<tm1.1(KOMP)Vlcg>
  • Ace Ace<tm1Keb>
  • Ace Ace<tm1Mcf>
  • Ace Ace<tm1Unc>
  • Ace Ace<tm2Keb>
  • Ace Ace<tm4Keb>

miRNA for ACE Gene

miRTarBase miRNAs that target ACE

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACE

No data available for Transcription Factor Targets and HOMER Transcription for ACE Gene

Localization for ACE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACE Gene

[Angiotensin-converting enzyme, soluble form]: Secreted.
Cell membrane. Single-pass type I membrane protein. Cytoplasm. Note=Detected in both cell membrane and cytoplasm in neurons. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACE gene
Compartment Confidence
plasma membrane 5
extracellular 5
endosome 4
lysosome 4
cytoskeleton 3
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
cytosol 3
peroxisome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space HDA,IDA 1668266
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IDA 11076943
GO:0005768 endosome IDA 17077303
genes like me logo Genes that share ontologies with ACE: view

Pathways & Interactions for ACE Gene

genes like me logo Genes that share pathways with ACE: view

Pathways by source for ACE Gene

1 GeneGo (Thomson Reuters) pathway for ACE Gene
  • Transcription_CREM signaling in testis
1 Qiagen pathway for ACE Gene
  • Renin-Angiotensin Pathway

SIGNOR curated interactions for ACE Gene


Gene Ontology (GO) - Biological Process for ACE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IMP 16116425
GO:0001974 blood vessel remodeling IC 1668266
GO:0002003 angiotensin maturation IC,TAS --
GO:0002019 regulation of renal output by angiotensin IC 1668266
GO:0002446 neutrophil mediated immunity ISS --
genes like me logo Genes that share ontologies with ACE: view

Drugs & Compounds for ACE Gene

(166) Drugs for ACE Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Captopril Approved Pharma Inhibitor, Inhibition, Target ACE inhibitor, ACE inhibitor; also inhibits LTA4 hydrolase 55
Perindopril Approved Pharma Target, inhibitor ACE inhibitor, Angiotensin-converting enzyme (ACE) inhibitor 72
Ramipril Approved Pharma Target, inhibitor 173
Lisinopril Approved, Investigational Pharma Target, inhibitor ACE inhibitor 134
Benazepril Approved, Investigational Pharma Target, inhibitor 51

(37) Additional Compounds for ACE Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Benazepril hydrochloride
Moexipril hydrochloride

(5) Tocris Compounds for ACE Gene

Compound Action Cas Number
Benazepril hydrochloride Angiotensin-converting enzyme (ACE) inhibitor 86541-74-4
Captopril ACE inhibitor; also inhibits LTA4 hydrolase 62571-86-2
Moexipril hydrochloride Angiotensin-converting enzyme (ACE) inhibitor 82586-52-5
Perindopril erbumine Angiotensin-converting enzyme (ACE) inhibitor 107133-36-8
Spinorphin Enkephalin-degrading and ACE inhibitor 137201-62-8

(30) ApexBio Compounds for ACE Gene

Compound Action Cas Number
Acetyl Angiotensinogen (1-14), porcine Angiotensinogen precursor 66641-26-7
Angiotensin (1-7) Vasoconstriction peptide hormone 51833-78-4
Angiotensin 1/2 (1-5) Vasoconstrictor 58442-64-1
Angiotensin 1/2 (1-6) Vasoconstrictor 47896-63-9
Angiotensin 1/2 (1-9) Vasoconstrictor 34273-12-6
Angiotensin 1/2 + A (2 - 8) 51833-76-2
Angiotensin I (human, mouse, rat) Precursor of angiotensin II 484-42-4
Angiotensin II Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 68521-88-0
Angiotensin III (human, mouse) Aldosterone stimulator 13602-53-4
Benazepril HCl 86541-74-4
Butein Protein kinase inhibitor 487-52-5
Captopril ACE inhibitor 62571-86-2
Cilazapril ACE inhibitor 88768-40-5
Cilazapril Monohydrate 92077-78-6
Enalapril Maleate 76095-16-4
Enalaprilat Dihydrate 84680-54-6
Fosinopril sodium ACE inhibitor 88889-14-9
Imidapril HCl 89396-94-1
Indapamide 26807-65-8
Lisinopril dihydrate ACE inhibitor 83915-83-7
Moexipril HCl ACE inhibitor 82586-52-5
Olmesartan 144689-24-7
Perindopril ACE inhibitor 82834-16-0
Perindopril Erbumine ACE inhibitor 107133-36-8
Quinapril HCl 82586-55-8
Ramipril 87333-19-5
Spinorphin P2X3 receptors against 137201-62-8
Temocapril HCl 110221-44-8
Trandolapril 87679-37-6
Zofenopril calcium 81938-43-4
genes like me logo Genes that share compounds with ACE: view

Drug products for research

Transcripts for ACE Gene

mRNA/cDNA for ACE Gene

14 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACE

Alternative Splicing Database (ASD) splice patterns (SP) for ACE Gene

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: - -
SP8: - -
SP9: -
SP10: -
SP11: - - -
SP12: - - - -

ExUns: 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b
SP1: - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - -
SP6: -
SP7: - - - -
SP8: -

Relevant External Links for ACE Gene

GeneLoc Exon Structure for

Expression for ACE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACE Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x13.4) and Lung (x4.4).

Protein differential expression in normal tissues from HIPED for ACE Gene

This gene is overexpressed in Urine (27.6), Pancreatic juice (18.6), and Serum (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACE Gene

Protein tissue co-expression partners for ACE Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACE

SOURCE GeneReport for Unigene cluster for ACE Gene:


mRNA Expression by UniProt/SwissProt for ACE Gene:

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.

Evidence on tissue expression from TISSUES for ACE Gene

  • Nervous system(4.9)
  • Heart(4.7)
  • Lung(4.6)
  • Liver(4.6)
  • Bone marrow(4.4)
  • Kidney(3.7)
  • Blood(3.7)
  • Muscle(3.5)
  • Intestine(3.2)
  • Urine(3)
  • Skin(3)
  • Thyroid gland(3)
  • Adrenal gland(2.8)
  • Stomach(2.6)
  • Eye(2.5)
  • Pancreas(2.5)
  • Lymph node(2.4)
  • Bone(2.3)
  • Spleen(2.2)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • skull
  • heart
  • lung
  • kidney
  • placenta
  • uterus
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood vessel
genes like me logo Genes that share expression patterns with ACE: view

Primer products for research

Orthologs for ACE Gene

This gene was present in the common ancestor of animals.

Orthologs for ACE Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACE 29
  • 98.77 (n)
(Canis familiaris)
Mammalia LOC610668 29
  • 87.36 (n)
-- 30
  • 84 (a)
(Bos Taurus)
Mammalia ACE 29 30
  • 87.19 (n)
(Mus musculus)
Mammalia Ace 29 16 30
  • 84.48 (n)
(Rattus norvegicus)
Mammalia Ace 29
  • 84.3 (n)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 63 (a)
(Monodelphis domestica)
Mammalia -- 30
  • 60 (a)
(Gallus gallus)
Aves ACE 29 30
  • 71.13 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 65 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ace 29
  • 66.01 (n)
Str.5776 29
(Danio rerio)
Actinopterygii ace 29 30
  • 67.1 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta ANCE9 29
  • 51.26 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ance 30 31
  • 44 (a)
Acer 30 31
  • 40 (a)
Ance-3 30 31
  • 35 (a)
Ance-5 31
  • 27 (a)
Ance-2 31
  • 26 (a)
Ance-4 31
  • 26 (a)
(Caenorhabditis elegans)
Secernentea acn-1 30
  • 24 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 53 (a)
-- 30
  • 46 (a)
-- 30
  • 41 (a)
-- 30
  • 35 (a)
Species where no ortholog for ACE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ACE Gene

Gene Tree for ACE (if available)
Gene Tree for ACE (if available)
Evolutionary constrained regions (ECRs) for ACE: view image
Alliance of Genome Resources:
Additional Orthologs for ACE

Paralogs for ACE Gene

Paralogs for ACE Gene

(1) SIMAP similar genes for ACE Gene using alignment to 21 proteins:

  • D3DU13_HUMAN
  • F5H1K1_HUMAN
  • F6X3S4_HUMAN
  • I6L9B3_HUMAN
  • J3KS28_HUMAN
genes like me logo Genes that share paralogs with ACE: view

Variants for ACE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACE Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1028377 Pathogenic: Renal dysplasia 63,484,364(+) C/T
NM_000789.4(ACE):c.1744C>T (p.Gln582Ter)
1034297 Pathogenic: Renal dysplasia 63,479,030(+) G/GAGCTT
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)
1034298 Pathogenic: Renal dysplasia 63,477,152(+) TTGCTGCTGCCG/T
NM_000789.4(ACE):c.59_69del (p.Leu20fs)
591679 Uncertain Significance: not provided 63,486,690(+) CA/TG
NM_000789.4(ACE):c.2192_2193inv (p.Ala731Val)
813620 Uncertain Significance: Microcephaly 63,491,326(+) C/T
NM_000789.4(ACE):c.2857C>T (p.Arg953Trp)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ACE Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ACE Gene

Variant ID Type Subtype PubMed ID
nsv1055722 CNV gain 25217958
nsv525599 CNV loss 19592680
nsv817771 CNV loss 17921354
nsv962360 CNV duplication 23825009

Variation tolerance for ACE Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.11; 75.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACE Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACE Gene

Disorders for ACE Gene

MalaCards: The human disease database

(350) MalaCards diseases for ACE Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hemorrhage, intracerebral
  • hemorrhage, intracerebral, susceptibility to
microvascular complications of diabetes 3
  • microvascular complications of diabetes, susceptibility to, 3
renal tubular dysgenesis
  • rtd
renal dysplasia
  • kidney dysplasia
renal hypodysplasia/aplasia 1
  • rhda1
- elite association - COSMIC cancer census association via MalaCards
Search ACE in MalaCards View complete list of genes associated with diseases


  • Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269 PubMed:15534175}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). {ECO:0000269 PubMed:16116425}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Microvascular complications of diabetes 3 (MVCD3) [MIM:612624]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. {ECO:0000269 PubMed:10099885}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. {ECO:0000269 PubMed:15277638}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for ACE

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Publications for ACE Gene

  1. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. (PMID: 15534175) Casas JP … Sharma P (Archives of neurology 2004) 3 4 40 72
  2. Structural details on the binding of antihypertensive drugs captopril and enalaprilat to human testicular angiotensin I-converting enzyme. (PMID: 15236580) Natesh R … Acharya KR (Biochemistry 2004) 3 4 22 25
  3. Lack of association between renin-angiotensin system (RAS) polymorphisms and hypertension in Tunisian type 2 diabetics. (PMID: 20415212) Arfa I … Abdelhak S (La Tunisie medicale 2010) 3 22 40
  4. Polymorphisms in NOS3, ACE and PAI-1 genes and risk of spontaneous recurrent miscarriage in the Gaza Strip. (PMID: 20134171) Al Sallout RJ … Sharif FA (Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2010) 3 22 40
  5. Endothelial nitric oxide synthase, angiotensin-converting enzyme and angiotensinogen gene polymorphisms in hypertensive disorders of pregnancy. (PMID: 20186148) Aggarwal PK … Jha V (Hypertension research : official journal of the Japanese Society of Hypertension 2010) 3 22 40

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