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 a... 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
  • DCP1 3 4
  • DCP 3 4
  • Angiotensin Converting Enzyme, Somatic Isoform 3
  • Dipeptidyl Carboxypeptidase 1 3
  • Peptidyl-Dipeptidase A 2
  • Carboxycathepsin 3
  • Peptidase P 3
  • EC 3.4.15.1 4
  • EC 3.2.1.- 4
  • CD143 3
  • ACE1 3

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 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 Microvascular Complications Of Diabetes 3 and Renal Tubular Dysgenesis. Among its related pathways are p70S6K Signaling and ACE Inhibitor 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

Additional gene information 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 for ACE Gene

Promoters and enhancers for ACE Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 750.6 -0.4 -412 5.9 SIN3A CTCF RBPJ POLR2A CC2D1A L3MBTL2 RAD21 MNT TEAD4 BCL6B ACE KCNH6 FTSJ3 DCAF7 MAP3K3 PPIAP55
GH17J063484 Promoter/Enhancer 0.9 EPDnew ENCODE 750.4 +7.8 7830 0.1 CREB1 GTF2F1 NFYB RFX5 ZNF687 CTCF TFAP4 ELF1 ENSG00000264813 ACE CYB561 DCAF7 TACO1 ACE3P
GH17J063486 Promoter 0.3 EPDnew 750.4 +9.6 9550 0.1 ENSG00000264813 ACE CYB561 DCAF7 TACO1 ACE3P
GH17J063549 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.2 +73.8 73811 4.1 SP1 ZBTB40 SREBF1 RBPJ POLR2A CEBPZ ATF1 FOS ZNF217 CREB1 DCAF7 FTSJ3 CEP95 POLG2 DDX42 DDX5 SMARCD2 CSH2 ENSG00000263501 ENSG00000259333
GH17J063431 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -42.7 -42719 6.2 PPP1R10 SIN3A ZBTB40 CTCF ZBTB6 RBPJ SMARCE1 CTBP1 MIXL1 MYC DDX42 FTSJ3 CYB561 SMARCD2 TLK2 DCAF7 PPIAP55 ACE ERN1 TACO1
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ACE Gene

Genomic Locations for ACE Gene
chr17:63,477,061-63,498,380
(GRCh38/hg38)
Size:
21,320 bases
Orientation:
Plus strand
chr17:61,554,422-61,599,205
(GRCh37/hg19)
Size:
44,784 bases
Orientation:
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:
    P12821-ACE_HUMAN
    Recommended name:
    Angiotensin-converting enzyme
    Protein Accession:
    P12821
    Secondary Accessions:
    • B0LPF0
    • B4DXI3
    • E7EU16
    • P22966
    • Q53YX9
    • Q59GY8
    • Q7M4L4

    Protein attributes for ACE Gene

    Size:
    1306 amino acids
    Molecular mass:
    149715 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Cofactor:
    Name=chloride; Xref=ChEBI:CHEBI:17996;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 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.
    SequenceCaution:
    • Sequence=BAD92208.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    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

Antibody Products

No data available for DME Specific Peptides for ACE Gene

Domains & Families for ACE Gene

Gene Families for ACE Gene

HGNC:
IUPHAR :
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

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 3.4.15.1) (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

P12821

UniProtKB/Swiss-Prot:

ACE_HUMAN :
  • Belongs to the peptidase M2 family.
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=3.4.15.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly activated by chloride. Specifically inhibited by lisinopril, captopril and enalaprilat.
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 Induction:
Up-regulated in failing heart.

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:0004175 endopeptidase activity IDA 15283675
GO:0004180 carboxypeptidase activity IEA --
GO:0008144 drug binding IDA 1320019
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,TAS 2554286
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<tm4Keb>
  • Ace Ace<tm1Unc>
  • Ace Ace<tm1Mcf>
  • Ace Ace<tm2Unc>
  • Ace Ace<tm1Keb>
  • Ace Ace<tm2Keb>
  • Ace Ace<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for ACE Gene

miRTarBase miRNAs that target ACE

Clone Products

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

COMPARTMENTS
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
cytosol 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 1

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 IDA,IBA 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

SIGNOR curated interactions for ACE Gene

Activates:

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

(168) 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 Inhibition, Inhibitor, Target, inhibitor ACE inhibitor, ACE inhibitor; also inhibits LTA4 hydrolase 41
Perindopril Approved Pharma Target, inhibitor ACE inhibitor, Angiotensin-converting enzyme (ACE) inhibitor 59
Ramipril Approved Pharma Target, inhibitor 161
Lisinopril Approved, Investigational Pharma Target, inhibitor ACE inhibitor 127
Benazepril Approved, Investigational Pharma Target, inhibitor 48

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Benazepril hydrochloride
86541-74-4
Moexipril hydrochloride
82586-52-5

(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

Transcripts for ACE Gene

CRISPR Products

Clone Products

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: - -
SP6:
SP7:
SP8: - -
SP9: -
SP10: -
SP11: - - -
SP12: - - - -
SP13:
SP14:

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: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for ACE Gene

GeneLoc Exon Structure for
ACE
ECgene alternative splicing isoforms for
ACE

Expression for ACE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of ACE Gene:

ACE

SOURCE GeneReport for Unigene cluster for ACE Gene:

Hs.298469

mRNA Expression by UniProt/SwissProt for ACE Gene:

P12821-ACE_HUMAN
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(4.8)
  • Lung(4.7)
  • Liver(4.5)
  • Bone marrow(4.3)
  • Blood(4)
  • Kidney(3.9)
  • Muscle(3.6)
  • Intestine(2.9)
  • Urine(2.9)
  • Adrenal gland(2.5)
  • Skin(2.4)
  • Thyroid gland(2.3)
  • Eye(2.1)
  • Lymph node(2)
  • Stomach(2)

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

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

Orthologs for ACE Gene

This gene was present in the common ancestor of animals.

Orthologs for ACE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACE 32
  • 98.77 (n)
dog
(Canis familiaris)
Mammalia LOC610668 32
  • 87.36 (n)
-- 33
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ACE 33 32
  • 87.19 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Ace 17 33 32
  • 84.48 (n)
rat
(Rattus norvegicus)
Mammalia Ace 32
  • 84.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACE 33 32
  • 71.13 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ace 32
  • 66.01 (n)
Str.5776 32
zebrafish
(Danio rerio)
Actinopterygii ace 33 32
  • 67.1 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta ANCE9 32
  • 51.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ance 33 34
  • 44 (a)
ManyToMany
Acer 33 34
  • 40 (a)
ManyToMany
Ance-3 33 34
  • 35 (a)
ManyToMany
Ance-5 34
  • 27 (a)
Ance-4 34
  • 26 (a)
Ance-2 34
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea acn-1 33
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 53 (a)
ManyToMany
-- 33
  • 46 (a)
ManyToMany
-- 33
  • 41 (a)
ManyToMany
-- 33
  • 35 (a)
ManyToMany
Species where no ortholog for ACE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

ENSEMBL:
Gene Tree for ACE (if available)
TreeFam:
Gene Tree for ACE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACE: view image

Paralogs for ACE Gene

Paralogs for ACE Gene

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

  • ACE_HUMAN
  • D3DU13_HUMAN
  • F5H1K1_HUMAN
  • F6X3S4_HUMAN
  • I3UJJ7_HUMAN
  • I6L9B3_HUMAN
  • J3KRH5_HUMAN
  • J3KRQ0_HUMAN
  • J3KS28_HUMAN
  • J3KSQ5_HUMAN
  • J3KTB8_HUMAN
  • J3KTH9_HUMAN
  • J3QKZ3_HUMAN
  • J3QLR4_HUMAN
  • J3QRX8_HUMAN
  • J3QSC7_HUMAN
  • L7MUH0_HUMAN
  • Q1KSD9_HUMAN
  • Q1KSG0_HUMAN
  • Q3KRI4_HUMAN
  • Q3KRI5_HUMAN
genes like me logo Genes that share paralogs with ACE: view

Variants for ACE Gene

Sequence variations from dbSNP and Humsavar for ACE Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1055086 benign, Renal dysplasia 63,498,276(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1110991 uncertain-significance, Renal dysplasia 63,477,139(+) G/A/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs111618613 uncertain-significance, Renal dysplasia 63,497,871(+) C/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs112901380 likely-benign, Renal dysplasia 63,498,075(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs114000559 uncertain-significance, Renal dysplasia 63,478,106(+) G/A genic_upstream_transcript_variant, intron_variant

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)
ACE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACE

SNP Genotyping and Copy Number Assay Products

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

Disorders for ACE Gene

MalaCards: The human disease database

(163) MalaCards diseases for ACE Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microvascular complications of diabetes 3
  • end-stage renal disease, diabetic
renal tubular dysgenesis
  • rtd
hemorrhage, intracerebral
  • hemorrhage, intracerebral, susceptibility to
renal dysplasia
  • renal cell dysplasia
nephrosclerosis
  • renal sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search ACE in MalaCards View complete list of genes associated with disea