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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
  • 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
  • Angiotensin-Converting Enzyme 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 Transcription_CREM signaling in testis and Dilated cardiomyopathy (DCM). 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 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 , fRNAdb sequence ontologies 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 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.4 -418 5.9 HDGF ARID4B SIN3A ZNF2 ZBTB7B IRF4 ZNF143 SP3 REST SMARCB1 ACE KCNH6 FTSJ3 MAP3K3 PPIAP55
GH17J063484 Promoter/Enhancer 1.1 EPDnew ENCODE 650.4 +7.8 7830 0.1 GTF2F1 CTCF ZNF687 TFAP4 ELF1 RAD21 RFX5 NFYB CREB1 ZNF444 ENSG00000264813 ACE CYB561 DCAF7 TACO1 ACE3P
GH17J063486 Promoter 0.7 EPDnew 650.4 +9.6 9550 0.1 ZNF600 EGR2 ENSG00000264813 ACE CYB561 DCAF7 TACO1 ACE3P
GH17J063431 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.3 -42.5 -42533 6.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YBX1 FEZF1 CYB561 DDX42 FTSJ3 PPIAP55 ACE TACO1 SMARCD2 ENSG00000265282 PIR45110 GC17M063420
GH17J063549 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.2 +73.9 73939 3.9 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 DCAF7 FTSJ3 DDX42 POLG2 CEP95 CSH2 ENSG00000263501 ENSG00000259333 LOC100419888 TRMT112P3
- 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:
  • Sp1
  • GR-alpha

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=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 Asn1191, posLast=942942, Asn760, posLast=714714, Asn695, posLast=677677, posLast=509509, Asn445, Asn318, posLast=160160, Asn146, posLast=111111, Asn74, Asn54, and Asn38
  • Modification sites at PhosphoSitePlus

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

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:
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.
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<tm2Unc>
  • Ace Ace<tm2Keb>
  • Ace Ace<tm1Mcf>
  • Ace Ace<tm1Unc>
  • Ace Ace<tm4Keb>
  • Ace Ace<tm1Keb>
  • Ace Ace<tm1.1(KOMP)Vlcg>

Animal Model 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
lysosome 5
endosome 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 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

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 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

No data available for SIGNOR curated interactions for ACE Gene

Drugs & Compounds for ACE Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Captopril Approved Pharma Inhibition, Inhibitor, inhibitor, Target ACE inhibitor, ACE inhibitor; also inhibits LTA4 hydrolase 37
Perindopril Approved Pharma inhibitor, Target ACE inhibitor, Angiotensin-converting enzyme (ACE) inhibitor 52
Ramipril Approved Pharma inhibitor, Target 155
Lisinopril Approved, Investigational Pharma inhibitor, Target ACE inhibitor 123
Benazepril Approved, Investigational Pharma inhibitor, Target 46

(44) Additional Compounds for ACE Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
16887-00-6
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
genes like me logo Genes that share compounds with ACE: view

Drug Products

Transcripts for ACE Gene

Unigene Clusters for ACE Gene

Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1:
Representative Sequences:

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 33
  • 98.77 (n)
dog
(Canis familiaris)
Mammalia LOC610668 33
  • 87.36 (n)
-- 34
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ACE 34 33
  • 87.19 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Ace 16 34 33
  • 84.48 (n)
rat
(Rattus norvegicus)
Mammalia Ace 33
  • 84.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 60 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACE 34 33
  • 71.13 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 65 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ace 33
  • 66.01 (n)
Str.5776 33
zebrafish
(Danio rerio)
Actinopterygii ace 34 33
  • 67.1 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta ANCE9 33
  • 51.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ance 34 35
  • 44 (a)
ManyToMany
Acer 34 35
  • 40 (a)
ManyToMany
Ance-3 34 35
  • 35 (a)
ManyToMany
Ance-5 35
  • 27 (a)
Ance-4 35
  • 26 (a)
Ance-2 35
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea acn-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
-- 34
  • 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
rs1055193279 uncertain-significance, Renal dysplasia 63,497,551(+) G/A 3_prime_UTR_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

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

(152) 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
renal dysplasia
  • renal cell dysplasia
hemorrhage, intracerebral
  • hemorrhage, intracerebral, susceptibility to
anuria
  • suppression of urinary secretion
- elite association - COSMIC cancer census association via MalaCards
Search ACE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACE_HUMAN
  • 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 variations 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 mutations 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 variations 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 variations affecting the gene represented in this entry.

Additional Disease Information for ACE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACE: view

No data available for Genatlas for ACE Gene

Publications for ACE Gene

  1. 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 58
  2. 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 44 58
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