ACE (angiotensin I converting enzyme)

2007-02-01  

Identity

HGNC
ACE
LOCATION
17q23.3
LOCUSID
1636
ALIAS
ACE1,CD143,DCP,DCP1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1636
MIM: 106180
HGNC: 2707
Ensembl: ENSG00000159640

Variants:

dbSNP: 1636
ClinVar: 1636
TCGA: ENSG00000159640
COSMIC: ACE

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159640ENST00000290863P12821
ENSG00000159640ENST00000290866P12821
ENSG00000159640ENST00000413513P12821
ENSG00000159640ENST00000428043A0A0A0MSN4
ENSG00000159640ENST00000578839J3QSC7
ENSG00000159640ENST00000579204J3QSC7
ENSG00000159640ENST00000579314J3KSQ5
ENSG00000159640ENST00000579409J3QRX8
ENSG00000159640ENST00000579726J3QLR4
ENSG00000159640ENST00000582005J3KRH5
ENSG00000159640ENST00000582627J3KS28
ENSG00000159640ENST00000582678J3KTH9
ENSG00000159640ENST00000582761J3KTB8

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Renin-angiotensin systemKEGGko04614
Renin-angiotensin systemKEGGhsa04614
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
Renin secretionKEGGhsa04924
Renin secretionKEGGko04924
Metabolism of proteinsREACTOMER-HSA-392499
Peptide hormone metabolismREACTOMER-HSA-2980736
Metabolism of Angiotensinogen to AngiotensinsREACTOMER-HSA-2022377

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10407calcium channel blockersChemicalClinicalAnnotationassociated24444405
PA133950441hmg coa reductase inhibitorsChemicalVipGeneassociated11545752, 10636265
PA143485705antiepilepticsChemicalClinicalAnnotationassociated24444405
PA164712308Ace Inhibitors, PlainChemicalClinicalAnnotation, VipGeneassociatedPD10999650, 11007831, 11217909, 11931993, 15773232, 15967849, 19290794, 8986921, 9270093, 9535416, 9726242, 10335726, 19752885, 23407050
PA164712372Angiotensin II AntagonistsChemicalVipGeneassociated12065207, 11593098
PA164712535Beta Blocking AgentsChemicalClinicalAnnotation, VipGeneassociated12844134, 8728305, 11593098, 24444405
PA164712760FibratesChemicalVipGeneassociated12123487
PA164713347Thiazides, plainChemicalClinicalAnnotation, VipGeneassociatedPD12623934, 12371972, 19247266
PA164748302cilazaprilChemicalVipGeneassociated10999650, 11007831, 11217909, 15773232, 15967849, 19290794, 8986921, 9270093, 9535416, 9726242, 10335726
PA166155187rs1799752VariantVipGeneassociated10636265, 10999650, 11007831, 11217909, 11545752, 11593098, 12065207, 12123487, 12371972, 12623934, 12729939, 12844134, 12925557, 15773232, 15967849, 16690893, 17496728, 18363935, 19290794, 7955173, 8591889, 8728305, 8986921, 9270093, 9535416, 9726242, 10335726
PA166156024rs4680VariantVipGeneassociated12729939
PA166156276rs5186VariantVipGeneassociated11545752, 10636265
PA166156480rs4961VariantVipGeneassociated12623934, 12371972
PA443319Alzheimer DiseaseDiseaseClinicalAnnotationassociatedPD27546928
PA443425ArteriosclerosisDiseaseClinicalAnnotationassociatedPD10880412, 12799093, 8538349, 8986921, 9661139
PA443450AsthmaDiseaseClinicalAnnotationassociatedPD18727619
PA443632Cardiomyopathy, DilatedDiseaseVipGeneassociated15073454
PA443635Cardiovascular DiseasesDiseaseVipGeneassociated8743524, 15073454
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD10636265, 16116691
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD10880412, 12799093, 8538349, 8986921, 9661139
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD11007831, 15788353, 19247266
PA443888Diabetes Mellitus, Type 1DiseaseClinicalAnnotationassociatedPD9726242, 9869506
PA443890Diabetes Mellitus, Type 2DiseaseClinicalAnnotationassociatedPD19286758, 20830509, 9069453, 9551410, 9869506
PA444288Glomerulonephritis, IGADiseaseClinicalAnnotationassociatedPD10880412, 12799093, 8538349, 8986921, 9661139
PA444370Heart FailureDiseaseClinicalAnnotation, VipGeneassociatedPD15073454, 15121491, 19286758, 20830509, 9069453, 9551410, 9726242, 9869506
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD11593098, 20577119
PA444606Erectile DysfunctionDiseaseClinicalAnnotationassociatedPD12837457
PA444682Kidney DiseasesDiseaseClinicalAnnotation, VipGeneassociatedPD10880412, 12799093, 8538349, 8743524, 8986921, 9661139
PA444949Migraine without AuraDiseaseClinicalAnnotationassociated24444405
PA445018CardiomyopathiesDiseaseVipGeneassociated8743524
PA445019Myocardial InfarctionDiseaseVipGeneassociated8743524, 15073454
PA446479Hypertrophy, Left VentricularDiseaseClinicalAnnotationassociatedPD11593098
PA447004Migraine with AuraDiseaseClinicalAnnotationassociated24444405
PA447076Headache DisordersDiseaseClinicalAnnotationassociated24444405
PA447178Pulmonary Disease, Chronic ObstructiveDiseaseClinicalAnnotationassociatedPD19286758, 20830509, 9069453, 9551410, 9869506
PA447207Depressive DisorderDiseaseClinicalAnnotationassociatedPD27262302
PA447283glomerular diseaseDiseaseClinicalAnnotationassociatedPD10880412, 12799093, 8538349, 8986921, 9661139
PA447288Essential hypertensionDiseaseClinicalAnnotation, VipGeneassociatedPD10880412, 12371972, 12799093, 21269061, 8538349, 8743524, 8986921, 9661139
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD22947179
PA448031acetylcholineChemicalClinicalAnnotationassociatedPD10334805
PA448388amlodipineChemicalClinicalAnnotationassociatedPD20577119
PA448497aspirinChemicalClinicalAnnotationassociatedPD18727619
PA448499atenololChemicalVipGeneassociated12844134, 8728305, 11593098
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD16116691
PA448561benazeprilChemicalClinicalAnnotation, VipGeneassociatedPD10999650, 11007831, 11217909, 15773232, 15967849, 19290794, 8986921, 9270093, 9535416, 9726242, 10335726, 11007831, 15788353
PA448682bumetanideChemicalClinicalAnnotationassociatedPD20877298
PA448687bupropionChemicalClinicalAnnotationassociatedPD22947179
PA448765candesartanChemicalVipGeneassociated12065207, 11593098
PA448780captoprilChemicalClinicalAnnotationassociatedPD19286758, 20830509, 27546928, 9069453, 9551410, 9869506
PA448970chlorthalidoneChemicalClinicalAnnotationassociatedPD20577119
PA449456enalaprilChemicalClinicalAnnotationassociatedPD10880412, 12799093, 8538349, 8986921, 9661139
PA449673fluoxetineChemicalClinicalAnnotationassociatedPD27262302
PA449688fluvastatinChemicalClinicalAnnotation, VipGeneassociatedPD11545752, 10636265
PA449719furosemideChemicalClinicalAnnotationassociatedPD20877298
PA449750gemfibrozilChemicalVipGeneassociated12123487
PA449899hydrochlorothiazideChemicalClinicalAnnotation, VipGeneassociatedPD12623934, 12371972, 21269061
PA450084irbesartanChemicalClinicalAnnotation, VipGeneassociatedPD12065207, 11593098
PA450242lisinoprilChemicalClinicalAnnotation, VipGeneassociatedPD10999650, 11007831, 11217909, 15773232, 15967849, 19290794, 8986921, 9270093, 9535416, 9726242, 10335726, 20577119, 9726242, 9869506
PA450480metoprololChemicalVipGeneassociated12844134, 8728305, 11593098
PA450877perindoprilChemicalClinicalAnnotationassociatedPD11007831, 15788353
PA451089pravastatinChemicalClinicalAnnotation, VipGeneassociatedPD11545752, 10636265, 12695469, 16103896
PA451205quinaprilChemicalClinicalAnnotationassociatedPD16116691
PA451223ramiprilChemicalClinicalAnnotationassociatedPD
PA451333sertralineChemicalClinicalAnnotationassociatedPD27262302
PA451346sildenafilChemicalClinicalAnnotationassociatedPD12837457
PA451406nitroprussideChemicalClinicalAnnotationassociatedPD10334805
PA451483spironolactoneChemicalClinicalAnnotationassociatedPD15121491
PA451733torasemideChemicalClinicalAnnotationassociatedPD20877298
PA452229antidepressantsChemicalClinicalAnnotationassociated24444405
PA452233antipsychoticsChemicalVipGeneassociated12729939

References

Pubmed IDYearTitleCitations
375076442024ACE Gene I/D Polymorphism and Cardiometabolic Risk Factors: A Cross Sectional Study of Rural Population.0
379928072024Testicular ACE regulates sperm metabolism and fertilization through the transcription factor PPARγ.2
379976342024Association of GNB3, ACE polymorphisms with POAG and NTG.0
382005552024Impact of ACE I gene insertion/deletion, A-240T polymorphisms and the renin-angiotensin-aldosterone system on COVID-19 disease.0
382522332024ACE I/D polymorphism is a risk factor for the clinical severity of COVID-19 in Brazilian male patients.0
383073962024Host genetics and the profile of COVID-19 in indigenous people from the Brazilian Amazon: A pilot study with variants of the ACE1, ACE2 and TMPRSS2 genes.0
383676772024Polymorphisms in the human angiotensin converting enzyme gene (ACE) linked to susceptibility of COVID-19 and malaria infections in the Ghanaian population.0
383804502024Genetic Variations of Angiotensinogen, Angiotensin Converting Enzyme, and Angiotensin Type 1 Receptor with the Risk of Pulmonary Tuberculosis.0
375076442024ACE Gene I/D Polymorphism and Cardiometabolic Risk Factors: A Cross Sectional Study of Rural Population.0
379928072024Testicular ACE regulates sperm metabolism and fertilization through the transcription factor PPARγ.2
379976342024Association of GNB3, ACE polymorphisms with POAG and NTG.0
382005552024Impact of ACE I gene insertion/deletion, A-240T polymorphisms and the renin-angiotensin-aldosterone system on COVID-19 disease.0
382522332024ACE I/D polymorphism is a risk factor for the clinical severity of COVID-19 in Brazilian male patients.0
383073962024Host genetics and the profile of COVID-19 in indigenous people from the Brazilian Amazon: A pilot study with variants of the ACE1, ACE2 and TMPRSS2 genes.0
383676772024Polymorphisms in the human angiotensin converting enzyme gene (ACE) linked to susceptibility of COVID-19 and malaria infections in the Ghanaian population.0

Citation

Dessen P

ACE (angiotensin I converting enzyme)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46128/deep-insight-explorer/case-report-explorer/css/lib/dataTables.bootstrap.min.css