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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ACE
angiotensin I converting enzyme
Chromosome 17 Β· 17q23.3
NCBI Gene: 1636Ensembl: ENSG00000159640.18HGNC: HGNC:2707UniProt: B4DKH4
2,770PubMed Papers
24Diseases
24Drugs
64Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneProtease
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
kidney developmentpeptidase activitymetallopeptidase activityexopeptidase activitydiabetic nephropathyhypertensionrenal tubular dysgenesisrenal tubular dysgenesis of genetic origin
✦AI Summary

ACE (angiotensin I converting enzyme) is a metallopeptidase that functions as a key regulatory enzyme in the renin-angiotensin system with significant implications for cardiovascular physiology and human performance. The gene exhibits an insertion/deletion (I/D) polymorphism that substantially impacts human physical performance, with the I allele consistently associated with endurance-oriented activities and the D allele linked to strength- and power-oriented performance 1. Meta-analysis confirms that individuals with the ACE II genotype have a significantly higher likelihood of being endurance athletes compared to controls 2. At the molecular level, ACE forms functional complexes with bradykinin B2 receptors at the plasma membrane, where ACE inhibitors enhance bradykinin actions through mechanisms independent of blocking bradykinin degradation 3. The enzyme also interacts with other components of the renin-angiotensin system, including ACE2, where therapeutic agents like thymosin-Ξ±1 can bind ACE and modulate ACE2 expression in respiratory epithelia 4. Population studies reveal significant genetic diversity in ACE polymorphisms across different ethnic groups, with implications for susceptibility to infectious diseases including COVID-19 and malaria 5. Additionally, ACE expression varies in reproductive tissues, though ACE inhibitors do not significantly affect endometrial receptivity for embryo implantation 6.

Sources cited
1
ACE I/D polymorphism impacts human physical performance, with I allele associated with endurance and D allele with strength/power
PMID: 21615186
2
Meta-analysis showing ACE II genotype significantly associated with endurance athletic status
PMID: 34028240
3
ACE forms complexes with bradykinin B2 receptors at plasma membrane and ACE inhibitors enhance bradykinin actions
PMID: 17077303
4
Thymosin-Ξ±1 binds ACE and modulates ACE2 expression in respiratory epithelia
PMID: 35226991
5
ACE genetic polymorphisms show population diversity and link to infectious disease susceptibility
PMID: 38367677
6
ACE expression in endometrial tissues and lack of effect of ACE inhibitors on embryo implantation
PMID: 35688117
Disease Associationsβ“˜24
diabetic nephropathyOpen Targets
0.77Strong
hypertensionOpen Targets
0.75Strong
renal tubular dysgenesisOpen Targets
0.73Strong
renal tubular dysgenesis of genetic originOpen Targets
0.72Strong
cardiovascular diseaseOpen Targets
0.71Strong
diabetes mellitusOpen Targets
0.66Moderate
intracerebral hemorrhageOpen Targets
0.65Moderate
heart failureOpen Targets
0.61Moderate
congestive heart failureOpen Targets
0.61Moderate
myocardial infarctionOpen Targets
0.61Moderate
coronary artery diseaseOpen Targets
0.60Moderate
essential hypertensionOpen Targets
0.59Moderate
strokeOpen Targets
0.58Moderate
neurodegenerative diseaseOpen Targets
0.57Moderate
Alzheimer diseaseOpen Targets
0.56Moderate
kidney failureOpen Targets
0.55Moderate
type 2 diabetes mellitusOpen Targets
0.53Moderate
dementiaOpen Targets
0.49Moderate
diabetic retinopathyOpen Targets
0.47Moderate
rheumatic diseaseOpen Targets
0.46Moderate
Intracerebral hemorrhageUniProt
Ischemic strokeUniProt
Microvascular complications of diabetes 3UniProt
Renal tubular dysgenesisUniProt
Pathogenic Variants64
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)Pathogenic
Renal tubular dysgenesis|not provided|Abnormality of prenatal development or birth
β˜…β˜…β˜†β˜†2025β†’ Residue 496
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)Pathogenic
not provided|ACE-related disorder|Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2025β†’ Residue 149
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del)Pathogenic
not provided|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2025β†’ Residue 13
NM_000789.4(ACE):c.1487G>A (p.Arg496Gln)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 496
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)Pathogenic
Renal tubular dysgenesis|not provided|Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to
β˜…β˜…β˜†β˜†2025β†’ Residue 791
NM_000789.4(ACE):c.21_30del (p.Arg8fs)Pathogenic
Renal tubular dysgenesis of genetic origin|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024β†’ Residue 8
NM_000789.4(ACE):c.1709+5G>CPathogenic
Congenital anomaly of kidney and urinary tract|Renal tubular dysgenesis|not provided
β˜…β˜…β˜†β˜†2024
NM_000789.4(ACE):c.1511del (p.Pro504fs)Likely pathogenic
ACE-related disorder|Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024β†’ Residue 504
NM_000789.4(ACE):c.3503+1G>CLikely pathogenic
Renal tubular dysgenesis|Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin;Microvascular complications of diabetes, susceptibility to, 3|Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024
NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs)Pathogenic
Hereditary angioedema with normal C1Inh|not provided|Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3
β˜…β˜…β˜†β˜†2024β†’ Residue 491
NM_000789.4(ACE):c.1186C>T (p.Gln396Ter)Pathogenic
not provided|Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3
β˜…β˜…β˜†β˜†2024β†’ Residue 396
NM_000789.4(ACE):c.1342+1G>TLikely pathogenic
Renal tubular dysgenesis of genetic origin|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024
NM_000789.4(ACE):c.945+2T>GLikely pathogenic
not provided|Renal tubular dysgenesis of genetic origin;Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3
β˜…β˜…β˜†β˜†2024
NM_000789.4(ACE):c.232G>T (p.Glu78Ter)Pathogenic
not provided|Microvascular complications of diabetes, susceptibility to, 3;Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024β†’ Residue 78
NM_000789.4(ACE):c.793C>T (p.Arg265Ter)Pathogenic
not provided|Hemorrhage, intracerebral, susceptibility to;Microvascular complications of diabetes, susceptibility to, 3;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024β†’ Residue 265
NM_000789.4(ACE):c.798C>G (p.Tyr266Ter)Pathogenic
Renal tubular dysgenesis|Hemorrhage, intracerebral, susceptibility to;Renal tubular dysgenesis of genetic origin;Microvascular complications of diabetes, susceptibility to, 3|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 266
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)Pathogenic
not provided|Renal tubular dysgenesis|Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2023β†’ Residue 508
NM_000789.4(ACE):c.2T>C (p.Met1Thr)Pathogenic
not provided|Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2021β†’ Residue 1
NM_000789.4(ACE):c.12_31del (p.Ser5fs)Pathogenic
Renal tubular dysgenesis|not provided
β˜…β˜…β˜†β˜†2018β†’ Residue 5
NM_000789.4(ACE):c.51del (p.Leu18fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 18
View on ClinVar β†—
Drug Targets24
BENAZEPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
BENAZEPRIL HYDROCHLORIDEApproved
Angiotensin-converting enzyme inhibitor
hypertension
CAPTOPRILApproved
Angiotensin-converting enzyme inhibitor
congestive heart failure
CILAZAPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
DELAPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
ENALAPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
ENALAPRILATApproved
Angiotensin-converting enzyme inhibitor
ENALAPRIL MALEATEApproved
Angiotensin-converting enzyme inhibitor
hypertension
FOSINOPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
FOSINOPRIL SODIUMApproved
Angiotensin-converting enzyme inhibitor
hypertension
ILEPATRILPhase II/III
Angiotensin-converting enzyme inhibitor
diabetic nephropathy
IMIDAPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
LISINOPRILApproved
Angiotensin-converting enzyme inhibitor
hypertension
LISINOPRIL ANHYDROUSPhase III
Angiotensin-converting enzyme inhibitor
diabetic nephropathy
MOEXIPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
MOEXIPRIL HYDROCHLORIDEApproved
Angiotensin-converting enzyme inhibitor
hypertension
PERINDOPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
PERINDOPRIL ARGININEApproved
Angiotensin-converting enzyme inhibitor
hypertension
PERINDOPRIL ERBUMINEApproved
Angiotensin-converting enzyme inhibitor
coronary artery disease
QUINAPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
QUINAPRIL HYDROCHLORIDEApproved
Angiotensin-converting enzyme inhibitor
RAMIPRILApproved
Angiotensin-converting enzyme inhibitor
stroke
SPIRAPRILApproved
Angiotensin-converting enzyme inhibitor
cardiovascular disease
TRANDOLAPRILApproved
Angiotensin-converting enzyme inhibitor
hypertension
Related Genes
KNG1Protein interaction100%APOEProtein interaction100%AGTR2Protein interaction99%CYP11B2Protein interaction99%ATP6AP2Protein interaction99%NR3C2Protein interaction94%
Tissue Expression6 tissues
Lung
100%
Heart
70%
Brain
26%
Ovary
11%
Liver
8%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
ACEKNG1APOEAGTR2CYP11B2ATP6AP2NR3C2
PROTEIN STRUCTURE
Preparing viewer…
PDB6H5W Β· 1.37 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.66–0.88]
RankingsWhere ACE stands among ~20K protein-coding genes
  • #25of 20,598
    Most Researched2,770 Β· top 1%
  • #73of 1,025
    FDA-Approved Drug Targets22 Β· top 10%
  • #1,113of 5,498
    Most Pathogenic Variants64 Β· top quartile
  • #7,816of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedACE
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Etheric biology.
PMID: 15893748
Exp Mol Pathol Β· 2005
1.00
2
Association of the ACE and AGT gene polymorphisms with global disparities in COVID-19-related deaths.
PMID: 36853865
Pharmacogenet Genomics Β· 2023
0.94
3
The ACE gene and human performance: 12 years on.
PMID: 21615186
Sports Med Β· 2011
0.90
4
ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.
PMID: 27075997
BMC Genomics Β· 2016
0.84
5
A meta-analysis on the association of ACE and PPARA gene variants and endurance athletic status.
PMID: 34028240
J Sports Med Phys Fitness Β· 2022
0.80