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GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACE2
angiotensin converting enzyme 2
Chromosome X · Xp22.2
NCBI Gene: 59272Ensembl: ENSG00000130234.13HGNC: HGNC:13557UniProt: A0A7I2V4H0
1,724PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneProteaseReceptor
RESEARCH IMPACT
Highly Studied
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular regionpositive regulation of L-proline import across plasma membraneamino acid import across plasma membraneregulation of cardiac conductionCOVID-19severe acute respiratory syndromeneurodegenerative diseaseAlzheimer disease
✦AI Summary

ACE2 (angiotensin-converting enzyme 2) is a multifunctional membrane protein with critical roles in both systemic physiology and viral pathogenesis. Physiologically, ACE2 functions as a key counter-regulator of the renin-angiotensin-aldosterone system (RAAS), providing cardioprotective and pulmonary regulatory functions 1. The protein is highly expressed in heart, kidney, and lung tissues, where it regulates vascular function and inflammatory responses 1. ACE2's most clinically significant role is as the primary cell-surface receptor for SARS-CoV-2 viral entry 2. The spike protein of SARS-CoV-2 binds ACE2 through a well-characterized molecular interface that has shaped viral evolution 2. ACE2 expression is found in diverse tissues including salivary glands 3, oocytes 4, and spermatozoa 5, suggesting multi-route viral transmission potential. Notably, bat-infecting merbecovirus HKU5-CoV lineage 2 efficiently utilizes human ACE2 as a functional receptor, indicating zoonotic spillover risk 6. ACE2 expression is regulated by multiple mechanisms: transcriptional factors (STAT3, HNFs, GATA6), histone modifications, post-translational modifications including phosphorylation and SUMOylation, and ubiquitin-mediated degradation 7. In COVID-19, SARS-CoV-2 paradoxically upregulates ACE2 levels, enhancing host cell susceptibility 7. ACE2 dysregulation is associated with chrX diseases including hypertension, diabetes, and lung injury 7.

Sources cited
1
ACE2 is the functional receptor for SARS-CoV-2 entry, highly expressed in heart/kidney/lungs; regulates RAAS and affects COVID-19 progression
PMID: 33389262
2
Spike glycoprotein binds ACE2 as main receptor; interaction has shaped viral evolution
PMID: 37285618
3
ACE2 regulation via transcription factors, histone modifications, phosphorylation, SUMOylation, ubiquitination, and degradation; SARS-CoV-2 upregulates ACE2
PMID: 37608279
4
Bat merbecovirus HKU5-CoV lineage 2 efficiently uses human ACE2 as functional receptor with zoonotic risk
PMID: 39970913
5
ACE2 and TMPRSS2 expressed in salivary glands; spike protein binds salivary ACE2
PMID: 34590312
6
Human oocytes express ACE2 gene and protein, possessing molecular machinery for SARS-CoV-2 entry
PMID: 33403489
7
ACE2 and short-ACE2 isoform expressed on human spermatozoa
PMID: 35409054
Disease Associationsⓘ20
COVID-19Open Targets
0.69Moderate
severe acute respiratory syndromeOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
Alzheimer diseaseOpen Targets
0.21Weak
Parkinson diseaseOpen Targets
0.20Weak
multiple sclerosisOpen Targets
0.18Weak
lysosomal storage diseaseOpen Targets
0.18Weak
neuroinflammatory disorderOpen Targets
0.14Weak
inflammatory bowel diseaseOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
infectionOpen Targets
0.12Weak
hypertrophic cardiomyopathyOpen Targets
0.12Weak
pulmonary arterial hypertensionOpen Targets
0.12Weak
cancerOpen Targets
0.12Weak
chronic obstructive pulmonary diseaseOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
lung cancerOpen Targets
0.11Weak
idiopathic pulmonary fibrosisOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
ulcerative colitisOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMPRSS4Protein interaction100%CD8AProtein interaction100%SLC6A20Protein interaction100%TNFProtein interaction97%IL6Protein interaction97%MEP1AProtein interaction96%
Tissue Expression6 tissues
Heart
100%
Liver
8%
Ovary
6%
Lung
3%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ACE2TMPRSS4CD8ASLC6A20TNFIL6MEP1A
PROTEIN STRUCTURE
Preparing viewer…
PDB8BYJ · 2.07 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.35Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.23 [0.15–0.35]
RankingsWhere ACE2 stands among ~20K protein-coding genes
  • #66of 20,598
    Most Researched1,724 · top 1%
  • #1,573of 17,882
    Most Constrained (LOEUF)0.35 · top 10%
Genes detectedACE2
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Bat-infecting merbecovirus HKU5-CoV lineage 2 can use human ACE2 as a cell entry receptor.
PMID: 39970913
Cell · 2025
1.00
2
COVID-19: angiotensin-converting enzyme 2 (ACE2) expression and tissue susceptibility to SARS-CoV-2 infection.
PMID: 33389262
Eur J Clin Microbiol Infect Dis · 2021
0.90
3
Receptor and viral determinants of SARS-coronavirus adaptation to human ACE2.
PMID: 15791205
EMBO J · 2005
0.82
4
ACE2 in chronic disease and COVID-19: gene regulation and post-translational modification.
PMID: 37608279
J Biomed Sci · 2023
0.80
5
Human ACE2 expression, a major tropism determinant for SARS-CoV-2, is regulated by upstream and intragenic elements.
PMID: 36812267
PLoS Pathog · 2023
0.80