ACE2 (Angiotensin-converting enzyme 2) variants and mutations

ACE2 (also known as Angiotensin-converting enzyme 2) is a human protein-coding gene encoding an angiotensin-converting enzyme 2 protein. By converting angiotensin II to angiotensin-(1-7), it counterbalances vasoconstrictive and pro-inflammatory signaling within the renin-angiotensin system. It also serves as the cellular entry receptor for SARS-CoV-2, making its tissue expression important in coronavirus biology. This analysis covers 907 ACE2 variants and mutations. Of these, 64% have computational variant effect predictions. Disease context includes COVID-19, severe acute respiratory syndrome, and neurodegenerative disease. Example ACE2 variants include S2P, S3N, and L8F.

Variant analysis overview

Gene: ACE2
Protein: Angiotensin-converting enzyme 2
UniProt accession: Q9BYF1
Organism: Homo sapiens
Variants analyzed: 907
Variant scope: all variants
Completed: 2026-08-22

Variant and mutation evidence

Variant composition: 705 unspecified-consequence records; 1 stop retained variant; 2 stop lost; 101 missense variants; 9 frameshift variants; 76 synonymous variants; 3 splice-region variants; 1 in-frame insertions; 7 stop-gained variants; 2 in-frame deletions; 4 substitution
Prediction scores: 584 variants have prediction scores (64% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: COVID-19, severe acute respiratory syndrome, neurodegenerative disease, Alzheimer disease, Parkinson disease, multiple sclerosis, lysosomal storage disease, autoimmune disorder of central nervous system, idiopathic pulmonary fibrosis, lung carcinoma, lung cancer, pulmonary arterial hypertension.

Protein structure and variant hotspots

Protein features: 1 transmembrane segments; 2 domains; 9 binding sites; 9 post-translational modification sites.
Structural context: 885 variants have structural context.
PTM context: 11 variants overlap post-translational modification sites.
Experimental data: 117 protein positions have experimental scores. Source: binding assays.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ACE2 variants

Examples include S2P, S3N, L8F, L9P, S10I, A13S, A13V, A17S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ACE2 analysis run — ACE2 (907 variants) — completed 2026-08-22