ACE2

Chr X

angiotensin converting enzyme 2

Also known as: ACEH

NCBI Gene: 59272ENSG00000130234UniProt: Q9BYF1

This enzyme cleaves angiotensin peptides to regulate cardiovascular homeostasis and also traffics the neutral amino acid transporter SLC6A19 to intestinal epithelial cell membranes. Mutations cause X-linked intellectual disability, seizures, and failure to thrive, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants and shows X-linked inheritance.

ResearchSummary from RefSeq, UniProt
LOEUF 0.25
Clinical Summary— ACE2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
28 unique Pathogenic / Likely Pathogenic· 65 VUS of 300 total submissions
💊
Clinical Trials
3 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.25LOEUF
pLI 0.998
Z-score 4.66
OE 0.10 (0.04–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.25Z-score
OE missense 0.79 (0.71–0.88)
223 obs / 281.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.04–0.25)
0≤0.351.4
Missense OE0.79 (0.71–0.88)
0≤0.61.4
Synonymous OE0.83
0≤1.21.6
LoF obs/exp: 3 / 31.0Missense obs/exp: 223 / 281.8Syn Z: 1.33

ClinVar Variant Classifications

300 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
VUS65
Likely Benign8
28
Pathogenic
65
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
28
0
28
Likely Pathogenic
0
0
0
0
0
VUS
0
54
11
0
65
Likely Benign
0
3
1
4
8
Benign
0
0
0
0
0
Total057404101

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ACE2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients