ANGPT2

Chr 8

angiopoietin 2

Also known as: AGPT2, ANG2, LMPHM10

NCBI Gene: 285ENSG00000091879UniProt: O15123

This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLymphatic malformation 10

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
157
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.38
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.38LOEUF
pLI 0.832
Z-score 4.02
OE 0.18 (0.09–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.53Z-score
OE missense 1.09 (0.99–1.20)
298 obs / 273.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.18 (0.09–0.38)
0≤0.351.4
Missense OE?1.09 (0.99–1.20)
0≤0.61.4
Synonymous OE?1.27
0≤1.21.6
LoF obs/exp: 5 / 27.9Missense obs/exp: 298 / 273.5Syn Z: -2.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANGPT2 · protein map & ClinVar variants

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

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