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ANGPT2

Synonyms
AGPT2, ANG2, LMPHM10
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
2
Likely pathogenic
17
VUS
10,891
Likely benign
292
Benign
754

Patient phenotypes

Proportions of phenotypes among 19 patients carrying pathogenic or likely pathogenic variants on ANGPT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
47.4%
Abnormality of the musculoskeletal system
42.1%
Abnormality of head or neck
21.1%
Abnormality of the eye
21.1%
Growth abnormality
21.1%
Abnormality of the digestive system
15.8%
Abnormality of blood and blood-forming tissues
10.5%
Abnormality of the immune system
10.5%
Abnormality of the integument
10.5%
Abnormality of limbs
5.3%
Abnormality of the ear
5.3%
Abnormality of the endocrine system
5.3%
Abnormality of the genitourinary system
5.3%
Constitutional symptom
5.3%
Neoplasm
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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