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PIK3R2

Synonyms
MPPH, MPPH1, P85B, p85, p85-BETA
External resources
Summary
Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
160
Likely pathogenic
0
VUS
2,465
Likely benign
2,751
Benign
2,122

Patient phenotypes

Proportions of phenotypes among 91 patients carring pathogenic or likely pathogenic variants on PIK3R2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
42.9%
Abnormality of the nervous system
38.5%
Abnormality of the musculoskeletal system
37.4%
Abnormality of head or neck
30.8%
Growth abnormality
19.8%
Abnormality of limbs
18.7%
Abnormality of the integument
17.6%
Abnormality of the digestive system
15.4%
Abnormality of the ear
12.1%
Abnormality of the cardiovascular system
11%
Abnormality of the genitourinary system
11%
Abnormality of the immune system
8.8%
Abnormality of the respiratory system
4.4%
Abnormality of blood and blood-forming tissues
3.3%
Abnormality of prenatal development or birth
3.3%
Neoplasm
3.3%
Abnormality of the breast
2.2%
Abnormality of the endocrine system
2.2%
Abnormality of the voice
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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