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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

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
228
Likely pathogenic
1
VUS
3,684
Likely benign
1,542
Benign
2,465

Patient phenotypes

Proportions of phenotypes among 132 patients carrying pathogenic or likely pathogenic variants on PIK3R2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.6%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
32.6%
Abnormality of head or neck
27.3%
Abnormality of limbs
16.7%
Growth abnormality
15.2%
Abnormality of the integument
14.4%
Abnormality of the ear
13.6%
Abnormality of the cardiovascular system
12.9%
Abnormality of the digestive system
11.4%
Abnormality of the genitourinary system
9.8%
Abnormality of the immune system
8.3%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the respiratory system
3.8%
Neoplasm
3.8%
Abnormality of prenatal development or birth
3%
Abnormality of the endocrine system
3%
Abnormality of the breast
1.5%
Abnormality of the voice
1.5%
Constitutional symptom
0.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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