PIK3CG Chromosome 7
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
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What This Gene Does
Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]
Gene Info
Gene Group
Phosphatidylinositol 3-kinase family
Locus Type
gene with protein product
Location
7q22.3
Ensembl
ENSG00000105851
Associated Conditions (1)
Immunodeficiency 97 with autoinflammation
Key Variants
RS2116619574
Pathogenic
Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation
Health Risk
RS376453517
Pathogenic
Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation
Health Risk
RS774060880
Pathogenic
Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2116619574 | Health Risk | Pathogenic | Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation |
| RS376453517 | Health Risk | Pathogenic | Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation |
| RS774060880 | Health Risk | Pathogenic | Immunodeficiency 97 with autoinflammation, Immunodeficiency 97 with autoinflammation |