PIK3C2B Chromosome 1

Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Phosphatidylinositol 3-kinase family
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000133056
Associated Conditions (1)
PIK3C2B-related disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS61758020 Health Risk Conflicting classifications of pathogenicity PIK3C2B-related disorder, PIK3C2B-related disorder
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