PIK3C2A Chromosome 11
Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
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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 not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Phosphatidylinositol 3-kinase family
Locus Type
gene with protein product
Location
11p15.1
Ensembl
ENSG00000011405
Associated Conditions (4)
PIK3C2A-related disorder
Malignant tumor of urinary bladder
Oculocerebrodental syndrome
Short stature
Key Variants
RS139351396
Conflicting classifications of pathogenicity
PIK3C2A-related disorder, PIK3C2A-related disorder
Health Risk
RS140828463
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
Health Risk
RS190640695
Conflicting classifications of pathogenicity
PIK3C2A-related disorder, PIK3C2A-related disorder
Health Risk
RS372554169
Conflicting classifications of pathogenicity
Health Risk
RS775520383
Conflicting classifications of pathogenicity
Health Risk
RS1565287817
Likely pathogenic
Oculocerebrodental syndrome, Oculocerebrodental syndrome
Health Risk
RS1485348453
Pathogenic
Health Risk
RS1555020573
Pathogenic
Health Risk
RS1565272952
Pathogenic
Short stature, Oculocerebrodental syndrome, Short stature
Health Risk
RS1565288355
Pathogenic
Health Risk
RS200262506
Pathogenic
Health Risk
RS2494121508
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139351396 | Health Risk | Conflicting classifications of pathogenicity | PIK3C2A-related disorder, PIK3C2A-related disorder |
| RS140828463 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS190640695 | Health Risk | Conflicting classifications of pathogenicity | PIK3C2A-related disorder, PIK3C2A-related disorder |
| RS372554169 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775520383 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1565287817 | Health Risk | Likely pathogenic | Oculocerebrodental syndrome, Oculocerebrodental syndrome |
| RS1485348453 | Health Risk | Pathogenic | — |
| RS1555020573 | Health Risk | Pathogenic | — |
| RS1565272952 | Health Risk | Pathogenic | Short stature, Oculocerebrodental syndrome, Short stature |
| RS1565288355 | Health Risk | Pathogenic | — |
| RS200262506 | Health Risk | Pathogenic | — |
| RS2494121508 | Health Risk | Pathogenic | — |
| RS2494125336 | Health Risk | Pathogenic | — |
| RS2494271432 | Health Risk | Pathogenic | — |
| RS758670140 | Health Risk | Pathogenic | — |
| RS771880080 | Health Risk | Pathogenic | — |
| RS917390877 | Health Risk | Pathogenic | — |
| RS1848478518 | Health Risk | Pathogenic/Likely pathogenic | Oculocerebrodental syndrome, Oculocerebrodental syndrome |