Gene Detail

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Gene Symbol PIK3CA
Synonyms CCM4 | CLAPO | CLOVE | CWS5 | HMH | MCAP | MCM | MCMTC | p110-alpha | PI3K | PI3K-alpha
Gene Description PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha, activates PI3K/AKT/mTOR signaling to promote cell proliferation (PMID: 23411347, PMID: 31905960). PIK3CA activating mutations have been identified in a number of tumor types such as breast cancer (PMID: 32234362, PMID: 32404150), colon cancer (PMID: 32099598), endometrial cancer, glioblastoma, skin cancer, ovarian cancer (PMID: 20535651, PMID: 31892193), and mammary angiosarcoma (PMID: 32123305), and PIK3CA amplification has been observed in esophageal adenocarcinoma (PMID: 31865178).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
5290 3 3q26.32 NM_006218 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function PIK3CA act mut indicates that this variant results in a gain of function in the Pik3ca protein. However, the specific amino acid change has not been identified.
E542X missense unknown PIK3CA E542X indicates any Pik3ca missense mutation that results in the replacement of the glutamic acid (E) at amino acid 542 by a different amino acid.
E545X missense unknown PIK3CA E545X indicates any Pik3ca missense mutation that results in the replacement of the glutamic acid (E) at amino acid 545 by a different amino acid. PIK3CA E545X mutations are hotspot mutations that may result in increased Pik3ca kinase activity (PMID: 15930273).
exon10 unknown unknown PIK3CA exon 10 indicates an unspecified mutation has occurred in exon 10 (corresponding to amino acids 514 to 555) of the PIK3CA gene. PIK3CA exon 10 is sometimes reported as exon 9, when only coding exons are considered in numbering.
exon20 unknown unknown PIK3CA exon 20 indicates an unspecified mutation has occurred in exon 20 (corresponding to amino acids 929 to 979) of the PIK3CA gene. PIK3CA exon 21 (corresponding to amino acids 979 to 1068) is sometimes reported as exon 20, when only coding exons are considered in numbering.
exon21 unknown unknown PIK3CA exon 21 indicates an unspecified mutation has occurred in exon 21 (corresponding to amino acids 979 to 1068) of the PIK3CA gene. PIK3CA exon 21 is sometimes reported as exon 20, when only coding exons are considered in numbering.
exon5 unknown unknown PIK3CA exon 5 indicates an unspecified mutation has occurred in exon 5 (corresponding to amino acids 272 to 353) of the PIK3CA gene. PIK3CA exon 5 is sometimes reported as exon 4, when only coding exons are considered in numbering.
exon8 unknown unknown PIK3CA exon 8 indicates an unspecified mutation has occurred in exon 8 (corresponding to amino acids 418 to 468) of the PIK3CA gene. PIK3CA exon 8 is sometimes reported as exon 7, when only coding exons are considered in numbering.
exon9 unknown unknown PIK3CA exon 9 indicates an unspecified mutation has occurred in exon 9 (corresponding to amino acids 469 to 513) of the PIK3CA gene. PIK3CA exon 10 (corresponding to amino acids 514 to 555) is sometimes reported as exon 9, when only coding exons are considered in numbering.
H1047X missense unknown PIK3CA H1047X indicates any Pik3ca missense mutation that results in the replacement of the histidine (H) at amino acid 1047 by a different amino acid. PIK3CA H1047X mutations are hotspot mutations that may result in increased Pik3ca kinase activity and cell transformation in culture (PMID: 15930273).
inact mut unknown loss of function PIK3CA inact mut indicates that this variant results in a loss of function of the Pik3ca protein. However, the specific amino acid change has not been identified.
mutant unknown unknown PIK3CA mutant indicates an unspecified mutation within the PIK3CA gene.
Q546X missense unknown PIK3CA Q546X indicates any PIK3CA missense mutation that results in replacement of the glutamine (Q) at amino acid 546 by a different amino acid.