Phosphatidylinositol 3-Kinase, Catalytic, Alpha

Alternative Names

  • PIK3CA
  • Phosphatidylinositol 3-Kinase, Catalytic, 110-KD, Alpha
  • p110-Alpha
  • PI3K-Alpha
  • PIK3-Alpha
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OMIM Number

171834

NCBI Gene ID

5290

Uniprot ID

P42336

Length

91,980 bases

No. of Exons

23

No. of isoforms

1

Protein Name

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform

Molecular Mass

124284 Da

Amino Acid Count

1068

Genomic Location

chr3:179,148,113-179,240,092

Gene Map Locus
3q26.32

Description

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [From RefSeq]

Molecular Genetics

The PIK3CA gene is located on the long arm of chromosome 3. PIK3CA spans nearly 92-Kb and encodes for the 110 kDa catalytic subunit of phosphatidylinositol 3-kinase.

Many mutations were uncovered in the PIK3CA gene with a myriad of clinical consequences. A number of these mutations are involved in cancers. For instance, His1047Arg and Glu545Lys are two common mutations in colorectal cancer. It is important to remember that these mutations are somatic and, hence, they are confined to tumor cells. Other conditions that are associated with PIK3CA mutations include hemimegalencephaly; fibroadipose hyperplasia; and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal or spinal abnormalities (CLOVES) syndrome. The list of mutations underlying these conditions includes missense and indel mutations.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006218.3:c.2740G>AUnited Arab EmiratesNC_000003.12:g.179230077G>APathogenicLikely PathogenicCongenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal NeviNG_012113.2:g.86555G>A; NM_006218.3:c.2740G>A; NP_006209.2:p.Gly914Arg58777693239703

Other Reports

Arab

Al-Shamsi et al. 2021 delineated the somatic mutational spectrum and frequency in Arab women with breast cancer. 78 women mostly with stage 3 or 4 breast cancer exhibited mutations and mutation rates in the following genes: TP53, 23.1%; ATM, 2.6%; IDH1, 2.6%; IDH2, 3.8%; PTEN, 7.7%; PIK3CA, 15.4%; APC, 7.7%; NPM1, 2.5%; MPL, 1.3%; JAK2, 2.5%; KIT, 7.7%; KRAS, 3.8%; and NRAS, 3.8%

Jordan

Ismail et al. (2010) investigated the possible oncogenic role of PI3K/AKT pathway in multiple myeloma and sequenced three hot exons: exons 9 and 20 of PIK3CA gene and exon 3 of AKT1 gene in 27 multiple myeloma patients. No mutations were recorded in the four hot spots analyzed (E542K, E545K, H1047R and E17K). These findings were indicative that PI3K/AKT mutations may not play a major role in multiple myeloma.

Saudi Arabia

A study by Abubaker et al. (2008) assessed PIK3CA mutational status in a series of 410 Middle Eastern colorectal cancer (CRC) patients in Saudi Arabia. The study detected PIK3CA mutations in 12% of the CRC cohort. This highlighted the high prevalence of genetic alterations in PI3K/AKT pathway in the group of patients with CRC. Moreover, there was a strong association between PIK3CA mutations and microsatellite instability (P=0.0046). These findings indicate possible involvement of PIK3CA mutations in the development/progression of microsatellite instable colorectal cancer.

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