PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Gene ID: 5290, updated on 10-Sep-2024
Gene type: protein coding
Also known as: HMH; MCM; CCM4; CWS5; MCAP; PI3K; CLAPO; CLOVE; MCMTC; PI3K-alpha; p110-alpha

Summary

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. [provided by RefSeq, Apr 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Cerebral cavernous malformation 4 MedGen: C5561991OMIM: 619538GeneReviews: Familial Cerebral Cavernous Malformation	See labs
CLAPO syndrome MedGen: C2751313OMIM: 613089GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
CLOVES syndrome MedGen: C2752042OMIM: 612918GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
Colorectal cancer MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome	See labs
Congenital macrodactylia MedGen: C0265552OMIM: 155500GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
Cowden syndrome 5 MedGen: C3554518OMIM: 615108GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
Epidermal nevus MedGen: C0334082OMIM: 162900GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	See labs
Gastric cancer MedGen: C0024623OMIM: 613659GeneReviews: Not available	See labs
Hepatocellular carcinoma MedGen: C2239176OMIM: 114550GeneReviews: Not available	See labs
Lung cancer MedGen: C0242379OMIM: 211980GeneReviews: Not available	See labs
Megalencephaly-capillary malformation-polymicrogyria syndrome MedGen: C1865285OMIM: 602501GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
Ovarian neoplasm MedGen: C0919267GeneReviews: Not available	See labs
Seborrheic keratosis MedGen: C0022603OMIM: 182000GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2015-03-12) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2015-03-12) ClinGen Genome Curation Page

Genomic context

Location:: 3q26.32

Sequence:: Chromosome: 3; NC_000003.12 (179148126..179240093)

Total number of exons:: 22

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PIK3CA variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PIK3CA database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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