Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

PIK3CA

contributors: mct/npt/pgu - updated : 06-07-2015

HGNC name	phosphoinositide-3-kinase, catalytic, alpha polypeptide
HGNC id	8975

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CLOVES , MCAP , CWS5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in head and necks squamous cell carcinomas tumoral       gain of function in colorectal cancer and glioblastoma tumoral somatic mutation       in anaplastic oligodendrogliomas, in anaplastic astrocytomas, glioblastoma multiforme, and medulloblastomas tumoral somatic mutation       in breast carcinomas and hepatocellular carcinomas, modulate PI3K signalling to influence tumour behaviour and occur in up to 40p100 of breast cancers tumoral somatic mutation       in colorectal and gastric carcinomas tumoral   amplification     in thyroid carcinoma, relatively common and may be a novel mechanism in activating the PI3K/Akt pathway in some thyroid tumors tumoral somatic mutation       in epidermal nevi (EN) in seborrheic keratoses (SK)in association to mutations in FGFR3 tumoral somatic mutation       are likely to occur late in the development of oral squamous cell carcinoma, and play a crucial role through the PI3K-AKT signaling pathway in cancer progression tumoral       gain of function in diffuse large B cell lymphoma constitutional somatic mutation       somatic mosaicism for postzygotic activating mutations in the PIK3CA gene constitutional somatic mutation     gain of function in Cowden and Cowden-like syndrome constitutional somatic mutation     gain of function in isolated congenital macrodactyly is caused by somatic activation of the PI3K/AKT cell-signaling pathway and is genetically and biochemically related to other overgrowth syndromes constitutional       gain of function of PIK3CA/AKT1/MTOR axis in individuals with Down syndrome, with and without AD pathology, in comparison with respective controls constitutional somatic mutation       cause 54p100 of venous malformation

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer brain   therapeutic target in anaplastic oligodendrogliomas, in anaplastic astrocytomas, glioblastoma multiforme, and medulloblastomas osteoarticular bone   therapeutic agents that target this enzyme have the potential to significantly affect bone homeostasis cancer thyroid   targeting in the treatment of anaplastic thyroid carcinomas tumor vascular   inhibitors of PIK3Ca might have therapeutic applications for individuals with CLOVES syndrome or other overgrowth anomalies that are also the result of somatic activating mutations in PIK3CA cancer     targeting the interaction of RAS with PIK3CA has the potential to impair tumor formation by altering the tumor-host relationship, in addition to previously described tumor cell-autonomous effects

ANIMAL & CELL MODELS