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Aliases for PIK3CA Gene

Aliases for PIK3CA Gene

  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase, Catalytic Subunit Alpha 2 3
  • Phosphoinositide-3-Kinase, Catalytic, Alpha Polypeptide 2 3
  • Serine/Threonine Protein Kinase PIK3CA 3 4
  • PtdIns-3-Kinase Subunit P110-Alpha 3 4
  • PI3K-Alpha 3 4
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit, Alpha Isoform 3
  • Phosphatidylinositol-4,5-Bisphosphate 3-Kinase 110 KDa Catalytic Subunit Alpha 3
  • Phosphatidylinositol 4,5-Bisphosphate 3-Kinase 110 KDa Catalytic Subunit Alpha 4
  • Phosphatidylinositol 3-Kinase, Catalytic, Alpha Polypeptide 3
  • Phosphatidylinositol 3-Kinase, Catalytic, 110-KD, Alpha 3
  • Phosphoinositide-3-Kinase Catalytic Alpha Polypeptide 4
  • PI3-Kinase P110 Subunit Alpha 3
  • PtdIns-3-Kinase Subunit Alpha 4
  • PI3-Kinase Subunit Alpha 4
  • EC 2.7.1.153 4
  • EC 2.7.11.1 4
  • P110-Alpha 3
  • PI3Kalpha 4
  • P110alpha 4
  • EC 2.7.1 63
  • CLOVE 3
  • MCMTC 3
  • MCAP 3
  • PI3K 3
  • CWS5 3
  • MCM 3

External Ids for PIK3CA Gene

Previous GeneCards Identifiers for PIK3CA Gene

  • GC03P175570
  • GC03P179758
  • GC03P180318
  • GC03P180237
  • GC03P180399
  • GC03P180349
  • GC03P178865
  • GC03P176269

Summaries for PIK3CA Gene

Entrez Gene Summary for PIK3CA Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIK3CA Gene

PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase, Catalytic Subunit Alpha) is a Protein Coding gene. Diseases associated with PIK3CA include colorectal cancer and actinic keratosis. Among its related pathways are PI3K-Akt signaling pathway and PI3K/AKT Signaling in Cancer. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is PIK3CB.

UniProtKB/Swiss-Prot for PIK3CA Gene

  • Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to various growth factors. Involved in the activation of AKT1 upon stimulation by receptor tyrosine kinases ligands such as EGF, insulin, IGF1, VEGFA and PDGF. Involved in signaling via insulin-receptor substrate (IRS) proteins. Essential in endothelial cell migration during vascular development through VEGFA signaling, possibly by regulating RhoA activity. Required for lymphatic vasculature development, possibly by binding to RAS and by activation by EGF and FGF2, but not by PDGF. Regulates invadopodia formation in breast cancer cells through the PDPK1-AKT1 pathway. Participates in cardiomyogenesis in embryonic stem cells through a AKT1 pathway. Participates in vasculogenesis in embryonic stem cells through PDK1 and protein kinase C pathway. Has also serine-protein kinase activity: phosphorylates PIK3R1 (p85alpha regulatory subunit), EIF4EBP1 and HRAS.

Tocris Summary for PIK3CA Gene

  • PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.

Gene Wiki entry for PIK3CA Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3CA Gene

Genomics for PIK3CA Gene

Regulatory Elements for PIK3CA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PIK3CA Gene

Chromosome:
3
Start:
179,148,114 bp from pter
End:
179,240,093 bp from pter
Size:
91,980 bases
Orientation:
Plus strand

Genomic View for PIK3CA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIK3CA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3CA Gene

Proteins for PIK3CA Gene

  • Protein details for PIK3CA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42336-PK3CA_HUMAN
    Recommended name:
    Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
    Protein Accession:
    P42336
    Secondary Accessions:
    • Q14CW1
    • Q99762

    Protein attributes for PIK3CA Gene

    Size:
    1068 amino acids
    Molecular mass:
    124284 Da
    Quaternary structure:
    • Heterodimer of a catalytic subunit PIK3CA and a p85 regulatory subunit (PIK3R1, PIK3R2 or PIK3R3). Interacts with IRS1 in nuclear extracts. Interacts with RUFY3 (By similarity). Interacts with RASD2 (By similarity). Interacts with APPL1. Interacts with HRAS and KRAS (By similarity). Interaction with HRAS/KRAS is required for PI3K pathway signaling and cell proliferation stimulated by EGF and FGF2 (By similarity).
    Miscellaneous:
    • The avian sarcoma virus 16 genome encodes an oncogene derived from PIK3CA.

    Three dimensional structures from OCA and Proteopedia for PIK3CA Gene

neXtProt entry for PIK3CA Gene

Proteomics data for PIK3CA Gene at MOPED

Selected DME Specific Peptides for PIK3CA Gene

Post-translational modifications for PIK3CA Gene

  • Ubiquitination at Lys 100
  • Modification sites at PhosphoSitePlus

Other Protein References for PIK3CA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PIK3CA (PIK3CA)

Domains & Families for PIK3CA Gene

Graphical View of Domain Structure for InterPro Entry

P42336

UniProtKB/Swiss-Prot:

PK3CA_HUMAN :
  • The PI3K-ABD domain and the PI3K-RBD domain interact with the PI3K/PI4K kinase domain. The C2 PI3K-type domain may facilitate the recruitment to the plasma membrane. The inhibitory interactions with PIK3R1 are mediated by the PI3K-ABD domain and the C2 PI3K-type domain with the iSH2 (inter-SH2) region of PIK3R1, and the C2 PI3K-type domain, the PI3K helical domain, and the PI3K/PI4K kinase domain with the nSH2 (N-terminal SH2) region of PIK3R1.
  • Belongs to the PI3/PI4-kinase family.
Domain:
  • The PI3K-ABD domain and the PI3K-RBD domain interact with the PI3K/PI4K kinase domain. The C2 PI3K-type domain may facilitate the recruitment to the plasma membrane. The inhibitory interactions with PIK3R1 are mediated by the PI3K-ABD domain and the C2 PI3K-type domain with the iSH2 (inter-SH2) region of PIK3R1, and the C2 PI3K-type domain, the PI3K helical domain, and the PI3K/PI4K kinase domain with the nSH2 (N-terminal SH2) region of PIK3R1.
  • Contains 1 C2 PI3K-type domain.
  • Contains 1 PI3K-ABD domain.
  • Contains 1 PI3K-RBD domain.
  • Contains 1 PI3K/PI4K domain.
  • Contains 1 PIK helical domain.
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with PIK3CA: view

Function for PIK3CA Gene

Molecular function for PIK3CA Gene

GENATLAS Biochemistry:
phosphatidylinositol-3-kinase,catalytic,class 1,alpha subunit,widely expressed, activated by growth factors,through binding p785 adaptor proteins (PIK3R1,PIK3R2,PIK3R3),activating Akts in the antiapoptotic PIK3 pathway,antagonized by PTEN,mediating angiogenes is and expression of VEGF in endothelial cells,involved in the regulation of cellular processes,potentially oncogenic in ovarian cancer
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot Function:
Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to various growth factors. Involved in the activation of AKT1 upon stimulation by receptor tyrosine kinases ligands such as EGF, insulin, IGF1, VEGFA and PDGF. Involved in signaling via insulin-receptor substrate (IRS) proteins. Essential in endothelial cell migration during vascular development through VEGFA signaling, possibly by regulating RhoA activity. Required for lymphatic vasculature development, possibly by binding to RAS and by activation by EGF and FGF2, but not by PDGF. Regulates invadopodia formation in breast cancer cells through the PDPK1-AKT1 pathway. Participates in cardiomyogenesis in embryonic stem cells through a AKT1 pathway. Participates in vasculogenesis in embryonic stem cells through PDK1 and protein kinase C pathway. Has also serine-protein kinase activity: phosphorylates PIK3R1 (p85alpha regulatory subunit), EIF4EBP1 and HRAS.

Enzyme Numbers (IUBMB) for PIK3CA Gene

Gene Ontology (GO) - Molecular Function for PIK3CA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005488 binding --
GO:0005515 protein binding IPI 10490823
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity TAS --
genes like me logo Genes that share ontologies with PIK3CA: view
genes like me logo Genes that share phenotypes with PIK3CA: view

Animal Models for PIK3CA Gene

MGI Knock Outs for PIK3CA:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIK3CA

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PIK3CA Gene

Localization for PIK3CA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIK3CA Gene COMPARTMENTS Subcellular localization image for PIK3CA gene
Compartment Confidence
cytosol 4
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
extracellular 2
lysosome 2
mitochondrion 2
nucleus 2
vacuole 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIK3CA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA --
GO:0005942 phosphatidylinositol 3-kinase complex ISS --
GO:0005943 phosphatidylinositol 3-kinase complex, class IA IDA 22402981
genes like me logo Genes that share ontologies with PIK3CA: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PIK3CA Gene

Pathways & Interactions for PIK3CA Gene

SuperPathways for PIK3CA Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 PI3K/AKT Signaling in Cancer
3 Translation Insulin regulation of translation
4 Development HGF signaling pathway
5 Immune response IL-23 signaling pathway
genes like me logo Genes that share pathways with PIK3CA: view

PCR Array Products

SIGNOR curated interactions for PIK3CA Gene

Gene Ontology (GO) - Biological Process for PIK3CA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001889 liver development IEA --
GO:0001944 vasculature development TAS 19200708
GO:0002250 adaptive immune response IBA --
GO:0006006 glucose metabolic process IEA --
genes like me logo Genes that share ontologies with PIK3CA: view

Drugs & Compounds for PIK3CA Gene

(122) Drugs for PIK3CA Gene - From: ApexBio, DGIdb, NovoSeek, ClinicalTrials, HMDB, DrugBank, Tocris, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Everolimus Approved Pharma inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1742
Paclitaxel Approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2505
Caffeine Approved Nutra Activator, Target 317
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1792
Aspirin Approved Pharma Channel blocker 971

(423) Additional Compounds for PIK3CA Gene - From: HMDB, NovoSeek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1w7)
genes like me logo Genes that share compounds with PIK3CA: view

Drug Products

Transcripts for PIK3CA Gene

Unigene Clusters for PIK3CA Gene

Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIK3CA

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3CA Gene

No ASD Table

Relevant External Links for PIK3CA Gene

GeneLoc Exon Structure for
PIK3CA
ECgene alternative splicing isoforms for
PIK3CA

Expression for PIK3CA Gene

mRNA expression in normal human tissues for PIK3CA Gene

Protein differential expression in normal tissues from HIPED for PIK3CA Gene

This gene is overexpressed in Plasma (30.0) and Peripheral blood mononuclear cells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIK3CA Gene



SOURCE GeneReport for Unigene cluster for PIK3CA Gene Hs.553498

genes like me logo Genes that share expression patterns with PIK3CA: view

Protein tissue co-expression partners for PIK3CA Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIK3CA Gene

Orthologs for PIK3CA Gene

This gene was present in the common ancestor of animals.

Orthologs for PIK3CA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIK3CA 35
  • 96.35 (n)
  • 99.81 (a)
PIK3CA 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3CA 35
  • 96.13 (n)
  • 99.81 (a)
PIK3CA 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pik3ca 35
  • 89.64 (n)
  • 98.69 (a)
Pik3ca 16
Pik3ca 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIK3CA 35
  • 99.94 (n)
  • 100 (a)
PIK3CA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3ca 35
  • 89.45 (n)
  • 98.78 (a)
oppossum
(Monodelphis domestica)
Mammalia PIK3CA 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3CA 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3CA 35
  • 85.3 (n)
  • 96.25 (a)
PIK3CA 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIK3CA 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3ca 35
  • 79.04 (n)
  • 91.73 (a)
African clawed frog
(Xenopus laevis)
Amphibia pik3ca-A 35
zebrafish
(Danio rerio)
Actinopterygii LOC561737 35
  • 76.25 (n)
  • 91.76 (a)
PIK3CA (1 of 3) 36
  • 82 (a)
OneToMany
PIK3CA (2 of 3) 36
  • 92 (a)
OneToMany
PIK3CA (3 of 3) 36
  • 91 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Pi3K92E 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea age-1 35
  • 47.81 (n)
  • 34.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToOne
Species with no ortholog for PIK3CA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIK3CA Gene

ENSEMBL:
Gene Tree for PIK3CA (if available)
TreeFam:
Gene Tree for PIK3CA (if available)

Paralogs for PIK3CA Gene

Paralogs for PIK3CA Gene

(5) SIMAP similar genes for PIK3CA Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for PIK3CA Gene

genes like me logo Genes that share paralogs with PIK3CA: view

Variants for PIK3CA Gene

Sequence variations from dbSNP and Humsavar for PIK3CA Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs870995 -- 179,195,218(+) GAAAT(A/C)TAACT intron-variant
rs950486 -- 179,218,696(+) CTTAC(A/G)TTTCT intron-variant
rs1048931 -- 179,236,995(+) TTTTA(C/T)TGGGC utr-variant-3-prime
rs1051397 -- 179,198,835(+) CTCCA(A/C)GACCA synonymous-codon, reference
rs1051398 -- 179,198,891(+) CTAGT(A/G)GAATG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PIK3CA Gene

Variant ID Type Subtype PubMed ID
nsv461026 CNV Gain 19166990
nsv878037 CNV Loss 21882294
nsv822351 CNV Loss 20364138
esv2659099 CNV Deletion 23128226
esv2726256 CNV Deletion 23290073
esv275373 CNV Gain+Loss 21479260
nsv524471 CNV Loss 19592680
esv1007496 CNV Loss 20482838
dgv842n67 CNV Gain 20364138
nsv819800 CNV Gain 19587683
dgv5352n71 CNV Loss 21882294
nsv829806 CNV Gain 17160897

Variation tolerance for PIK3CA Gene

Residual Variation Intolerance Score: 8.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.25; 62.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIK3CA Gene

HapMap Linkage Disequilibrium report
PIK3CA
Human Gene Mutation Database (HGMD)
PIK3CA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3CA Gene

Disorders for PIK3CA Gene

MalaCards: The human disease database

(87) MalaCards diseases for PIK3CA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • colorectal cancer, somatic
actinic keratosis
  • senile hyperkeratosis
hepatocellular fibrolamellar carcinoma
  • hepatocellular carcinoma, fibrolamellar
hemimegalencephaly
  • macrencephaly
leukoencephalopathy, cerebral calcifications, and cysts
  • lcc
- elite association

UniProtKB/Swiss-Prot

PK3CA_HUMAN
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:16353168}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918]: A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth. {ECO:0000269 PubMed:22658544}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cowden syndrome 5 (CWS5) [MIM:615108]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. {ECO:0000269 PubMed:23246288}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. {ECO:0000269 PubMed:15608678}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Keratosis, seborrheic (KERSEB) [MIM:182000]: A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance. {ECO:0000269 PubMed:17673550}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]: A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria. {ECO:0000269 PubMed:22729224}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=PIK3CA mutations are involved in various type of cancer. Most of the cancer-associated mutations are missense mutations and map to one of the three hotspots: Glu-542; Glu-545 and His-1047. Mutated isoforms participate in cellular transformation and tumorigenesis induced by oncogenic receptor tyrosine kinases (RTKs) and HRAS/KRAS. Interaction with HRAS/KRAS is required for Ras-driven tumor formation. Mutations increasing the lipid kinase activity are required for oncogenic signaling. The protein kinase activity may not be required for tumorigenesis.
  • Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PIK3CA

Genetic Association Database (GAD)
PIK3CA
Human Genome Epidemiology (HuGE) Navigator
PIK3CA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3CA
genes like me logo Genes that share disorders with PIK3CA: view

No data available for Genatlas for PIK3CA Gene

Publications for PIK3CA Gene

  1. Inhibitors of the PI3K/Akt/mTOR pathway: new hope for breast cancer patients. (PMID: 19751211) Ghayad S.E. … Cohen P.A. (Recent Pat Anticancer Drug Discov 2010) 23 67
  2. A gastrin precursor, gastrin-gly, upregulates VEGF expression in colonic epithelial cells through an HIF-1-independent mechanism. (PMID: 19876923) Bertrand C. … Seva C. (Int. J. Cancer 2010) 23 67
  3. Hot-spot mutations in p110alpha of phosphatidylinositol 3-kinase (pI3K): differential interactions with the regulatory subunit p85 and with RAS. (PMID: 20009532) Zhao L. … Vogt P.K. (Cell Cycle 2010) 23 67
  4. Cyclic mechanical stretch decreases cell migration by inhibiting phosphatidylinositol 3-kinase- and focal adhesion kinase-mediated JNK1 activation. (PMID: 20018857) Desai L.P. … Waters C.M. (J. Biol. Chem. 2010) 23 67
  5. Naphtho[1,2-b]furan-4,5-dione inactivates EGFR and PI3K/Akt signaling pathways in human lung adenocarcinoma A549 cells. (PMID: 20036260) Su J.C. … Lin S.R. (Life Sci. 2010) 23 67

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