PIK3C2A

Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing alpha polypeptide is an enzyme that in humans is encoded by the PIK3C2A gene.^[5][6]

PIK3C2A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AR5, 2IWL, 2REA, 2RED
Identifiers
Aliases	PIK3C2A, CPK, PI3-K-C2(ALPHA), PI3-K-C2A, PI3K-C2-alpha, PI3K-C2alpha, phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha, OCSKD
External IDs	OMIM: 603601; MGI: 1203729; HomoloGene: 20581; GeneCards: PIK3C2A; OMA:PIK3C2A - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.1 Start 17,077,730 bp[1] End 17,207,986 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 F1|7 61.62 cM Start 115,936,500 bp[2] End 116,042,684 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte jejunal mucosa superficial temporal artery retinal pigment epithelium caput epididymis visceral pleura corpus epididymis lower lobe of lung tail of epididymis Epithelium of choroid plexus Top expressed in endothelial cell of lymphatic vessel epithelium of lens vestibular sensory epithelium medullary collecting duct seminal vesicula Epithelium of choroid plexus iris tail of embryo vas deferens ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding 1-phosphatidylinositol-3-kinase activity 1-phosphatidylinositol-4-phosphate 3-kinase activity kinase activity phosphatidylinositol binding phosphatidylinositol 3-kinase activity ATP binding Cellular component cytoplasm vesicle cytosol phosphatidylinositol 3-kinase complex Golgi apparatus membrane plasma membrane extracellular exosome cytoplasmic vesicle clathrin-coated vesicle nucleus Biological process insulin receptor signaling pathway endocytosis epidermal growth factor receptor signaling pathway phosphorylation phosphatidylinositol phosphate biosynthetic process clathrin coat assembly phosphatidylinositol biosynthetic process platelet-derived growth factor receptor signaling pathway phosphatidylinositol-mediated signaling vascular associated smooth muscle contraction exocytosis phosphatidylinositol-3-phosphate biosynthetic process membrane organization phosphatidylinositol 3-kinase signaling cell migration positive regulation of cell migration involved in sprouting angiogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5286 18704 Ensembl ENSG00000011405 ENSMUSG00000030660 UniProt O00443 Q61194 RefSeq (mRNA) NM_002645 NM_001321378 NM_001321380 NM_001386870 NM_011083 RefSeq (protein) NP_001308307 NP_001308309 NP_002636 NP_035213 Location (UCSC) Chr 11: 17.08 – 17.21 Mb Chr 7: 115.94 – 116.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking.

This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of Class II PI 3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmannin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling.^[6]

Clinical significance

Three families have been reported with homozygous loss of function mutations in this gene.^[7] The clinical features of this syndrome include short stature, coarse facial features, cataracts with secondary glaucoma, multiple skeletal abnormalities and neurological manifestations. Abnormalities of cilial function were also noted.