• Gene id: 5286

Gene Summary

• Gene Symbol: PIK3C2A   Gene   UCSC   Ensembl
• Aliases: CPK, OCSKD, PI3-K-C2(ALPHA), PI3-K-C2A, PI3K-C2-alpha, PI3K-C2alpha
• Gene name: phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
• Alternate names: phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha, C2-containing phosphatidylinositol kinase, phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha, phosphoinositide 3-kinase-C2-alpha, phosphoinositide-3-kinas,
• Gene location: 11p15.1 (17207985: 17086574)     Exons: 35     NC_000011.10
• Gene summary(Entrez): 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 traffi
• OMIM: 603601

Protein Summary

• Protein general information: O00443  
  • Name: Phosphatidylinositol 4 phosphate 3 kinase C2 domain containing subunit alpha (PI3K C2 alpha) (PtdIns 3 kinase C2 subunit alpha) (EC 2.7.1.154) (Phosphoinositide 3 kinase C2 alpha)
  • Length: 1686  
  • Mass: 190680
  • Tissue specificity: Expressed in columnar and transitional epithelia, mononuclear cells, smooth muscle cells, and endothelial cells lining capillaries and small venules (at protein level). Ubiquitously expressed, with highest levels in heart, placenta and
• Sequence:

  MAQISSNSGFKECPSSHPEPTRAKDVDKEEALQMEAEALAKLQKDRQVTDNQRGFELSSSTRKKAQVYNKQDYDL
  MVFPESDSQKRALDIDVEKLTQAELEKLLLDDSFETKKTPVLPVTPILSPSFSAQLYFRPTIQRGQWPPGLPGPS
  TYALPSIYPSTYSKQAAFQNGFNPRMPTFPSTEPIYLSLPGQSPYFSYPLTPATPFHPQGSLPIYRPVVSTDMAK
  LFDKIASTSEFLKNGKARTDLEITDSKVSNLQVSPKSEDISKFDWLDLDPLSKPKVDNVEVLDHEEEKNVSSLLA
  KDPWDAVLLEERSTANCHLERKVNGKSLSVATVTRSQSLNIRTTQLAKAQGHISQKDPNGTSSLPTGSSLLQEVE
  VQNEEMAAFCRSITKLKTKFPYTNHRTNPGYLLSPVTAQRNICGENASVKVSIDIEGFQLPVTFTCDVSSTVEII
  IMQALCWVHDDLNQVDVGSYVLKVCGQEEVLQNNHCLGSHEHIQNCRKWDTEIRLQLLTFSAMCQNLARTAEDDE
  TPVDLNKHLYQIEKPCKEAMTRHPVEELLDSYHNQVELALQIENQHRAVDQVIKAVRKICSALDGVETLAITESV
  KKLKRAVNLPRSKTADVTSLFGGEDTSRSSTRGSLNPENPVQVSINQLTAAIYDLLRLHANSGRSPTDCAQSSKS
  VKEAWTTTEQLQFTIFAAHGISSNWVSNYEKYYLICSLSHNGKDLFKPIQSKKVGTYKNFFYLIKWDELIIFPIQ
  ISQLPLESVLHLTLFGILNQSSGSSPDSNKQRKGPEALGKVSLPLFDFKRFLTCGTKLLYLWTSSHTNSVPGTVT
  KKGYVMERIVLQVDFPSPAFDIIYTTPQVDRSIIQQHNLETLENDIKGKLLDILHKDSSLGLSKEDKAFLWEKRY
  YCFKHPNCLPKILASAPNWKWVNLAKTYSLLHQWPALYPLIALELLDSKFADQEVRSLAVTWIEAISDDELTDLL
  PQFVQALKYEIYLNSSLVQFLLSRALGNIQIAHNLYWLLKDALHDVQFSTRYEHVLGALLSVGGKRLREELLKQT
  KLVQLLGGVAEKVRQASGSARQVVLQRSMERVQSFFQKNKCRLPLKPSLVAKELNIKSCSFFSSNAVPLKVTMVN
  ADPMGEEINVMFKVGEDLRQDMLALQMIKIMDKIWLKEGLDLRMVIFKCLSTGRDRGMVELVPASDTLRKIQVEY
  GVTGSFKDKPLAEWLRKYNPSEEEYEKASENFIYSCAGCCVATYVLGICDRHNDNIMLRSTGHMFHIDFGKFLGH
  AQMFGSFKRDRAPFVLTSDMAYVINGGEKPTIRFQLFVDLCCQAYNLIRKQTNLFLNLLSLMIPSGLPELTSIQD
  LKYVRDALQPQTTDAEATIFFTRLIESSLGSIATKFNFFIHNLAQLRFSGLPSNDEPILSFSPKTYSFRQDGRIK
  EVSVFTYHKKYNPDKHYIYVVRILREGQIEPSFVFRTFDEFQELHNKLSIIFPLWKLPGFPNRMVLGRTHIKDVA
  AKRKIELNSYLQSLMNASTDVAECDLVCTFFHPLLRDEKAEGIARSADAGSFSPTPGQIGGAVKLSISYRNGTLF
  IMVMHIKDLVTEDGADPNPYVKTYLLPDNHKTSKRKTKISRKTRNPTFNEMLVYSGYSKETLRQRELQLSVLSAE
  SLRENFFLGGVTLPLKDFNLSKETVKWYQLTAATYL

• Structural information:
  • Protein Domains: (421..50-)
    (/note="PI3K-RBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00879-)
    (682..84-)
    (/note="C2-PI3K-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041,-ECO:0000255|PROSITE-ProRule:PRU00880)
    (861..103-)
    (/note="PIK-helical";)
  • Interpro: IPR016024  IPR000008  IPR035892  IPR011009  IPR001683   IPR000403  IPR036940  IPR018936  IPR037705  IPR001263  IPR042236  IPR002420  IPR000341  IPR015433  IPR036871  IPR042133  IPR029071  
  • Prosite: PS50004 PS51547 PS00915 PS00916 PS50290 PS51546 PS51545 PS50195
  • CDD: cd05176 cd07289
  • PDB: 2AR5 2IWL 2REA 2RED 6BTY 6BTZ 6BU0 6BUB
  • PDBsum: 2AR5 2IWL 2REA 2RED 6BTY 6BTZ 6BU0 6BUB
  • DIP: 33727
  • STRING: ENSP00000265970
• Other Databases: GeneCards:  PIK3C2A  Malacards:  PIK3C2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010508	positive regulation of autophagy	IMP	biological process
GO:0005942	phosphatidylinositol 3-kinase complex	IBA	cellular component
GO:0014065	phosphatidylinositol 3-kinase signaling	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0052742	phosphatidylinositol kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0016303	1-phosphatidylinositol-3-kinase activity	IBA	molecular function
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA	molecular function
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IBA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0035004	phosphatidylinositol 3-kinase activity	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016303	1-phosphatidylinositol-3-kinase activity	TAS	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	IEA	molecular function
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031982	vesicle	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0035004	phosphatidylinositol 3-kinase activity	TAS	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0006897	endocytosis	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0016020	membrane	HDA	cellular component
GO:0048268	clathrin coat assembly	TAS	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	TAS	biological process
GO:0006887	exocytosis	TAS	biological process
GO:0014829	vascular smooth muscle contraction	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04070	Phosphatidylinositol signaling system
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:21127054
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)