Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5286
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIK3C2A
Synonyms (NCBI Gene) Gene synonyms aliases
CPK, OCSKD, PI3-K-C2(ALPHA), PI3-K-C2A, PI3K-C2-alpha, PI3K-C2alpha
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OCSKD
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1565272952 C>A Pathogenic Splice donor variant
rs1565287817 A>C Likely-pathogenic Coding sequence variant, non coding transcript variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017588 hsa-miR-335-5p Microarray 18185580
MIRT022518 hsa-miR-124-3p Microarray 18668037
MIRT030655 hsa-miR-22-3p Sequencing 20371350
MIRT030824 hsa-miR-21-5p Microarray 18591254
MIRT047215 hsa-miR-182-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005524 Function ATP binding IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 21081650
GO:0005802 Component Trans-Golgi network IDA 10766823, 11239472
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603601 8971 ENSG00000011405
Protein
UniProt ID O00443
Protein name Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha (PI3K-C2-alpha) (PtdIns-3-kinase C2 subunit alpha) (EC 2.7.1.137) (EC 2.7.1.153) (EC 2.7.1.154) (Phosphoinositide 3-kinase-C2-alpha)
Protein function Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion.
PDB 2AR5 , 2IWL , 2REA , 2RED , 6BTY , 6BTZ , 6BU0 , 6BUB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00794 PI3K_rbd 409 512 PI3-kinase family, ras-binding domain Domain
PF00792 PI3K_C2 703 843 Phosphoinositide 3-kinase C2 Domain
PF00613 PI3Ka 863 1046 Phosphoinositide 3-kinase family, accessory domain (PIK domain) Family
PF00454 PI3_PI4_kinase 1132 1347 Phosphatidylinositol 3- and 4-kinase Family
PF00787 PX 1451 1534 PX domain Domain
PF00168 C2 1572 1680 C2 domain Domain
Tissue specificity 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
MAQISSNSGFKECPSSHPEPTRAKDVDKEEALQMEAEALAKLQKDRQVTDNQRGFELSSS
TRKKAQVYNKQDYDLMVFPESDSQKRALDIDVEKLTQAELEKLLLDDSFETKKTPVLPVT
PILSPSFSAQLYFRPTIQRGQWPPGLPGPSTYALPSIYPSTYSKQAAFQNGFNPRMPTFP
STEPIYLSLPGQSPYFSYPLTPATPFHPQGSLPIYRPVVSTDMAKLFDKIASTSEFLKNG
KARTDLEITDSKVSNLQVSPKSEDISKFDWLDLDPLSKPKVDNVEVLDHEEEKNVSSLLA
KDPWDAVLLEERSTANCHLERKVNGKSLSVATVTRSQSLNIRTTQLAKAQGHISQKDPNG
TSSLPTGSSLLQEVEVQNEEMAAFCRSITKLKTKFPYTNHRTNPGYLLSPVTAQRNICGE
NASVKVSIDIEGFQLPVTFTCDVSSTVEIIIMQALCWVHDDLNQVDVGSYVLKVCGQEEV
LQNNHCLGSHEHIQNCRKWDTEIRLQLLTFSA
MCQNLARTAEDDETPVDLNKHLYQIEKP
CKEAMTRHPVEELLDSYHNQVELALQIENQHRAVDQVIKAVRKICSALDGVETLAITESV
KKLKRAVNLPRSKTADVTSLFGGEDTSRSSTRGSLNPENPVQVSINQLTAAIYDLLRLHA
NSGRSPTDCAQSSKSVKEAWTTTEQLQFTIFAAHGISSNWVSNYEKYYLICSLSHNGKDL
FKPIQSKKVGTYKNFFYLIKWDELIIFPIQISQLPLESVLHLTLFGILNQSSGSSPDSNK
QRKGPEALGKVSLPLFDFKRFLTCGTKLLYLWTSSHTNSVPGTVTKKGYVMERIVLQVDF
PSP
AFDIIYTTPQVDRSIIQQHNLETLENDIKGKLLDILHKDSSLGLSKEDKAFLWEKRY
YCFKHPNCLPKILASAPNWKWVNLAKTYSLLHQWPALYPLIALELLDSKFADQEVRSLAV
TWIEAISDDELTDLLPQFVQALKYEIYLNSSLVQFLLSRALGNIQIAHNLYWLLKDALHD
VQFSTRYEHVLGALLSVGGKRLREEL
LKQTKLVQLLGGVAEKVRQASGSARQVVLQRSME
RVQSFFQKNKCRLPLKPSLVAKELNIKSCSFFSSNAVPLKVTMVNADPMGEEINVMFKVG
EDLRQDMLALQMIKIMDKIWLKEGLDLRMVIFKCLSTGRDRGMVELVPASDTLRKIQVEY
GVTGSFKDKPLAEWLRKYNPSEEEYEKASENFIYSCAGCCVATYVLGICDRHNDNIMLRS
TGHMFHIDFGKFLGHAQMFGSFKRDRAPFVLTSDMAYVINGGEKPTIRFQLFVDLCCQAY
NLIRKQTNLFLNLLSLMIPSGLPELTS
IQDLKYVRDALQPQTTDAEATIFFTRLIESSLG
SIATKFNFFIHNLAQLRFSGLPSNDEPILSFSPKTYSFRQDGRIKEVSVFTYHKKYNPDK
HYIYVVRILREGQIEPSFVFRTFDEFQELHNKLSIIFPLWKLPGFPNRMVLGRTHIKDVA
AKRKIELNSYLQSLMNASTDVAECDLVCTFFHPL
LRDEKAEGIARSADAGSFSPTPGQIG
GAVKLSISYRNGTLFIMVMHIKDLVTEDGADPNPYVKTYLLPDNHKTSKRKTKISRKTRN
PTFNEMLVYSGYSKETLRQRELQLSVLSAESLRENFFLGGVTLPLKDFNLSKETVKWYQL

TAATYL
Sequence length 1686
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Salmonella infection
  Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hypercalcemia Hypercalcemia rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244
View all (1 more)
Unknown
Disease term Disease name Evidence References Source
Oculocerebrodental Syndrome oculocerebrodental syndrome GenCC
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 36830671
Angina Stable Associate 36830671
Bipolar Disorder Associate 24280982, 28195573
Blood Coagulation Disorders Inherited Associate 31034465
Carcinoma Renal Cell Associate 27779101, 37063922
Cardiovascular Diseases Associate 37798313
Cataract Associate 31034465
Ciliary Motility Disorders Associate 31034465
Coronary Artery Disease Associate 36830671
Diabetes Mellitus Type 2 Associate 27193597