Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PIK3C2A Gene

Aliases for PIK3C2A Gene

  • Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha 2 3 5
  • Phosphatidylinositol-4-Phosphate 3-Kinase, Catalytic Subunit Type 2 Alpha 2 3
  • Phosphoinositide-3-Kinase, Class 2, Alpha Polypeptide 2 3
  • Phosphoinositide 3-Kinase-C2-Alpha 3 4
  • PtdIns-3-Kinase C2 Subunit Alpha 3 4
  • PI3K-C2-Alpha 3 4
  • EC 2.7.1.154 4 63
  • Phosphatidylinositol-4-Phosphate 3-Kinase C2 Domain-Containing Subunit Alpha 3
  • C2-Containing Phosphatidylinositol Kinase 3
  • PI3-K-C2(ALPHA) 3
  • PI3K-C2alpha 3
  • PI3-K-C2A 3
  • EC 2.7.1 63
  • CPK 3

External Ids for PIK3C2A Gene

Previous GeneCards Identifiers for PIK3C2A Gene

  • GC11M018181
  • GC11M018055
  • GC11M017147
  • GC11M017075
  • GC11M017064
  • GC11M017067
  • GC11M016791
  • GC11M017099
  • GC11M017083
  • GC11M017084

Summaries for PIK3C2A Gene

Entrez Gene Summary for PIK3C2A 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 trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-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 wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIK3C2A Gene

PIK3C2A (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha) is a Protein Coding gene. Diseases associated with PIK3C2A include myositis and neuroleptic malignant syndrome. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is PIK3CB.

UniProtKB/Swiss-Prot for PIK3C2A Gene

  • 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. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule exocytosis probably in insulin granule fusion. Synthesizes PtdIns3P in response to insulin signaling. Functions in clathrin-coated endocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by recruiting EEA1 to internalizing vesicles. In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles. Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC) phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit MYPT1. May play a role in the EGF signaling cascade. May be involved in mitosis and UV-induced damage response. Required for maintenance of normal renal structure and function by supporting normal podocyte function.

Tocris Summary for PIK3C2A 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 PIK3C2A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3C2A Gene

Genomics for PIK3C2A Gene

Regulatory Elements for PIK3C2A Gene

Enhancers for PIK3C2A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PIK3C2A on UCSC Golden Path with GeneCards custom track

Promoters for PIK3C2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIK3C2A on UCSC Golden Path with GeneCards custom track

Genomic Location for PIK3C2A Gene

Chromosome:
11
Start:
17,077,730 bp from pter
End:
17,207,996 bp from pter
Size:
130,267 bases
Orientation:
Minus strand

Genomic View for PIK3C2A Gene

Genes around PIK3C2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3C2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3C2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3C2A Gene

Proteins for PIK3C2A Gene

  • Protein details for PIK3C2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00443-P3C2A_HUMAN
    Recommended name:
    Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha
    Protein Accession:
    O00443
    Secondary Accessions:
    • B0LPH2
    • B4E2G4
    • Q14CQ9

    Protein attributes for PIK3C2A Gene

    Size:
    1686 amino acids
    Molecular mass:
    190680 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Part of a complex with ERBB2 and EGFR. Interacts with clathrin trimers.

    Three dimensional structures from OCA and Proteopedia for PIK3C2A Gene

    Alternative splice isoforms for PIK3C2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3C2A Gene

Proteomics data for PIK3C2A Gene at MOPED

Post-translational modifications for PIK3C2A Gene

  • Phosphorylated upon insulin stimulation; which may lead to enzyme activation (By similarity). Phosphorylated on Ser-259 during mitosis and upon UV irradiation; which does not change enzymatic activity but leads to proteasomal degradation. Ser-259 phosphorylation may be mediated by CDK1 or JNK, depending on the physiological state of the cell.
  • Ubiquitination at Lys 229 and Lys 267
  • Modification sites at PhosphoSitePlus

Other Protein References for PIK3C2A Gene

Domains & Families for PIK3C2A Gene

Graphical View of Domain Structure for InterPro Entry

O00443

UniProtKB/Swiss-Prot:

P3C2A_HUMAN :
  • Contains 1 C2 domain.
  • Belongs to the PI3/PI4-kinase family.
Domain:
  • Contains 1 C2 domain.
  • Contains 1 C2 PI3K-type domain.
  • Contains 1 PI3K-RBD domain.
  • Contains 1 PI3K/PI4K domain.
  • Contains 1 PIK helical domain.
  • Contains 1 PX (phox homology) domain.
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with PIK3C2A: view

Function for PIK3C2A Gene

Molecular function for PIK3C2A Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=122 uM for PtdIns (in the absence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; KM=64 uM for PtdIns (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; KM=25 uM for PtdIns4P (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; KM=15 uM for ATP (with PtdIns as substrate) (in the absence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; KM=32 uM for ATP (with PtdIns as substrate) (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; KM=54 uM for ATP (with PtdIns4P as substrate) (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; Vmax=990 pmol/min/mg enzyme with PtdIns as substrate (in the absence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; Vmax=200 pmol/min/mg enzyme with PtdIns as substrate (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; Vmax=240 pmol/min/mg enzyme with PtdIns4P as substrate (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; Vmax=6800 pmol/min/mg enzyme toward ATP with PtdIns as substrate (in the absence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; Vmax=805 pmol/min/mg enzyme toward ATP with PtdIns as substrate (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; Vmax=880 pmol/min/mg enzyme toward ATP with PtdIns4P as substrate (in the presence of phosphatidylserine) {ECO:0000269 PubMed:9337861}; Note=In the absence of the carrier phosphatidylserine, enzymatic kinetics toward PtdIns4P are non-linear.;
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by insulin (By similarity). Only slightly inhibited by wortmannin and LY294002. Activated by clathrin.
UniProtKB/Swiss-Prot 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. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule exocytosis probably in insulin granule fusion. Synthesizes PtdIns3P in response to insulin signaling. Functions in clathrin-coated endocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by recruiting EEA1 to internalizing vesicles. In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles. Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC) phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit MYPT1. May play a role in the EGF signaling cascade. May be involved in mitosis and UV-induced damage response. Required for maintenance of normal renal structure and function by supporting normal podocyte function.

Enzyme Numbers (IUBMB) for PIK3C2A Gene

genes like me logo Genes that share phenotypes with PIK3C2A: view

Animal Models for PIK3C2A Gene

MGI Knock Outs for PIK3C2A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PIK3C2A

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIK3C2A Gene

Localization for PIK3C2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3C2A Gene

Cell membrane. Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Cytoplasm. Note=Inserts preferentially into membranes containing PtdIns(4,5)P2 (PubMed:17038310). Associated with RNA-containing structures (PubMed:11606566). {ECO:0000269 PubMed:11606566, ECO:0000269 PubMed:17038310}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIK3C2A Gene COMPARTMENTS Subcellular localization image for PIK3C2A gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
nucleus 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
vacuole 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PIK3C2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0030136 clathrin-coated vesicle IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PIK3C2A: view

Pathways & Interactions for PIK3C2A Gene

genes like me logo Genes that share pathways with PIK3C2A: view

SIGNOR curated interactions for PIK3C2A Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PIK3C2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0014829 vascular smooth muscle contraction TAS 17371240
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process TAS 9337861
GO:0048015 phosphatidylinositol-mediated signaling IEA --
genes like me logo Genes that share ontologies with PIK3C2A: view

Drugs & Compounds for PIK3C2A Gene

(86) Drugs for PIK3C2A Gene - From: DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Quercetin Experimental Nutra Antitumor agent, Non-selective PI 3-kinase inhibitor 36
SF1126 Investigational Pharma inhibitor Kinase Inhibitors 0
XL147 Investigational Pharma inhibitor PI3K inhibitor,selective and reversible, Kinase Inhibitors, Phosphatidylinositol-3- kinase (PI-3K) inhibitors 0
Wortmannin Pharma PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0

(167) Additional Compounds for PIK3C2A Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
PS(14:0/14:0)
  • 1-Myristoyl-2-myristoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:0)
  • Phosphatidylserine(28:0)
  • PS(14:0/14:0)
  • PS(28:0)
PS(14:0/14:1(9Z))
  • 1-Myristoyl-2-myristoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/14:1)
  • Phosphatidylserine(14:0/14:1n5)
  • Phosphatidylserine(14:0/14:1w5)
  • Phosphatidylserine(28:1)
PS(14:0/16:0)
  • 1-Myristoyl-2-palmitoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:0)
  • Phosphatidylserine(30:0)
  • PS(14:0/16:0)
  • PS(30:0)
PS(14:0/16:1(9Z))
  • 1-Myristoyl-2-palmitoleoyl-sn-glycero-3-phosphoserine
  • Phosphatidylserine(14:0/16:1)
  • Phosphatidylserine(14:0/16:1n7)
  • Phosphatidylserine(14:0/16:1w7)
  • Phosphatidylserine(30:1)

(5) Tocris Compounds for PIK3C2A Gene

Compound Action Cas Number
740 Y-P Cell-permeable PI 3-kinase activator 1236188-16-1
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
LY 303511 Negative control of LY 294002 (Cat. No. 1130) 154447-38-8
Quercetin Non-selective PI 3-kinase inhibitor 117-39-5
Wortmannin Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 19545-26-7
genes like me logo Genes that share compounds with PIK3C2A: view

Transcripts for PIK3C2A Gene

Unigene Clusters for PIK3C2A Gene

Phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3C2A Gene

No ASD Table

Relevant External Links for PIK3C2A Gene

GeneLoc Exon Structure for
PIK3C2A
ECgene alternative splicing isoforms for
PIK3C2A

Expression for PIK3C2A Gene

mRNA expression in normal human tissues for PIK3C2A Gene

Protein differential expression in normal tissues from HIPED for PIK3C2A Gene

This gene is overexpressed in Plasma (14.4), Placenta (9.8), and Testis (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PIK3C2A Gene



SOURCE GeneReport for Unigene cluster for PIK3C2A Gene Hs.175343

mRNA Expression by UniProt/SwissProt for PIK3C2A Gene

O00443-P3C2A_HUMAN
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 ovary, and lowest levels in the kidney. Detected at low levels in islets of Langerhans from type 2 diabetes mellitus individuals.
genes like me logo Genes that share expression patterns with PIK3C2A: view

Protein tissue co-expression partners for PIK3C2A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PIK3C2A Gene

Orthologs for PIK3C2A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PIK3C2A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIK3C2A 35
  • 91.88 (n)
  • 91.94 (a)
PIK3C2A 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIK3C2A 35
  • 92.98 (n)
  • 93.71 (a)
PIK3C2A 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pik3c2a 35
  • 89.71 (n)
  • 90.32 (a)
Pik3c2a 16
Pik3c2a 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIK3C2A 35
  • 99.53 (n)
  • 99.58 (a)
PIK3C2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3c2a 35
  • 89.42 (n)
  • 90.45 (a)
oppossum
(Monodelphis domestica)
Mammalia PIK3C2A 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3C2A 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3C2A 35
  • 75.65 (n)
  • 76.13 (a)
PIK3C2A 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIK3C2A 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3c2a 35
  • 65.11 (n)
  • 69.19 (a)
Str.7067 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14586 35
zebrafish
(Danio rerio)
Actinopterygii pik3c2a 35
  • 63.72 (n)
  • 64 (a)
pik3c2a 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pi3K68D 37
  • 36 (a)
Pi3K68D 35
  • 48.34 (n)
  • 40.25 (a)
Pi3K68D 36
  • 30 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011036 35
  • 46.16 (n)
  • 39.02 (a)
worm
(Caenorhabditis elegans)
Secernentea piki-1 35
  • 44.87 (n)
  • 33.74 (a)
piki-1 36
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS34 36
  • 22 (a)
OneToMany
Species with no ortholog for PIK3C2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PIK3C2A Gene

ENSEMBL:
Gene Tree for PIK3C2A (if available)
TreeFam:
Gene Tree for PIK3C2A (if available)

Paralogs for PIK3C2A Gene

Paralogs for PIK3C2A Gene

genes like me logo Genes that share paralogs with PIK3C2A: view

Variants for PIK3C2A Gene

Sequence variations from dbSNP and Humsavar for PIK3C2A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs11604561 - 17,097,140(+) GTATG(C/T)TTTAG reference, missense
rs522619 -- 17,182,901(-) GATCA(C/T)GCTGC intron-variant
rs527810 -- 17,179,519(+) AGTAC(A/G)TACTT intron-variant
rs530661 -- 17,179,172(-) aaata(A/G)ataaa intron-variant
rs536628 -- 17,186,545(-) TCTCT(C/T)TATTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3C2A Gene

Variant ID Type Subtype PubMed ID
nsv467711 CNV Gain 19166990
esv2677594 CNV Deletion 23128226
nsv7691 CNV Loss 18451855
nsv469762 CNV Complex 16826518

Variation tolerance for PIK3C2A Gene

Residual Variation Intolerance Score: 7.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIK3C2A Gene

HapMap Linkage Disequilibrium report
PIK3C2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3C2A Gene

Disorders for PIK3C2A Gene

MalaCards: The human disease database

(54) MalaCards diseases for PIK3C2A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myositis
  • inflammatory disorder of muscle
neuroleptic malignant syndrome
status asthmaticus
  • asthma with status asthmaticus
acute kidney failure
  • renal failure acute
dermatomyositis
  • amyopathic dermatomyositis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PIK3C2A

Genetic Association Database (GAD)
PIK3C2A
Human Genome Epidemiology (HuGE) Navigator
PIK3C2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3C2A
genes like me logo Genes that share disorders with PIK3C2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIK3C2A Gene

Publications for PIK3C2A Gene

  1. Cloning of a human phosphoinositide 3-kinase with a C2 domain which displays reduced sensitivity to the inhibitor wortmannin. (PMID: 9337861) Domin J. … Waterfield M.D. (Biochem. J. 1997) 2 3 4 67
  2. Down-regulation of class II phosphoinositide 3-kinase alpha expression below a critical threshold induces apoptotic cell death. (PMID: 18403640) Elis W. … Mackeigan J.P. (Mol. Cancer Res. 2008) 3 23
  3. Phosphoinositide 3-kinase C2alpha links clathrin to microtubule-dependent movement. (PMID: 17110375) Zhao Y. … Keen J.H. (J. Biol. Chem. 2007) 3 23
  4. The role of phosphoinositide 3-kinase C2alpha in insulin signaling. (PMID: 17644513) Falasca M. … Maffucci T. (J. Biol. Chem. 2007) 3 23
  5. Structural and membrane binding analysis of the Phox homology domain of phosphoinositide 3-kinase-C2alpha. (PMID: 17038310) Stahelin R.V. … Cho W. (J. Biol. Chem. 2006) 3 23

Products for PIK3C2A Gene

Sources for PIK3C2A Gene

Content