PIK3C2A Gene (Protein Coding)

Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha

GC11M017211
GIFtS:
48
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 ... See more...

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 C2 Domain-Containing Subunit Alpha 3 4
  • 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
  • PI3K-C2alpha 2 3
  • EC 2.7.1.154 4 51
  • Phosphatidylinositol-4-Phosphate 3-Kinase C2 Domain-Containing Subunit Alpha 3
  • Phosphatidylinositol-4-Phosphate 3-Kinase, Catalytic Subunit Type 2 Alpha 2
  • C2-Containing Phosphatidylinositol Kinase 3
  • PI3-K-C2(ALPHA) 3
  • EC 2.7.1.137 4
  • EC 2.7.1.153 4
  • PI3-K-C2A 3
  • EC 2.7.1 51
  • PIK3C2A 5
  • OCSKD 3
  • CPK 3

External Ids for PIK3C2A Gene

Previous GeneCards Identifiers for PIK3C2A Gene

  • GC11M018181
  • GC11M018055
  • GC11M017147
  • GC11M017075
  • GC11M017064
  • GC11M017067
  • GC11M016791
  • GC11M017099
  • GC11M017083
  • GC11M017084
  • GC11M017127
  • GC11M017136
  • GC11M017144
  • GC11M017165
  • GC11M017089
  • GC11M017102
  • GC11M017106
  • GC11M017110
  • GC11M017114
  • GC11M017115
  • GC11M017119
  • GC11M017123
  • GC11M017191

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 Oculoskeletodental Syndrome and Status Asthmaticus. Among its related pathways are Type II diabetes mellitus and PI Metabolism. Gene Ontology (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 PIK3C2B.

UniProtKB/Swiss-Prot Summary 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. Involved in the regulation of ciliogenesis and trafficking of ciliary components (PubMed:31034465).

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

Additional gene information for PIK3C2A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIK3C2A Gene

Genomics for PIK3C2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PIK3C2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIK3C2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIK3C2A

Top Transcription factor binding sites by QIAGEN in the PIK3C2A gene promoter:
  • c-Rel
  • C/EBPbeta
  • Evi-1
  • FOXF2
  • HNF-1
  • HNF-1A
  • Ik-1
  • POU6F1 (c2)

Genomic Locations for PIK3C2A Gene

Latest Assembly
chr11:17,077,730-17,207,986
(GRCh38/hg38)
Size:
130,257 bases
Orientation:
Minus strand

Previous Assembly
chr11:17,108,122-17,229,533
(GRCh37/hg19 by Entrez Gene)
Size:
121,412 bases
Orientation:
Minus strand

chr11:17,099,277-17,229,530
(GRCh37/hg19 by Ensembl)
Size:
130,254 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 Structure • Gene Density

RefSeq DNA sequence for PIK3C2A Gene

Proteins for PIK3C2A Gene

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  • 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;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Part of a complex with ERBB2 and EGFR (PubMed:10805725). Interacts with clathrin trimers (PubMed:11239472, PubMed:16215232). Interacts with SBF2/MTMR13 (By similarity).

    Three dimensional structures from OCA and Proteopedia for PIK3C2A Gene

    Alternative splice isoforms for PIK3C2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3C2A Gene

Protein Expression for PIK3C2A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PIK3C2A Gene

O00443:
  • FTRLIESSLGS
  • FVDLCCQAYNLIRK
  • CDRHNDNIML
  • DRHNDNIM
  • KRDRAPF
  • EFQELHNKL
  • TSDMAYVINGG
  • DLRQDML
  • QRELQLSVLS
  • CVATYVLGI
  • GVTGSFKD

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 Lys229 and Lys267
  • Modification sites at PhosphoSitePlus

Other Protein References for PIK3C2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for PIK3C2A

Domains & Families for PIK3C2A Gene

Gene Families for PIK3C2A Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PIK3C2A Gene

InterPro:
Blocks:
  • C2 domain
  • Phosphatidylinositol 3- and 4-kinase
  • Phosphoinositide 3-kinase, ras-binding domain
ProtoNet:

Suggested Antigen Peptide Sequences for PIK3C2A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61072, highly similar to Phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing alpha polypeptide (EC 2.7.1.154) (B4E2G4_HUMAN)
  • Phosphoinositide 3-kinase-C2-alpha (P3C2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00443

UniProtKB/Swiss-Prot:

P3C2A_HUMAN :
  • Belongs to the PI3/PI4-kinase family.
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with PIK3C2A: view

Function for PIK3C2A Gene

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  6. Cell Lines for research

Molecular function for PIK3C2A Gene

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. Involved in the regulation of ciliogenesis and trafficking of ciliary components (PubMed:31034465).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:18373, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57658, ChEBI:CHEBI:58178, ChEBI:CHEBI:456216; EC=2.7.1.154; Evidence={ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11239472, ECO:0000269|PubMed:9337861};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + ADP + H(+); Xref=Rhea:RHEA:12709, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088, ChEBI:CHEBI:456216; EC=2.7.1.137; Evidence={ECO:0000269|PubMed:10766823, ECO:0000269|PubMed:10805725, ECO:0000269|PubMed:11239472, ECO:0000269|PubMed:9337861};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + ADP + H(+); Xref=Rhea:RHEA:21292, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57836, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.153; Evidence={ECO:0000269|PubMed:11239472, ECO:0000269|PubMed:9337861};.
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 EnzymeRegulation:
Activated by insulin (By similarity). Only slightly inhibited by wortmannin and LY294002. Activated by clathrin.

Enzyme Numbers (IUBMB) for PIK3C2A Gene

Phenotypes From GWAS Catalog for PIK3C2A Gene

Gene Ontology (GO) - Molecular Function for PIK3C2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016303 1-phosphatidylinositol-3-kinase activity TAS,IDA 9337861
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PIK3C2A: view
genes like me logo Genes that share phenotypes with PIK3C2A: view

Human Phenotype Ontology for PIK3C2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIK3C2A Gene

MGI Knock Outs for PIK3C2A:
  • Pik3c2a Pik3c2a<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for PIK3C2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3C2A

No data available for Transcription Factor Targets and HOMER Transcription for PIK3C2A Gene

Localization for PIK3C2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3C2A Gene

Cell membrane. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Cytoplasm. Golgi apparatus, trans-Golgi network. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIK3C2A gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
golgi apparatus 5
extracellular 4
cytoskeleton 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIK3C2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IDA 21081650
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IDA 10766823
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

Pathways by source for PIK3C2A Gene

2 Sino Biological pathways for PIK3C2A Gene
4 Qiagen pathways for PIK3C2A Gene
  • CD28 Signaling in T-Helper Cell
  • ICos-ICosL Pathway in T-Helper Cell
  • PI3K Signaling in B-Lymphocyte
  • VEGF and S-1P Signaling
1 Cell Signaling Technology pathway for PIK3C2A Gene
2 GeneTex pathways for PIK3C2A Gene

SIGNOR curated interactions for PIK3C2A Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PIK3C2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006887 exocytosis TAS 17371240
GO:0006897 endocytosis IMP 21081650
GO:0007173 epidermal growth factor receptor signaling pathway TAS 17371240
GO:0008286 insulin receptor signaling pathway TAS 17371240
genes like me logo Genes that share ontologies with PIK3C2A: view

Drugs & Compounds for PIK3C2A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 64
Wortmannin Experimental Pharma PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 0
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
Quercetin Experimental, Investigational Pharma Antitumor agent, Non-selective PI 3-kinase inhibitor 66

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 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(28:0)
  • pSer(14:0/14:0)
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(30:0)
  • pSer(14:0/16:0)
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
3-Methyladenine Class III PI 3-kinase inhibitor; also inhibits autophagy 5142-23-4
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK 371935-79-4
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

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mRNA/cDNA for PIK3C2A Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIK3C2A

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

No ASD Table

Relevant External Links for PIK3C2A Gene

GeneLoc Exon Structure for
PIK3C2A

Expression for PIK3C2A Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIK3C2A Gene

mRNA expression in normal human tissues for PIK3C2A Gene
mRNA expression by GTEx for PIK3C2A GenemRNA expression by BioGPS 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, MaxQB, and MOPED for PIK3C2A Gene



Protein tissue co-expression partners for PIK3C2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIK3C2A

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.

Evidence on tissue expression from TISSUES for PIK3C2A Gene

  • Liver(4.6)
  • Lung(4.5)
  • Nervous system(3.5)
  • Heart(3.4)
  • Muscle(3.4)
  • Kidney(3.1)
  • Blood(2.9)
  • Thyroid gland(2.8)
  • Skin(2.7)
  • Urine(2.5)
  • Spleen(2.5)
  • Intestine(2.4)
  • Pancreas(2.4)
  • Stomach(2.4)
  • Adrenal gland(2.3)
  • Lymph node(2)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with PIK3C2A: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
 Mammalia PIK3C2A 30 31
  • 99.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PIK3C2A 30 31
  • 92.98 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PIK3C2A 30 31
  • 91.88 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Pik3c2a 30 17 31
  • 89.71 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pik3c2a 30
  • 89.42 (n)
Oppossum
(Monodelphis domestica)
 Mammalia PIK3C2A 31
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PIK3C2A 31
  • 83 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PIK3C2A 30 31
  • 75.65 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PIK3C2A 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pik3c2a 30
  • 65.11 (n)
Str.7067 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14586 30
Zebrafish
(Danio rerio)
 Actinopterygii pik3c2a 30 31
  • 63.72 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Pi3K68D 30 31 32
  • 48.34 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011036 30
  • 46.16 (n)
Worm
(Caenorhabditis elegans)
 Secernentea piki-1 30 31
  • 44.87 (n)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VPS34 31
  • 22 (a)
 OneToMany
Species where no ortholog for PIK3C2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PIK3C2A: view image

Paralogs for PIK3C2A Gene

Paralogs for PIK3C2A Gene

(12) SIMAP similar genes for PIK3C2A Gene using alignment to 5 proteins:

  • P3C2A_HUMAN
  • B4E2G4_HUMAN
  • E9PPP3_HUMAN
  • F5H2B0_HUMAN
  • L7RRS0_HUMAN
genes like me logo Genes that share paralogs with PIK3C2A: view

Variants for PIK3C2A Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIK3C2A Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
940979 Uncertain Significance: not provided 17,131,990(-) A/C
NM_001321378.2(PIK3C2A):c.2157T>G (p.Asp719Glu) 		MISSENSE
940980 Uncertain Significance: not provided 17,097,233(-) T/C
NM_001321378.2(PIK3C2A):c.4150A>G (p.Thr1384Ala) 		MISSENSE
rs138394492 Benign: not provided 17,168,713(-) T/C
NM_001321378.2(PIK3C2A):c.1029A>G (p.Thr343=) 		SYNONYMOUS_VARIANT,INTRON
rs1565272952 Pathogenic: Short stature; OCULOSKELETODENTAL SYNDROME 17,145,862(-) C/A
NM_002645.4(PIK3C2A):c.1640+1G>T 		SPLICE_DONOR
rs1565287817 Likely Pathogenic: OCULOSKELETODENTAL SYNDROME 17,169,157(-) A/C
NM_001321380.2(PIK3C2A):c.-75-13528T>G 		NONSENSE,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIK3C2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2677594 CNV deletion 23128226
esv3625466 CNV loss 21293372
nsv467711 CNV gain 19166990
nsv469762 CNV gain 16826518
nsv477831 CNV novel sequence insertion 20440878
nsv553567 CNV gain 21841781
nsv553568 CNV gain 21841781
nsv7691 CNV deletion 18451855
nsv971989 CNV duplication 23825009

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)

Additional Variant Information for PIK3C2A Gene

Human Gene Mutation Database (HGMD)
PIK3C2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3C2A

SNP Genotyping and Copy Number Assays for research

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

Disorders for PIK3C2A Gene

MalaCards: The human disease database

(113) MalaCards diseases for PIK3C2A Gene - From: OMI, CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
oculoskeletodental syndrome
  • ocskd
status asthmaticus
  • asthma with status asthmaticus
neuroleptic malignant syndrome
leptospirosis
  • fort bragg fever
acute kidney failure
  • acute renal failure
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

P3C2A_HUMAN
  • Oculoskeletodental syndrome (OCSKD) [MIM:618440]: An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis. {ECO:0000269 PubMed:31034465}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PIK3C2A

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

No data available for Genatlas for PIK3C2A Gene

Publications for PIK3C2A Gene

  1. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. (PMID: 31034465) Tiosano D … Buchner DA (PLoS genetics 2019) 3 4 74
  2. Structural and membrane binding analysis of the Phox homology domain of phosphoinositide 3-kinase-C2alpha. (PMID: 17038310) Stahelin RV … Cho W (The Journal of biological chemistry 2006) 3 4 23
  3. Individual phosphoinositide 3-kinase C2alpha domain activities independently regulate clathrin function. (PMID: 16215232) Gaidarov I … Keen JH (The Journal of biological chemistry 2005) 3 4 23
  4. Phosphatidylinositol 3-kinase c2alpha contains a nuclear localization sequence and associates with nuclear speckles. (PMID: 11606566) Didichenko SA … Thelen M (The Journal of biological chemistry 2001) 3 4 23
  5. Class II phosphoinositide 3-kinases are downstream targets of activated polypeptide growth factor receptors. (PMID: 10805725) Arcaro A … Domin J (Molecular and cellular biology 2000) 3 4 23

ExternalLinks

View latest publications for PIK3C2A gene in Mastermind

Products for PIK3C2A Gene

Sources for PIK3C2A Gene