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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 sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PIK3C2B (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta) is a Protein Coding gene. Diseases associated with PIK3C2B include Myopathy, Centronuclear, X-Linked and Centronuclear Myopathy. Among its related pathways are Inositol phosphate metabolism (KEGG) and EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is PIK3C2A.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0001727 | lipid kinase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 10805725 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016301 | kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Inositol phosphate metabolism (KEGG) | ||
2 | Metabolism |
.40
|
|
3 | Apoptosis Pathway |
.39
|
|
4 | mTOR Pathway |
.38
.38
|
.32
|
5 | VEGF Pathway (Tocris) |
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0008150 | biological_process | ND | -- |
GO:0009267 | cellular response to starvation | IEA | -- |
GO:0014065 | phosphatidylinositol 3-kinase signaling | IBA | 21873635 |
GO:0016236 | macroautophagy | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Manganese | Approved | Nutra | 56 | |||
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 | 54 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
LY 294002 hydrochloride |
|
934389-88-5 |
|
|
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 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIK3C2B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIK3C2B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PIK3C2B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PIK3C2B 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pik3c2b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pik3c2b 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | PIK3C2B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PIK3C2B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PIK3C2B 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | pik3c2b 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Pi3K68D 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | piki-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS34 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709589 | Benign: not provided | 204,432,264(-) | G/C | MISSENSE_VARIANT | |
710878 | Benign: not provided | 204,465,212(-) | C/T | INTRON_VARIANT | |
712495 | Benign: not provided | 204,469,647(-) | G/A | SYNONYMOUS_VARIANT | |
727202 | Likely Benign: not provided | 204,431,758(-) | G/T | MISSENSE_VARIANT | |
727203 | Benign: not provided | 204,433,901(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1350665 | CNV | deletion | 17803354 |
esv2721851 | CNV | deletion | 23290073 |
esv2721862 | CNV | deletion | 23290073 |
esv2721873 | CNV | deletion | 23290073 |
esv2721884 | CNV | deletion | 23290073 |
esv2721895 | CNV | deletion | 23290073 |
nsv516276 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, centronuclear, x-linked |
|
|
centronuclear myopathy |
|
|