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Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]
PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2) is a Protein Coding gene. Diseases associated with PIK3R2 include Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 and Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and GDNF-Family Ligands and Receptor Interactions. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and receptor tyrosine kinase binding. An important paralog of this gene is ENSG00000268173.
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:0001784 | phosphotyrosine residue binding | IPI | 20624904 |
GO:0005515 | protein binding | IEA,IPI | 7537096 |
GO:0019903 | protein phosphatase binding | IPI | 23604317 |
GO:0030971 | receptor tyrosine kinase binding | IPI | 10627473 |
GO:0046935 | 1-phosphatidylinositol-3-kinase regulator activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | ISS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005942 | phosphatidylinositol 3-kinase complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
.92
|
|
2 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
Immune response IL-9 signaling pathway
.42
Development Thrombopoietin-regulated cell processes
.38
IL-9 Pathway
.36
|
|
3 | IL-2 Pathway |
ErbB Family Pathway
.59
ErbB4 Pathway
.59
Prolactin Signaling
.54
Thrombopoietin Pathway
.51
Growth Hormone Signaling
.49
ErbB2-ErbB3 Heterodimers
.49
|
IL-2 Pathway
.48
LPS Stimulated MAPK Signaling
.47
TREM1 Pathway
.43
HMGB1 Pathway
.36
IL-4 Pathway
.34
|
4 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
|
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
eIF2 Pathway
.60
|
5 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Regulation of lipid metabolism Insulin signaling-generic cascades
.59
Translation Insulin regulation of translation
.59
Transcription Receptor-mediated HIF regulation
.51
Translation Regulation of EIF2 activity
.47
|
Translation Regulation of EIF4F activity
.44
Development CNTF receptor signaling
.43
Cell adhesion PLAU signaling
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001678 | cellular glucose homeostasis | ISS | -- |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0007165 | signal transduction | IEA | -- |
GO:0008286 | insulin receptor signaling pathway | IBA | 21873635 |
GO:0010506 | regulation of autophagy | IMP | 23604317 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Isoproterenol | Approved, Investigational | Pharma | Agonist, Full agonist, Target, agonist | 31 | ||
Cyclophosphamide | Approved, Investigational | Pharma | Nitrogen mustard alkylating agent and prodrug. | 3670 | ||
Epirubicin | Approved | Pharma | 483 | |||
Fluorouracil | Approved | Pharma | RNA processing inhibitor and thymidylate synthase inhibitor | 2338 | ||
Wortmannin | Experimental | Pharma | PI3K inhibitor,selective and irreversible, Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
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 |
Compound | Action | Cas Number |
---|---|---|
A66 | P110α inhibitor | 1166227-08-2 |
AS-605240 | Potent and selective PI 3-Kγ inhibitor | 648450-29-7 |
BEZ235 Tosylate | MTOR/P13K inhibitor | 1028385-32-1 |
GSK2636771 | PIK3 inhibitor | 1372540-25-4 |
HS-173 | 1276110-06-5 | |
IC-87114 | PI3Kδ inhibitor | 371242-69-2 |
IPI-145 (INK1197) | PI3K-δ/PI3K-γ inhibitor | 1201438-56-3 |
LY 294002 | Potent PI3K inhibitor | 154447-36-6 |
PI-3065 | P110δkinase inhibitor | 955977-50-1 |
SAR245409 (XL765) | mTOR/PI3K inhibitor | 1349796-36-6 |
TG100-115 | PI3Kγ/PI3Kδ inhibitor | 677297-51-7 |
TG100713 | 925705-73-3 | |
Wortmannin | PI3K inhibitor,selective and irreversible | 19545-26-7 |
XL147 | PI3K inhibitor,selective and reversible | 956958-53-5 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIK3R2 30 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
PIK3R2 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | PIK3R2 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Pik3r2 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Pik3r2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | PIK3R2 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pik3r2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pik3r2 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Pi3K21B 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | aap-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640307 | Uncertain Significance: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,163,145(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
661297 | Uncertain Significance: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,162,473(+) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
663183 | Uncertain Significance: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,162,981(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
684555 | Not Provided: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,160,527(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
707439 | Benign: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 18,155,889(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 |
|
|
megalencephaly-capillary malformation-polymicrogyria syndrome |
|
|
megalencephaly |
|
|
polymicrogyria |
|
|
hydrocephalus |
|
|