PIK3C2A - phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha Gene
Also Known as CPK; OCSKD; PI3-K-C2A; PI3K-C2alpha; PI3K-C2-alpha; PI3-K-C2(ALPHA)
Species: Homo sapiens
About PIK3C2A
This gene has 6 transcripts (splice variants), 222 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 18.0), testis (RPKM 13.1) and 25 other tissues.
Summary
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]
PIK3C2A Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001321378.2 | NP_001308307.1 | phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 1 |
| XM_047427128.1 | XP_047283084.1 | phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X2 |
| NM_001321380.2 | NP_001308309.1 | phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 2 |
| NM_002645.4 | NP_002636.2 | phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 1 |
| XM_047427127.1 | XP_047283083.1 | phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform X1 |
| NM_001386870.1 | NP_001373799.1 | phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables 1-phosphatidylinositol-3-kinase activity |
IDA
IDA: Inferred from direct assay
|
9337861 | GOA |
| enables 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity |
IDA
IDA: Inferred from direct assay
|
9337861 | GOA |
| enables 1-phosphatidylinositol-4-phosphate 3-kinase activity |
IDA
IDA: Inferred from direct assay
|
9337861 | GOA |
| enables clathrin binding |
IDA
IDA: Inferred from direct assay
|
11239472 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in endocytosis |
IMP
IMP: Inferred from mutant phenotype
|
21081650 | GOA |
| involved in positive regulation of autophagy |
IMP
IMP: Inferred from mutant phenotype
|
28910396 | GOA |
| involved in positive regulation of cell migration involved in sprouting angiogenesis |
IMP
IMP: Inferred from mutant phenotype
|
26175229 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in clathrin-coated vesicle |
IDA
IDA: Inferred from direct assay
|
10766823 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
21081650 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
10766823 | GOA |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
10766823 | GOA |
| located in vesicle |
IDA
IDA: Inferred from direct assay
|
21081650 | GOA |
PIK3C2A Protein Structure
PI3K_rbd: PI3-kinase family, ras-binding domain (413 - 511)
PI3K_C2: Phosphoinositide 3-kinase C2 (704 - 842)
PI3Ka: Phosphoinositide 3-kinase family, accessory domain (PIK domain) (869 - 1039)
PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (1134 - 1346)
PX: PX domain (1424 - 1533)
C2: C2 domain (1575 - 1661)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1686 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha |
|
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Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acute Anterolateral Myocardial Infarction |
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| Muscular Dystrophy, Duchenne Type |
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| Endocarditis |
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| Necrotizing Fasciitis |
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| Acute Myocardial Infarction |
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| Exanthem |
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| Pyomyositis |
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| Gas Gangrene |
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| Muscular Lipidosis |
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| Posteroinferior Myocardial Infarction |
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| Strabismus |
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| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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| Ectopic Pregnancy |
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| Miyoshi Muscular Dystrophy |
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| Hemopneumothorax |
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| Muscle Tissue Disease |
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| Quadriplegia |
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| Co-Trimoxazole Allergy |
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| Extrinsic Cardiomyopathy |
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| Inflammatory And Toxic Neuropathy |
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| Erysipelas |
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| Compartment Syndrome |
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| Legionellosis |
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| Sarcoid Meningitis |
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| Kidney Disease |
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| Rectum Neuroendocrine Neoplasm |
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| Myopathy |
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| Aspiration Pneumonia |
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| Heart Disease |
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| Hypokalemia |
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| Disseminated Intravascular Coagulation |
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| Muscular Dystrophy, Becker Type |
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| Diabetes Mellitus, Ketosis-Prone |
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| Muscular Disease |
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| Dermatomyositis |
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| Posterior Myocardial Infarction |
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| Myocardial Infarction |
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| Toxoplasmosis |
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| Myringitis Bullosa Hemorrhagica |
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| Cutis Laxa, Autosomal Recessive, Type Iiia |
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| Osteogenesis Imperfecta, Type Xviii |
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| Patent Foramen Ovale |
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| Toxic Myocarditis |
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| Anterior Compartment Syndrome |
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| Pneumonia |
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| Neuroleptic Malignant Syndrome |
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| Thrombocytopenia |
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| Muscular Dystrophy |
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| Childhood Type Dermatomyositis |
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| Coronary Artery Vasospasm |
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| Myotonic Dystrophy 1 |
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| Dengue Disease |
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| Spastic Paraplegia 9b, Autosomal Recessive |
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| Metabolic Acidosis |
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| Left Bundle Branch Hemiblock |
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| Angina Pectoris |
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| Exophthalmic Ophthalmoplegia |
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| Coronary Stenosis |
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| Sarcocystosis |
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| Crimean-Congo Hemorrhagic Fever |
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| Pericardium Disease |
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| Malignant Hyperthermia |
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| Lateral Myocardial Infarction |
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| Mutism |
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| Myoglobinuria |
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| Myxedema |
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| Speech Disorder |
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| Echolalia |
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| Pulmonary Edema |
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| Anteroseptal Myocardial Infarction |
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| Ornithosis |
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| Hypothyroidism |
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| Acute Kidney Failure |
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| Lipoprotein Quantitative Trait Locus |
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| Isolated Elevated Serum Creatine Phosphokinase Levels |
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| Cardiogenic Shock |
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| Granulomatous Myositis |
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| Ischemia |
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| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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| Cardiac Tamponade |
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| Diabetes Mellitus |
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| Status Asthmaticus |
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| Legionnaire Disease |
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| Bacterial Meningitis |
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| Creatine Phosphokinase, Elevated Serum |
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| Oculoskeletodental Syndrome |
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| Breast Juvenile Papillomatosis |
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| Hypertension, Essential |
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| Lung Mixed Small Cell And Squamous Cell Carcinoma |
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| Polymyositis |
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| Respiratory Failure |
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| Leptospirosis |
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| Dilated Cardiomyopathy |
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| Type 2 Diabetes Mellitus |
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| Pericardial Effusion |
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| Subendocardial Myocardial Infarction |
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| Spondylolisthesis |
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| Atrioventricular Block |
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| Raynaud Disease |
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| Acute Kidney Tubular Necrosis |
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| Critical Illness Polyneuropathy |
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| Cataract |
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| Anuria |
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| Inferior Myocardial Infarction |
|
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| Myositis |
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| Myocarditis |
|
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| Pleural Lipoma |
|
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| Trichinosis |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | PIK3C2A | MGD | MGI:1203729 |
| Felis catus | PIK3C2A | VGNC | VGNC:68850 |
| Macaca mulatta | PIK3C2A | VGNC | VGNC:75992 |
| Canis familiaris | PIK3C2A | VGNC | VGNC:44551 |
| Rattus norvegicus | PIK3C2A | RGD | RGD:1310389 |
| Bos taurus | PIK3C2A | VGNC | VGNC:106866 |
| Others | PIK3C2A | NCBI |