phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Summary
Gene Symbol
  • PIK3C2A
Aliases
  • PI3K-C2alpha
  • Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha
Organism
Homo sapiens (human)
External Links
NCBI Gene
5286
HGNC
8971
KEGG Gene ID
hsa:5286
PubChem
5286
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Acetylation
  • Alternative splicing
  • Cataract
  • Cell membrane
  • Cytoplasm
  • Cytoplasmic vesicle
  • Disease variant
  • Dwarfism
  • Endocytosis
  • Exocytosis
  • Golgi apparatus
  • Kinase
  • Lipid metabolism
  • Nucleus
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 3 entries
UniProt Protein Name
L7RRS0
B4DG55
O00443
  • Phosphoinositide 3-kinase-C2-alpha
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000011405

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00923
Name
phosphatidylinositol-4-phosphate 3-kinase [EC:2.7.1.154]
References
Disease
Disease Ontology
Displaying entries 11 - 20 of 107 in total
DO ID Disease Name Source
DOID:0060255 rippling muscle disease 2
DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative
DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0080092 myofibrillar myopathy 1
DOID:0080094 myofibrillar myopathy 3
DOID:0110273 autosomal dominant limb-girdle muscular dystrophy
DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A
DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B
DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C
The Human Phenotype Ontology
Displaying entries 21 - 30 of 55 in total
HPO ID HPO Term
HP:0000821 Hypothyroidism
HP:0001263 Global developmental delay
HP:0001297 Stroke
HP:0001328 Specific learning disability
HP:0001518 Small for gestational age
HP:0001744 Splenomegaly
HP:0001999 Abnormal facial shape
HP:0002150 Hypercalciuria
HP:0002162 Low posterior hairline
HP:0002240 Hepatomegaly
Displaying all 2 entries
Disease ID Disease Name
OMIM:618440
  • oculocerebrodental syndrome
ORPHA:557003
  • oculocerebrodental syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001532
Gene Name
phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024