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 31 - 40 of 107 in total
DO ID Disease Name Source
DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y
DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O
DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P
DOID:0110294 autosomal recessive limb-girdle muscular dystrophy type 2T
DOID:5854 silent myocardial infarction
DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U
DOID:0110296 autosomal recessive limb-girdle muscular dystrophy type 2M
DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K
DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N
DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I
The Human Phenotype Ontology
Displaying entries 1 - 10 of 55 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000104 Renal agenesis
HP:0000121 Nephrocalcinosis
HP:0000158 Macroglossia
HP:0000164 Abnormality of the dentition
HP:0000278 Retrognathia
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
HP:0000294 Low anterior hairline
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