phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

Summary
Gene Symbol
  • PIK3CD
Aliases
  • p110D
  • phosphatidylinositol 3-kinase, catalytic, delta polypeptide
  • phosphoinositide-3-kinase C
Organism
Homo sapiens (human)
External Links
NCBI Gene
5293
HGNC
8977
KEGG Gene ID
hsa:5293
PubChem
5293
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • ATP-binding
  • Adaptive immunity
  • Alternative splicing
  • Chemotaxis
  • Cytoplasm
  • Differentiation
  • Direct protein sequencing
  • Disease variant
  • Inflammatory response
  • Innate immunity
  • Kinase
  • Lipid metabolism
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
O00329
  • Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta
A0A2K8FKV1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K00922
Name
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha/beta/delta [EC:2.7.1.153]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 963 in total
DO ID Disease Name Source
DOID:10974 oophoritis
DOID:0001816 angiosarcoma
DOID:0002116 pterygium
DOID:0014667 disease of metabolism
DOID:0040085 bacterial sepsis
DOID:0050012 chikungunya
DOID:0050156 idiopathic pulmonary fibrosis
DOID:0050328 congenital hypothyroidism
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050424 familial adenomatous polyposis
The Human Phenotype Ontology
Displaying entries 1 - 10 of 106 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000010 Recurrent urinary tract infections
HP:0000086 Ectopic kidney
HP:0000122 Unilateral renal agenesis
HP:0000252 Microcephaly
HP:0000306 Abnormality of the chin
HP:0000316 Hypertelorism
HP:0000348 High forehead
HP:0000365 Hearing impairment
Displaying all 5 entries
Disease ID Disease Name
OMIM:613328
  • combined immunodeficiency with faciooculoskeletal anomalies
OMIM:615513
  • immunodeficiency 14
OMIM:619281
  • immunodeficiency 14b, autosomal recessive
ORPHA:221139
  • combined immunodeficiency with faciooculoskeletal anomalies
ORPHA:397596
  • activated PI3K-delta syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000687
Gene Name
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

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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