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FLASH GENE

Symbol

PIK3CD

contributors: mct - updated : 31-08-2017

HGNC name	phosphoinositide-3-kinase, catalytic, delta polypeptide
HGNC id	8977

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005026 19 - 5411 NP_005017 - 1044 - 2017 28104464 NM_001350235 - - 5073 NP_001337164 - 1015 - 2017 28104464 NM_001350234 - - 5334 NP_001337163 - 1043 - 2017 28104464

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune lymph node       highly   spleen       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic plasma

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a pro-rich region
	a basic leucine zipper-like domain
	a PI3k/PI4k domain

HOMOLOGY

Homologene

FAMILY

PI3/PI4-kinase family

CATEGORY

enzyme , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,granule

basic FUNCTION	regulating cellular responses
	is a key player in NK-cell development and cytokine secretion
	epistatic relationship between PIK3CD and PTEN (pMID: 18178811)
	important role for PIK3CD in regulating B-cell responses to TNFSF13B
	regulates T-cell cytokine production during primary and secondary immune responses (pMID: 20081091)
	new function for PIK3CD as part of the membrane fission machinery required at the trans-Golgi network (TGN) for the selective trafficking and secretion of cytokines in macrophages
	is a lipid kinase of the phosphoinositide 3-kinase class 1A family and involved in early signaling events of leukocytes regulating proliferation, differentiation and survival
	is essential for tumor clearance mediated by cytotoxic T lymphocytes
	role in the development and activation of B lymphocytes through various downstream effectors
	can promote proliferation of diffuse large B cell lymphoma (DLBCL) cells
	PIK3CD increase genomic instability in normal and neoplastic B cells by an AICDA-dependent mechanism

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

a component

heterodimer of a p110 (catalytic) and a p85 (regulatory) subunit

INTERACTION

DNA

RNA

small molecule

protein	binding p85 adaptor proteins (PIK3R1, PIK3R2, PIK3R3)
	interacts with ERAS
	TNF stimulation induces PIK3CD expression in human ECs (endothelial cells) and synovial fibroblasts, but not in leucocytes, through transcription start sites located in a novel promoter region in PIK3CD
	mediates double-stranded (ds) RNA-induced upregulation of CD274 without affecting the activation of NFKB1
	PIK3CD pathway regulates AICDA by suppressing its expression in B cells

cell & other

associating with activated receptor protein-tyrosine kinases

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMD14

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function       --over   in blast cells from acute myeloid leukemia constitutional       loss of function in macrophages led to reduced AKT1 and RAC1 activation, but paradoxically to increased RHOA and PTEN activity

Susceptibility

to primary B-cell immunodeficiency

Variant & Polymorphism other	mutated in primary B-cell immunodeficiency

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   could be druggable in the therapy of diffuse large B cell lymphoma cancer hemopathy   potential therapeutic target in acute myeloid leukemia immunology inflammatory   PI3Kδ inhibition could be chondroprotective in rheumatoid arthritis (RA) by modulating synoviocyte growth, migration, and invasion

ANIMAL & CELL MODELS