• Gene id: 5293

Gene Summary

• Gene Symbol: PIK3CD   Gene   UCSC   Ensembl
• Aliases: APDS, IMD14, P110DELTA, PI3K, p110D
• Gene name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
• Alternate names: phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform, PI3-kinase p110 subunit delta, PI3Kdelta, phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic ,
• Gene location: 1p36.22 (9629888: 9729113)     Exons: 30     NC_000001.11
• Gene summary(Entrez): Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), th
• OMIM: 113530

Protein Summary

• Protein general information: O00329  
  • Name: Phosphatidylinositol 4,5 bisphosphate 3 kinase catalytic subunit delta isoform (PI3 kinase subunit delta) (PI3K delta) (PI3Kdelta) (PtdIns 3 kinase subunit delta) (EC 2.7.1.153) (Phosphatidylinositol 4,5 bisphosphate 3 kinase 110 kDa catalytic subunit del
  • Length: 1044  
  • Mass: 119479
  • Tissue specificity: Isoform 2 is expressed in normal thymus, lung and spleen tissues, and is detected at low levels in normal lysates from colon and ovarian biopsies, at elevated levels in lysates from colorectal tumors and is abundantly expressed in some
• Sequence:

  MPPGVDCPMEFWTKEENQSVVVDFLLPTGVYLNFPVSRNANLSTIKQLLWHRAQYEPLFHMLSGPEAYVFTCINQ
  TAEQQELEDEQRRLCDVQPFLPVLRLVAREGDRVKKLINSQISLLIGKGLHEFDSLCDPEVNDFRAKMCQFCEEA
  AARRQQLGWEAWLQYSFPLQLEPSAQTWGPGTLRLPNRALLVNVKFEGSEESFTFQVSTKDVPLALMACALRKKA
  TVFRQPLVEQPEDYTLQVNGRHEYLYGSYPLCQFQYICSCLHSGLTPHLTMVHSSSILAMRDEQSNPAPQVQKPR
  AKPPPIPAKKPSSVSLWSLEQPFRIELIQGSKVNADERMKLVVQAGLFHGNEMLCKTVSSSEVSVCSEPVWKQRL
  EFDINICDLPRMARLCFALYAVIEKAKKARSTKKKSKKADCPIAWANLMLFDYKDQLKTGERCLYMWPSVPDEKG
  ELLNPTGTVRSNPNTDSAAALLICLPEVAPHPVYYPALEKILELGRHSECVHVTEEEQLQLREILERRGSGELYE
  HEKDLVWKLRHEVQEHFPEALARLLLVTKWNKHEDVAQMLYLLCSWPELPVLSALELLDFSFPDCHVGSFAIKSL
  RKLTDDELFQYLLQLVQVLKYESYLDCELTKFLLDRALANRKIGHFLFWHLRSEMHVPSVALRFGLILEAYCRGS
  THHMKVLMKQGEALSKLKALNDFVKLSSQKTPKPQTKELMHLCMRQEAYLEALSHLQSPLDPSTLLAEVCVEQCT
  FMDSKMKPLWIMYSNEEAGSGGSVGIIFKNGDDLRQDMLTLQMIQLMDVLWKQEGLDLRMTPYGCLPTGDRTGLI
  EVVLRSDTIANIQLNKSNMAATAAFNKDALLNWLKSKNPGEALDRAIEEFTLSCAGYCVATYVLGIGDRHSDNIM
  IRESGQLFHIDFGHFLGNFKTKFGINRERVPFILTYDFVHVIQQGKTNNSEKFERFRGYCERAYTILRRHGLLFL
  HLFALMRAAGLPELSCSKDIQYLKDSLALGKTEEEALKHFRVKFNEALRESWKTKVNWLAHNVSKDNRQ

• Structural information:
  • Protein Domains: (16..10-)
    (/note="PI3K-ABD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00877-)
    (187..27-)
    (/note="PI3K-RBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00879-)
    (319..47-)
    (/note="C2-PI3K-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR016024  IPR035892  IPR011009  IPR000403  IPR036940   IPR018936  IPR001263  IPR042236  IPR003113  IPR002420  IPR000341  IPR008290  IPR037703  IPR015433  IPR029071  
  • Prosite: PS51547 PS00915 PS00916 PS50290 PS51544 PS51546 PS51545
  • CDD: cd05174
  • PDB: 5DXU 5M6U 5T8F 5UBT 5VLR 6G6W 6OCO 6OCU 6PYR 6PYU
  • PDBsum: 5DXU 5M6U 5T8F 5UBT 5VLR 6G6W 6OCO 6OCU 6PYR 6PYU
  • STRING: ENSP00000366563
• Other Databases: GeneCards:  PIK3CD  Malacards:  PIK3CD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0016303	1-phosphatidylinositol-3-kinase activity	IBA	molecular function
GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA	molecular function
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IBA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0005942	phosphatidylinositol 3-kinase complex	IBA	cellular component
GO:0014065	phosphatidylinositol 3-kinase signaling	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0052742	phosphatidylinositol kinase activity	IBA	molecular function
GO:0014065	phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0035004	phosphatidylinositol 3-kinase activity	IEA	molecular function
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006935	chemotaxis	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0002250	adaptive immune response	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0052812	phosphatidylinositol-3,4-bisphosphate 5-kinase activity	IEA	molecular function
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA	molecular function
GO:0016301	kinase activity	IDA	molecular function
GO:0016310	phosphorylation	IDA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0042629	mast cell granule	IEA	cellular component
GO:0014065	phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0033031	positive regulation of neutrophil apoptotic process	IMP	biological process
GO:0072672	neutrophil extravasation	TAS	biological process
GO:0035004	phosphatidylinositol 3-kinase activity	TAS	molecular function
GO:0030217	T cell differentiation	TAS	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	NAS	molecular function
GO:0006954	inflammatory response	TAS	biological process
GO:0002679	respiratory burst involved in defense response	TAS	biological process
GO:0001816	cytokine production	TAS	biological process
GO:0001779	natural killer cell differentiation	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0042110	T cell activation	TAS	biological process
GO:0035754	B cell chemotaxis	TAS	biological process
GO:0030593	neutrophil chemotaxis	TAS	biological process
GO:0030101	natural killer cell activation	TAS	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0005942	phosphatidylinositol 3-kinase complex	NAS	cellular component
GO:0005942	phosphatidylinositol 3-kinase complex	NAS	cellular component
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0042113	B cell activation	TAS	biological process
GO:0035747	natural killer cell chemotaxis	TAS	biological process
GO:0010818	T cell chemotaxis	TAS	biological process
GO:0006954	inflammatory response	TAS	biological process
GO:0006468	protein phosphorylation	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002250	adaptive immune response	TAS	biological process
GO:0060374	mast cell differentiation	TAS	biological process
GO:0050853	B cell receptor signaling pathway	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0043303	mast cell degranulation	TAS	biological process
GO:0007165	signal transduction	NAS	biological process
GO:0002551	mast cell chemotaxis	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa05010	Alzheimer disease
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa05131	Shigellosis
hsa04014	Ras signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa04510	Focal adhesion
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa05203	Viral carcinogenesis
hsa05205	Proteoglycans in cancer
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04150	mTOR signaling pathway
hsa05225	Hepatocellular carcinoma
hsa05017	Spinocerebellar ataxia
hsa04072	Phospholipase D signaling pathway
hsa04140	Autophagy - animal
hsa04932	Non-alcoholic fatty liver disease
hsa04630	JAK-STAT signaling pathway
hsa05164	Influenza A
hsa04910	Insulin signaling pathway
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05224	Breast cancer
hsa04380	Osteoclast differentiation
hsa05160	Hepatitis C
hsa05418	Fluid shear stress and atherosclerosis
hsa05135	Yersinia infection
hsa04611	Platelet activation
hsa04210	Apoptosis
hsa04926	Relaxin signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa04071	Sphingolipid signaling pathway
hsa04725	Cholinergic synapse
hsa04152	AMPK signaling pathway
hsa04068	FoxO signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04070	Phosphatidylinositol signaling system
hsa04935	Growth hormone synthesis, secretion and action
hsa05162	Measles
hsa04919	Thyroid hormone signaling pathway
hsa04915	Estrogen signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa05231	Choline metabolism in cancer
hsa04668	TNF signaling pathway
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04931	Insulin resistance
hsa04666	Fc gamma R-mediated phagocytosis
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04620	Toll-like receptor signaling pathway
hsa04066	HIF-1 signaling pathway
hsa04662	B cell receptor signaling pathway
hsa04914	Progesterone-mediated oocyte maturation
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa05142	Chagas disease
hsa05222	Small cell lung cancer
hsa04012	ErbB signaling pathway
hsa04211	Longevity regulating pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa00562	Inositol phosphate metabolism
hsa01522	Endocrine resistance
hsa05146	Amoebiasis
hsa05100	Bacterial invasion of epithelial cells
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05215	Prostate cancer
hsa05214	Glioma
hsa04664	Fc epsilon RI signaling pathway
hsa05212	Pancreatic cancer
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa04917	Prolactin signaling pathway
hsa05221	Acute myeloid leukemia
hsa05211	Renal cell carcinoma
hsa05218	Melanoma
hsa05223	Non-small cell lung cancer
hsa04929	GnRH secretion
hsa04213	Longevity regulating pathway - multiple species
hsa04930	Type II diabetes mellitus
hsa04370	VEGF signaling pathway
hsa05213	Endometrial cancer
hsa04923	Regulation of lipolysis in adipocytes
hsa05230	Central carbon metabolism in cancer
hsa01524	Platinum drug resistance
hsa04973	Carbohydrate digestion and absorption
hsa04960	Aldosterone-regulated sodium reabsorption

Diseases

Associated diseases	References
Activated PI3K-delta syndrome	KEGG:H01387
Activated PI3K-delta syndrome	KEGG:H01387
Endometrial cancer	PMID:21478295
Glioblastoma multiforme	PMID:24523440
colorectal cancer	PMID:25366420
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq