Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	5293
Gene name	Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Gene symbol	PIK3CD
Synonyms (NCBI Gene)	APDSIMD14IMD14AIMD14BP110DELTAPI3KROCHISp110D
Chromosome	1
Chromosome location	1p36.22
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28730670	C>A,G,T	Pathogenic, benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs397518423	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777389	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777390	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064795762	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

227

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006777	hsa-miR-7-5p	Luciferase reporter assay	22234835
MIRT006777	hsa-miR-7-5p	Luciferase reporter assay	22234835
MIRT006777	hsa-miR-7-5p	Luciferase reporter assay	22234835
MIRT006777	hsa-miR-7-5p	Luciferase reporter assay	22234835
MIRT006777	hsa-miR-7-5p	Luciferase reporter assay	22234835
MIRT006777	hsa-miR-7-5p	Luciferase reporter assay	22234835
MIRT007097	hsa-miR-30a-5p	Luciferase reporter assayqRT-PCRWestern blot	23486085
MIRT007097	hsa-miR-30a-5p	Luciferase reporter assayqRT-PCRWestern blot	23486085
MIRT047463	hsa-miR-10b-5p	CLASH	23622248
MIRT053622	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	23160634
MIRT054421	hsa-miR-663a	ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	24523440
MIRT054421	hsa-miR-663a	ImmunohistochemistryLuciferase reporter assayMicroarrayqRT-PCRWestern blot	24523440
MIRT053622	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	24517182
MIRT053622	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	24517182
MIRT006777	hsa-miR-7-5p	qRT-PCRWestern blot	27391479
MIRT735307	hsa-miR-30b-3p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)Immunohistochemistry (IHC)qRT-PCRIn situ hybridizationELISA	32336754
MIRT1234134	hsa-miR-1228	CLIP-seq
MIRT1234135	hsa-miR-1258	CLIP-seq
MIRT1234136	hsa-miR-1285	CLIP-seq
MIRT1234137	hsa-miR-1292	CLIP-seq
MIRT1234138	hsa-miR-1827	CLIP-seq
MIRT1234139	hsa-miR-190	CLIP-seq
MIRT1234140	hsa-miR-190b	CLIP-seq
MIRT1234141	hsa-miR-24	CLIP-seq
MIRT1234142	hsa-miR-298	CLIP-seq
MIRT1234143	hsa-miR-3125	CLIP-seq
MIRT1234144	hsa-miR-3178	CLIP-seq
MIRT1234145	hsa-miR-3187-5p	CLIP-seq
MIRT1234146	hsa-miR-3192	CLIP-seq
MIRT1234147	hsa-miR-34b	CLIP-seq
MIRT1234148	hsa-miR-3613-3p	CLIP-seq
MIRT1234149	hsa-miR-3614-5p	CLIP-seq
MIRT1234150	hsa-miR-3664-3p	CLIP-seq
MIRT1234151	hsa-miR-3667-5p	CLIP-seq
MIRT1234152	hsa-miR-3689a-3p	CLIP-seq
MIRT1234153	hsa-miR-3689c	CLIP-seq
MIRT1234154	hsa-miR-371-5p	CLIP-seq
MIRT1234155	hsa-miR-371b-5p	CLIP-seq
MIRT1234156	hsa-miR-3916	CLIP-seq
MIRT1234157	hsa-miR-3929	CLIP-seq
MIRT1234158	hsa-miR-4265	CLIP-seq
MIRT1234159	hsa-miR-4284	CLIP-seq
MIRT1234160	hsa-miR-4296	CLIP-seq
MIRT1234161	hsa-miR-4322	CLIP-seq
MIRT1234162	hsa-miR-4417	CLIP-seq
MIRT1234163	hsa-miR-4419b	CLIP-seq
MIRT1234164	hsa-miR-4433	CLIP-seq
MIRT1234165	hsa-miR-4471	CLIP-seq
MIRT1234166	hsa-miR-4478	CLIP-seq
MIRT1234167	hsa-miR-4481	CLIP-seq
MIRT1234168	hsa-miR-4646-5p	CLIP-seq
MIRT1234169	hsa-miR-4649-3p	CLIP-seq
MIRT1234170	hsa-miR-4661-3p	CLIP-seq
MIRT1234171	hsa-miR-4684-5p	CLIP-seq
MIRT1234172	hsa-miR-4695-5p	CLIP-seq
MIRT1234173	hsa-miR-4728-5p	CLIP-seq
MIRT1234174	hsa-miR-4731-5p	CLIP-seq
MIRT1234175	hsa-miR-4745-5p	CLIP-seq
MIRT1234176	hsa-miR-485-5p	CLIP-seq
MIRT1234177	hsa-miR-490-3p	CLIP-seq
MIRT1234178	hsa-miR-510	CLIP-seq
MIRT1234179	hsa-miR-512-5p	CLIP-seq
MIRT1234180	hsa-miR-612	CLIP-seq
MIRT1234181	hsa-miR-644	CLIP-seq
MIRT1234182	hsa-miR-651	CLIP-seq
MIRT1234183	hsa-miR-661	CLIP-seq
MIRT1234184	hsa-miR-663b	CLIP-seq
MIRT1234185	hsa-miR-7	CLIP-seq
MIRT1234186	hsa-miR-759	CLIP-seq
MIRT1234138	hsa-miR-1827	CLIP-seq
MIRT2068978	hsa-miR-1910	CLIP-seq
MIRT1234141	hsa-miR-24	CLIP-seq
MIRT2068979	hsa-miR-2467-5p	CLIP-seq
MIRT1234142	hsa-miR-298	CLIP-seq
MIRT2068980	hsa-miR-3065-3p	CLIP-seq
MIRT2068981	hsa-miR-3122	CLIP-seq
MIRT2068982	hsa-miR-3165	CLIP-seq
MIRT1234144	hsa-miR-3178	CLIP-seq
MIRT1234146	hsa-miR-3192	CLIP-seq
MIRT2068983	hsa-miR-342-3p	CLIP-seq
MIRT1234147	hsa-miR-34b	CLIP-seq
MIRT1234149	hsa-miR-3614-5p	CLIP-seq
MIRT2068984	hsa-miR-3656	CLIP-seq
MIRT1234150	hsa-miR-3664-3p	CLIP-seq
MIRT2068985	hsa-miR-3682-5p	CLIP-seq
MIRT1234152	hsa-miR-3689a-3p	CLIP-seq
MIRT1234153	hsa-miR-3689c	CLIP-seq
MIRT2068986	hsa-miR-3913-5p	CLIP-seq
MIRT1234157	hsa-miR-3929	CLIP-seq
MIRT2068987	hsa-miR-3937	CLIP-seq
MIRT1234163	hsa-miR-4419b	CLIP-seq
MIRT1234164	hsa-miR-4433	CLIP-seq
MIRT1234166	hsa-miR-4478	CLIP-seq
MIRT1234167	hsa-miR-4481	CLIP-seq
MIRT1234169	hsa-miR-4649-3p	CLIP-seq
MIRT1234172	hsa-miR-4695-5p	CLIP-seq
MIRT1234173	hsa-miR-4728-5p	CLIP-seq
MIRT1234175	hsa-miR-4745-5p	CLIP-seq
MIRT1234176	hsa-miR-485-5p	CLIP-seq
MIRT2068988	hsa-miR-498	CLIP-seq
MIRT1234178	hsa-miR-510	CLIP-seq
MIRT1234179	hsa-miR-512-5p	CLIP-seq
MIRT1234185	hsa-miR-7	CLIP-seq
MIRT1234136	hsa-miR-1285	CLIP-seq
MIRT1234138	hsa-miR-1827	CLIP-seq
MIRT1234141	hsa-miR-24	CLIP-seq
MIRT2068979	hsa-miR-2467-5p	CLIP-seq
MIRT2295996	hsa-miR-25	CLIP-seq
MIRT1234142	hsa-miR-298	CLIP-seq
MIRT2068981	hsa-miR-3122	CLIP-seq
MIRT1234143	hsa-miR-3125	CLIP-seq
MIRT2068982	hsa-miR-3165	CLIP-seq
MIRT1234145	hsa-miR-3187-5p	CLIP-seq
MIRT1234146	hsa-miR-3192	CLIP-seq
MIRT2295997	hsa-miR-32	CLIP-seq
MIRT1234147	hsa-miR-34b	CLIP-seq
MIRT1234149	hsa-miR-3614-5p	CLIP-seq
MIRT2295998	hsa-miR-363	CLIP-seq
MIRT2068984	hsa-miR-3656	CLIP-seq
MIRT1234150	hsa-miR-3664-3p	CLIP-seq
MIRT2295999	hsa-miR-367	CLIP-seq
MIRT1234152	hsa-miR-3689a-3p	CLIP-seq
MIRT1234153	hsa-miR-3689c	CLIP-seq
MIRT2068986	hsa-miR-3913-5p	CLIP-seq
MIRT1234156	hsa-miR-3916	CLIP-seq
MIRT1234157	hsa-miR-3929	CLIP-seq
MIRT2068987	hsa-miR-3937	CLIP-seq
MIRT1234163	hsa-miR-4419b	CLIP-seq
MIRT1234164	hsa-miR-4433	CLIP-seq
MIRT1234166	hsa-miR-4478	CLIP-seq
MIRT1234169	hsa-miR-4649-3p	CLIP-seq
MIRT1234171	hsa-miR-4684-5p	CLIP-seq
MIRT1234172	hsa-miR-4695-5p	CLIP-seq
MIRT1234173	hsa-miR-4728-5p	CLIP-seq
MIRT2296000	hsa-miR-4793-3p	CLIP-seq
MIRT1234176	hsa-miR-485-5p	CLIP-seq
MIRT1234177	hsa-miR-490-3p	CLIP-seq
MIRT2296001	hsa-miR-508-5p	CLIP-seq
MIRT1234178	hsa-miR-510	CLIP-seq
MIRT1234179	hsa-miR-512-5p	CLIP-seq
MIRT1234180	hsa-miR-612	CLIP-seq
MIRT1234183	hsa-miR-661	CLIP-seq
MIRT1234185	hsa-miR-7	CLIP-seq
MIRT2296002	hsa-miR-766	CLIP-seq
MIRT2296003	hsa-miR-767-5p	CLIP-seq
MIRT2296004	hsa-miR-92a	CLIP-seq
MIRT2296005	hsa-miR-92b	CLIP-seq
MIRT2392525	hsa-miR-4297	CLIP-seq
MIRT2456500	hsa-miR-1225-5p	CLIP-seq
MIRT1234136	hsa-miR-1285	CLIP-seq
MIRT1234138	hsa-miR-1827	CLIP-seq
MIRT1234142	hsa-miR-298	CLIP-seq
MIRT1234143	hsa-miR-3125	CLIP-seq
MIRT1234145	hsa-miR-3187-5p	CLIP-seq
MIRT1234146	hsa-miR-3192	CLIP-seq
MIRT1234147	hsa-miR-34b	CLIP-seq
MIRT1234149	hsa-miR-3614-5p	CLIP-seq
MIRT1234152	hsa-miR-3689a-3p	CLIP-seq
MIRT1234153	hsa-miR-3689c	CLIP-seq
MIRT1234156	hsa-miR-3916	CLIP-seq
MIRT1234171	hsa-miR-4684-5p	CLIP-seq
MIRT1234173	hsa-miR-4728-5p	CLIP-seq
MIRT2296000	hsa-miR-4793-3p	CLIP-seq
MIRT1234177	hsa-miR-490-3p	CLIP-seq
MIRT2296001	hsa-miR-508-5p	CLIP-seq
MIRT1234180	hsa-miR-612	CLIP-seq
MIRT1234183	hsa-miR-661	CLIP-seq
MIRT1234185	hsa-miR-7	CLIP-seq
MIRT2296002	hsa-miR-766	CLIP-seq
MIRT2456500	hsa-miR-1225-5p	CLIP-seq
MIRT1234136	hsa-miR-1285	CLIP-seq
MIRT1234138	hsa-miR-1827	CLIP-seq
MIRT1234141	hsa-miR-24	CLIP-seq
MIRT2068979	hsa-miR-2467-5p	CLIP-seq
MIRT1234142	hsa-miR-298	CLIP-seq
MIRT2068981	hsa-miR-3122	CLIP-seq
MIRT1234143	hsa-miR-3125	CLIP-seq
MIRT2068982	hsa-miR-3165	CLIP-seq
MIRT1234145	hsa-miR-3187-5p	CLIP-seq
MIRT1234146	hsa-miR-3192	CLIP-seq
MIRT1234147	hsa-miR-34b	CLIP-seq
MIRT1234149	hsa-miR-3614-5p	CLIP-seq
MIRT2068984	hsa-miR-3656	CLIP-seq
MIRT1234152	hsa-miR-3689a-3p	CLIP-seq
MIRT1234153	hsa-miR-3689c	CLIP-seq
MIRT2068986	hsa-miR-3913-5p	CLIP-seq
MIRT1234156	hsa-miR-3916	CLIP-seq
MIRT2068987	hsa-miR-3937	CLIP-seq
MIRT1234171	hsa-miR-4684-5p	CLIP-seq
MIRT1234173	hsa-miR-4728-5p	CLIP-seq
MIRT2296000	hsa-miR-4793-3p	CLIP-seq
MIRT1234177	hsa-miR-490-3p	CLIP-seq
MIRT2296001	hsa-miR-508-5p	CLIP-seq
MIRT1234180	hsa-miR-612	CLIP-seq
MIRT1234183	hsa-miR-661	CLIP-seq
MIRT1234185	hsa-miR-7	CLIP-seq
MIRT2296002	hsa-miR-766	CLIP-seq
MIRT2456500	hsa-miR-1225-5p	CLIP-seq
MIRT1234136	hsa-miR-1285	CLIP-seq
MIRT1234138	hsa-miR-1827	CLIP-seq
MIRT1234141	hsa-miR-24	CLIP-seq
MIRT2068979	hsa-miR-2467-5p	CLIP-seq
MIRT1234142	hsa-miR-298	CLIP-seq
MIRT2068981	hsa-miR-3122	CLIP-seq
MIRT1234143	hsa-miR-3125	CLIP-seq
MIRT2068982	hsa-miR-3165	CLIP-seq
MIRT1234145	hsa-miR-3187-5p	CLIP-seq
MIRT1234146	hsa-miR-3192	CLIP-seq
MIRT1234147	hsa-miR-34b	CLIP-seq
MIRT1234149	hsa-miR-3614-5p	CLIP-seq
MIRT2068984	hsa-miR-3656	CLIP-seq
MIRT1234151	hsa-miR-3667-5p	CLIP-seq
MIRT1234152	hsa-miR-3689a-3p	CLIP-seq
MIRT1234153	hsa-miR-3689c	CLIP-seq
MIRT2068986	hsa-miR-3913-5p	CLIP-seq
MIRT1234156	hsa-miR-3916	CLIP-seq
MIRT2068987	hsa-miR-3937	CLIP-seq
MIRT1234164	hsa-miR-4433	CLIP-seq
MIRT1234171	hsa-miR-4684-5p	CLIP-seq
MIRT1234173	hsa-miR-4728-5p	CLIP-seq
MIRT2296000	hsa-miR-4793-3p	CLIP-seq
MIRT1234177	hsa-miR-490-3p	CLIP-seq
MIRT2296001	hsa-miR-508-5p	CLIP-seq
MIRT1234180	hsa-miR-612	CLIP-seq
MIRT1234183	hsa-miR-661	CLIP-seq
MIRT1234185	hsa-miR-7	CLIP-seq
MIRT2296002	hsa-miR-766	CLIP-seq

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Transcription factor	Regulation	Reference
RUNX1	Unknown	19638627

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001779	Process	Natural killer cell differentiation	TAS	20940048
GO:0001819	Process	Positive regulation of cytokine production	TAS	20940048
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IGI	31915155
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	TAS	17290298
GO:0002376	Process	Immune system process	IEA
GO:0002443	Process	Leukocyte mediated immunity	IEA
GO:0002551	Process	Mast cell chemotaxis	TAS	20940048
GO:0002679	Process	Respiratory burst involved in defense response	TAS	20940048
GO:0005515	Function	Protein binding	IPI	21827948, 22020336, 24165795, 28514442, 31031754, 32296183, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	NAS	9113989, 9235916
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	IPI	28108251
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	NAS	20379207
GO:0006468	Process	Protein phosphorylation	NAS	9113989
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	TAS	17290298, 20940048
GO:0006955	Process	Immune response	NAS	27616589
GO:0007165	Process	Signal transduction	NAS	9113989
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IEA
GO:0010595	Process	Positive regulation of endothelial cell migration	IGI	31915155
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22079609
GO:0010818	Process	T cell chemotaxis	TAS	20940048
GO:0016301	Function	Kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IBA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IEA
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	NAS	9235916
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	TAS	17290298
GO:0016477	Process	Cell migration	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0022603	Process	Regulation of anatomical structure morphogenesis	IEA
GO:0030101	Process	Natural killer cell activation	TAS	20940048
GO:0030154	Process	Cell differentiation	IEA
GO:0030183	Process	B cell differentiation	NAS	20200404
GO:0030217	Process	T cell differentiation	NAS	17371229
GO:0030217	Process	T cell differentiation	TAS	20940048
GO:0030335	Process	Positive regulation of cell migration	IMP	22079609
GO:0030593	Process	Neutrophil chemotaxis	TAS	20940048
GO:0031295	Process	T cell costimulation	TAS
GO:0033031	Process	Positive regulation of neutrophil apoptotic process	IEA
GO:0033031	Process	Positive regulation of neutrophil apoptotic process	IMP	25339672
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA
GO:0035747	Process	Natural killer cell chemotaxis	TAS	20940048
GO:0035754	Process	B cell chemotaxis	TAS	20940048
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IBA
GO:0038084	Process	Vascular endothelial growth factor signaling pathway	IGI	31915155
GO:0042110	Process	T cell activation	TAS	20940048
GO:0042113	Process	B cell activation	IEA
GO:0042113	Process	B cell activation	TAS	20940048
GO:0043303	Process	Mast cell degranulation	TAS	20940048
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IGI	31915155
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	25339672
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	17290298
GO:0045087	Process	Innate immune response	IEA
GO:0045087	Process	Innate immune response	TAS	17290298, 20940048
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA
GO:0046934	Function	1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA
GO:0050852	Process	T cell receptor signaling pathway	TAS	20940048
GO:0050853	Process	B cell receptor signaling pathway	TAS	20940048
GO:0051094	Process	Positive regulation of developmental process	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0060374	Process	Mast cell differentiation	TAS	20940048
GO:0072672	Process	Neutrophil extravasation	TAS	20940048
GO:1905278	Process	Positive regulation of epithelial tube formation	IGI	31915155
GO:2000026	Process	Regulation of multicellular organismal development	IEA

MIM	HGNC	e!Ensembl
602839	8977	ENSG00000171608

O00329

Protein name

Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform (PI3-kinase subunit delta) (PI3K-delta) (PI3Kdelta) (PtdIns-3-kinase subunit delta) (EC 2.7.1.137) (EC 2.7.1.153) (Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa cataly

Protein function

Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:9235916). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5

PDB

5DXU , 5M6U , 5T8F , 5UBT , 5VLR , 6G6W , 6OCO , 6OCU , 6PYR , 6PYU , 7JIS , 7LM2 , 7LQ1 , 8BCY , 8S3R , 9GCF , 9GDI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02192	PI3K_p85B	32 → 107	PI3-kinase family, p85-binding domain	Family
PF00794	PI3K_rbd	175 → 281	PI3-kinase family, ras-binding domain	Domain
PF00792	PI3K_C2	337 → 464	Phosphoinositide 3-kinase C2	Domain
PF00613	PI3Ka	499 → 684	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
PF00454	PI3_PI4_kinase	773 → 991	Phosphatidylinositol 3- and 4-kinase	Family

Tissue specificity

TISSUE SPECIFICITY: In humans, the highest levels of expression are seen in peripheral blood mononuclear cells, spleen, and thymus, and low levels of expression in testes, uterus, colon, and small intestine but not in other tissues examined including pros

Sequence

MPPGVDCPMEFWTKEENQSVVVDFLLPTGVYLNFPVSRNANLSTIKQLLWHRAQYEPLFH
MLSGPEAYVFTCINQTAEQQELEDEQRRLCDVQPFLPVLRLVAREGDRVKKLINSQISLL
IGKGLHEFDSLCDPEVNDFRAKMCQFCEEAAARRQQLGWEAWLQYSFPLQLEPSAQTWGP
GTLRLPNRALLVNVKFEGSEESFTFQVSTKDVPLALMACALRKKATVFRQPLVEQPEDYT
LQVNGRHEYLYGSYPLCQFQYICSCLHSGLTPHLTMVHSSSILAMRDEQSNPAPQVQKPR
AKPPPIPAKKPSSVSLWSLEQPFRIELIQGSKVNADERMKLVVQAGLFHGNEMLCKTVSS
SEVSVCSEPVWKQRLEFDINICDLPRMARLCFALYAVIEKAKKARSTKKKSKKADCPIAW
ANLMLFDYKDQLKTGERCLYMWPSVPDEKGELLNPTGTVRSNPNTDSAAALLICLPEVAP
HPVYYPALEKILELGRHSECVHVTEEEQLQLREILERRGSGELYEHEKDLVWKLRHEVQE
HFPEALARLLLVTKWNKHEDVAQMLYLLCSWPELPVLSALELLDFSFPDCHVGSFAIKSL
RKLTDDELFQYLLQLVQVLKYESYLDCELTKFLLDRALANRKIGHFLFWHLRSEMHVPSV
ALRFGLILEAYCRGSTHHMKVLMKQGEALSKLKALNDFVKLSSQKTPKPQTKELMHLCMR
QEAYLEALSHLQSPLDPSTLLAEVCVEQCTFMDSKMKPLWIMYSNEEAGSGGSVGIIFKN
GDDLRQDMLTLQMIQLMDVLWKQEGLDLRMTPYGCLPTGDRTGLIEVVLRSDTIANIQLN
KSNMAATAAFNKDALLNWLKSKNPGEALDRAIEEFTLSCAGYCVATYVLGIGDRHSDNIM
IRESGQLFHIDFGHFLGNFKTKFGINRERVPFILTYDFVHVIQQGKTNNSEKFERFRGYC
ERAYTILRRHGLLFLHLFALMRAAGLPELSCSKDIQYLKDSLALGKTEEEALKHFRVKFN
EALRESWKTKVNWLAHNVSKDNRQ

Sequence length

1044

Interactions

View interactions

915

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the immune system	Likely pathogenic	rs1557669079	RCV001580541
Combined immunodeficiency with faciooculoskeletal anomalies	Pathogenic	rs2100976217, rs397518423	RCV002246350 RCV003224135
Immunodeficiency 14	Likely pathogenic; Pathogenic	rs28730670, rs587777389, rs587777390, rs2100954945, rs2100954909, rs2524811532, rs1064795762, rs1557669079, rs397518423	RCV000119275 RCV000119276 RCV000119277 RCV001953888 RCV001916035 RCV003583619 RCV001227774 RCV000706607 RCV000701558 RCV000076908
Immunodeficiency 14b, autosomal recessive	Pathogenic; Likely pathogenic	rs2100956273, rs2100990445, rs2524804604, rs2524805817, rs397518423	RCV001374740 RCV001374741 RCV003333529 RCV004560507 RCV003224135
Inherited Immunodeficiency Diseases	Pathogenic	rs397518423	RCV001027610
Moyamoya angiopathy	Likely pathogenic	rs1648809005	RCV004704491
PIK3CD-related disorder	Pathogenic	rs587777389	RCV004745195

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Activated PI3K-delta syndrome	Uncertain significance; Likely benign	rs969868296, rs966409603, rs1648966090, rs749687214, rs761356083, rs140820694, rs749871179, rs1647973216, rs370509251, rs761349863, rs1293688309, rs1414657892, rs1570385752, rs964857770, rs143068130 View all (11 more)	RCV004812405 RCV005213528 RCV005629863 RCV005410932 RCV005213531 RCV004801940 RCV001795553 RCV005410945 RCV005415478 RCV005254671 RCV004813226 RCV004801944 RCV005254863 RCV005254866 RCV004813102 RCV005253025 RCV004813140 RCV004801925 RCV004801926 RCV005629860 RCV005629859 RCV005253748 RCV005235533 RCV005410929 RCV004801933 RCV004812390
Acute myeloid leukemia	Benign	rs113176101	RCV005896976
Cervical cancer	Benign	rs140468930	RCV005896965
Clear cell carcinoma of kidney	Benign	rs140468930	RCV005896967
Familial cancer of breast	Benign	rs140468930	RCV005896962
Familial pancreatic carcinoma	Benign	rs140468930	RCV005896968
Gastric cancer	Benign	rs140468930	RCV005896971
Hepatocellular carcinoma	Benign	rs140468930	RCV005896963
Malignant lymphoma, large B-cell, diffuse	Benign	rs140468930	RCV005896969
Malignant tumor of esophagus	Benign	rs140468930	RCV005896964
Melanoma	Benign	rs140468930	RCV005896975
Ovarian cancer	Benign	rs140468930	RCV005896966
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign	rs755673082, rs2524811174, rs140468930	RCV005931487 RCV005934655 RCV005896972
Sarcoma	Benign	rs140468930	RCV005896970
See cases	Likely benign; Uncertain significance	rs557471275, rs780269932	RCV002252193 RCV002252292
Thymoma	Benign	rs140468930	RCV005896973
Thyroid cancer, nonmedullary, 1	Benign	rs140468930	RCV005896974
Uterine corpus endometrial carcinoma	Uncertain significance	rs1648958091	RCV005909286
Uveal melanoma	Benign	rs113176101	RCV005896977

Show/Hide Text Mining Associations (183)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Pain	Associate	38287413
Activated PI3K delta Syndrome	Associate	24136356, 39253077
Acute Disease	Associate	38287413
Adenocarcinoma	Associate	39739112
Adenocarcinoma of Lung	Associate	36919755, 38508329, 39346927
Adenomyosis	Associate	30365102
Agammaglobulinemia	Associate	35080319
Airway Obstruction	Associate	24136356
Allergic Fungal Sinusitis	Associate	30375439
Alzheimer Disease	Associate	29229897
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Associate	38287413
Arthritis Rheumatoid	Associate	15642134, 24716596
Asthma	Associate	27716212, 34352450
Ataxia Telangiectasia	Associate	19500021
Atrial Fibrillation	Associate	36274100
Autism Spectrum Disorder	Associate	26770665
Autistic Disorder	Associate	26770665
Beckwith Wiedemann Syndrome	Associate	35507738
Breast Neoplasms	Associate	16859513, 18454859, 19133120, 20650008, 21946274, 26840401, 28550065, 28750640, 28985022, 30140695, 35037412, 38553373, 38564162, 39300116, 39738797, 39769193, 40038752 View all (2 more)
Bruton type agammaglobulinemia	Associate	25133419
Burkitt Lymphoma	Associate	22241218, 30779244, 40021103
Cakut	Associate	39237660
Carcinogenesis	Associate	31838203, 39372720
Carcinoma Adenoid Cystic	Associate	40107325
Carcinoma Hepatocellular	Associate	24482231, 25980493, 28456666, 29962817, 31203308, 33816616, 39183055
Carcinoma Non Small Cell Lung	Associate	30535430, 33121309, 39258670
Carcinoma Pancreatic Ductal	Associate	35457111, 35810469
Carcinoma Renal Cell	Associate	27387559, 28049139, 36852468, 37095531, 38588851, 39233640, 39910585, 40081509
Carcinoma Squamous Cell	Associate	33506299
Cardiomyopathy Hypertrophic	Associate	24716596
Cardiovascular Diseases	Associate	34732130
Cerebral Hemorrhage	Associate	30836997
Cholangiocarcinoma	Associate	39803868
Cholangitis Sclerosing	Associate	25352054
Chondrosarcoma	Associate	24472657
Cognition Disorders	Associate	28050343
Colonic Polyps	Associate	38287413
Colorectal Neoplasms	Associate	21430067, 23743569, 24709422, 37790614, 40004112, 40075273
Colorectal Neoplasms	Stimulate	30618098
Common Variable Immunodeficiency	Associate	26081581, 26437962, 30723478, 35159274, 35990641, 40703516
Communicable Diseases	Associate	34173009
Corneal Dystrophy Crystalline of Schnyder	Associate	16163269
COVID 19	Associate	39684661
Cytomegalovirus Infections	Associate	24165795, 29563914, 31045771, 38287413
Developmental Disabilities	Associate	31211828
Diabetes Gestational	Stimulate	24549598
Diabetes Mellitus	Associate	39848169
Diabetic Retinopathy	Associate	39348384
Diarrhea	Associate	38287413
Drug Related Side Effects and Adverse Reactions	Associate	20622048, 21803746, 29442453, 36913051
Endocrine Gland Neoplasms	Associate	37670888
Endocrine System Diseases	Associate	28985022, 37670888
Endometrial Neoplasms	Associate	25624430
Epiretinal Membrane	Associate	38307209
Epstein Barr Virus Infections	Associate	24610295, 29200144, 31045771, 31537641, 35021606, 37420238, 38287413
Esophageal Neoplasms	Associate	22919244, 28899457, 30942438
Esophageal Squamous Cell Carcinoma	Associate	39596630
Evans Syndrome	Associate	30940614
Fetal Growth Retardation	Associate	39929058
Fever	Associate	37475052
Fibrosis	Associate	38307209
Focal Nodular Hyperplasia	Associate	24165795
Glioblastoma	Associate	15605984, 25084455, 25501707, 26299938, 30132519, 32705169
Glioma	Associate	24771584, 38569452, 39684661
Glucose Intolerance	Stimulate	24549598
Granulomatosis with Polyangiitis	Associate	33995405
Graves Ophthalmopathy	Stimulate	39619202
Head and Neck Neoplasms	Associate	34681918, 39695576
Hemangioma capillary infantile	Associate	39286286
Hematologic Neoplasms	Associate	31601188
Hemolytic Uremic Syndrome	Associate	36033826
Hepatitis D	Associate	26437962, 31031754, 32961022, 35080319, 37475052
Hepatitis D	Stimulate	29563914
Hepatoblastoma	Associate	21972944, 35507738
HIV Infections	Associate	30792481
Hodgkin Disease	Associate	22210877
Humoral Hypercalcemia Of Malignancy	Associate	29563914
Hyper IgM Immunodeficiency Syndrome	Associate	24610295
Hyperplasia	Associate	24716596
Hypersensitivity Immediate	Associate	31760094
Hypoxia	Stimulate	25860915
Hypoxia	Associate	26882567
Immune System Diseases	Associate	25133419, 35080319, 35687490, 39236673
Immunologic Deficiency Syndromes	Associate	24932921, 25133419, 25488983, 26437962, 28167755, 29200144, 31031754, 34975878, 37475052
Infections	Associate	37475052
Inflammation	Associate	24549598, 27716212, 30375439, 39619202, 39770133
Intervertebral disc disease	Associate	35767190
Intussusception	Associate	38287413
Kashin Beck Disease	Associate	29514696
Klatskin Tumor	Associate	20145951
Laryngeal Neoplasms	Associate	36033826
Leukemia	Associate	23892273, 34467417
Leukemia Biphenotypic Acute	Associate	25313141
Leukemia Large Granular Lymphocytic	Associate	33786584
Leukemia Lymphocytic Chronic B Cell	Associate	20622048, 21378270, 21803855, 23238639, 25313141, 26540567, 29479062, 30287523, 33259589, 33684943, 34467417
Leukemia Lymphoma Adult T Cell	Associate	37832654
Leukemia Myeloid Acute	Associate	15840695, 23955073, 24850755, 39867885, 39898241
Leukemia Prolymphocytic T Cell	Associate	30873593, 31821686
Leukemia Promyelocytic Acute	Associate	19176369
Leukemia T Cell	Associate	15287952
Lung Injury	Associate	31995399
Lung Neoplasms	Associate	19937138, 24757411, 29864375, 32005795
Lupus Erythematosus Systemic	Associate	21810603, 31045771, 32443356
Lymphatic Diseases	Associate	24165795, 25488983, 29200144, 31031754, 31045771, 37475052
Lymphatic Metastasis	Stimulate	33229445
Lymphedema	Associate	33964933
Lymphoma	Associate	23676220, 35687490
Lymphoma B Cell	Associate	29479062, 30287523
Lymphoma B Cell Marginal Zone	Associate	29674500, 35484662
Lymphoma Follicular	Associate	32898249
Lymphoma Large B Cell Diffuse	Associate	23292937, 24418330
Lymphoma Mantle Cell	Associate	23341541, 23676220
Lymphoma Non Hodgkin	Associate	35990641, 40107325
Lymphoma T Cell	Associate	28122867
Lymphopenia	Associate	29200144, 34352450
Lymphoproliferative Disorders	Associate	24610295, 31537641, 36254040
Meningococcal Infections	Associate	36033826
Mesothelioma Malignant	Associate	28389374
Mevalonate Kinase Deficiency	Associate	38636615
Mouth Neoplasms	Associate	39201464
Multiple Myeloma	Associate	12010818, 18635812, 22985491, 36053135
Multiple Pterygium Syndrome Autosomal Dominant	Associate	26437962
Myelodysplastic Syndromes	Associate	30787430
Myocardial Infarction	Stimulate	34275376
Myotonic Dystrophy	Associate	39529136
Nasal Polyps	Associate	30375439
Nasopharyngeal Carcinoma	Associate	36347827, 38518731
Neoplasm Metastasis	Inhibit	21098703
Neoplasm Metastasis	Associate	25171776, 39709424
Neoplasms	Associate	14655756, 19875696, 19996456, 20498635, 21804599, 22159814, 23029544, 23300274, 23892273, 24610295, 24928944, 29343273, 29426295, 29893306, 30618098 View all (23 more)
Neoplasms	Inhibit	19202062
Neuroblastoma	Associate	18281552, 23378341
Neurocytoma	Associate	38609519
Neuroinflammatory Diseases	Associate	30836997
Neurotoxicity Syndromes	Associate	26621341, 33922144
Non alcoholic Fatty Liver Disease	Associate	39183055
Osteoarthritis	Associate	22662110, 31886215
Osteoporosis	Stimulate	40080935
Ovarian Diseases	Associate	27189378, 38321265
Ovarian Neoplasms	Associate	20607860, 21970855, 38583177
Pancreatic Neoplasms	Associate	20630061, 38520747, 40696332
Pancreatitis	Associate	36218109
Periodontitis	Associate	39904707
Personality Disorders	Associate	19133120
Plasmablastic Lymphoma	Associate	34992612
Polycystic Ovary Syndrome	Associate	33485372, 39253602, 39284759
Post Infectious Disorders	Associate	32720595
Precancerous Conditions	Associate	40004462
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	27461063, 28424165
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	25313141
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	16115127, 27174919, 33467550
Primary Immunodeficiency Diseases	Associate	24136356, 25352054, 26437962, 30723478, 30940614, 35660815, 38287413
Prostatic Neoplasms	Associate	12738789, 20231295, 21048307, 21134280, 37670888, 40011853
Pulmonary Disease Chronic Obstructive	Stimulate	20381852
Pulmonary Disease Chronic Obstructive	Associate	29313708
Pulmonary edema of mountaineers	Associate	30053909
Respiratory Tract Infections	Associate	24136356, 29200144, 35080319
Retinal Diseases	Associate	38307209
Retinoblastoma	Associate	31483776
Sarcoma	Associate	33762319
Sarcoma Ewing	Associate	24517182
Schizophrenia	Associate	26770665, 31211828, 31959813
Scleroderma Systemic	Associate	17524560
Severe Combined Immunodeficiency	Associate	25133419, 31045771, 37475052
Squamous Cell Carcinoma of Head and Neck	Associate	23847349, 24599075, 26025965, 27681865, 31894857, 32555190, 35417043, 35644410
Status Asthmaticus	Associate	22556157
Stomach Neoplasms	Associate	24837198, 31974627, 32034058, 36438913, 39394072
Syndrome	Associate	31045771, 39620215
Syndrome	Stimulate	31760094
Thyroid Cancer Papillary	Associate	19500021, 39333272
Thyroid Neoplasms	Associate	28393241, 34911834
Tongue Neoplasms	Associate	32236620
Triple Negative Breast Neoplasms	Associate	28160548, 36269860
Tuberous Sclerosis	Associate	12867426
Urinary Bladder Neoplasms	Associate	19875696
Uterine Cervical Neoplasms	Associate	29516642, 38561035, 39206910, 39273054, 39372720, 39511266
Uveal melanoma	Associate	30338785
Vasculitis	Associate	38287413
Viremia	Associate	24165795, 31031754
Visceral Pain	Associate	40077792
Vitreoretinopathy Proliferative	Associate	36672142
X Linked Combined Immunodeficiency Diseases	Associate	26437962
Young Syndrome	Associate	24165795, 25352054, 25488983, 31045771

PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta)