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

Gene

• Entrez ID: 5293
• Gene name: Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
• Gene symbol: PIK3CD
• Synonyms (NCBI Gene): APDS, IMD14, IMD14A, IMD14B, P110DELTA, PI3K, ROCHIS, p110D
• 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

SNPs

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

miRNA

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 assay, qRT-PCR, Western blot	23486085
MIRT007097	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23486085
MIRT047463	hsa-miR-10b-5p	CLASH	23622248
MIRT053622	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23160634
MIRT054421	hsa-miR-663a	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24523440
MIRT054421	hsa-miR-663a	Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24523440
MIRT053622	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24517182
MIRT053622	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	24517182
MIRT006777	hsa-miR-7-5p	qRT-PCR, Western blot	27391479
MIRT735307	hsa-miR-30b-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, In situ hybridization, ELISA	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

Transcription factors

Transcription factor	Regulation	Reference
RUNX1	Unknown	19638627

Gene ontology (GO)

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

Other IDs

• MIM: 602839
• HGNC: 8977
• e!Ensembl: ENSG00000171608

Protein

• UniProt ID: 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the immune system	Likely pathogenic	rs1557669079	RCV001580541	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency with faciooculoskeletal anomalies	Pathogenic	rs2100976217, rs397518423	RCV002246350 RCV003224135	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 14	Likely pathogenic; Pathogenic	rs28730670, rs587777389, rs587777390, rs2100954945, rs2100954909, rs2524811532, rs1064795762, rs1557669079, rs397518423	RCV000119275 RCV000119276 RCV000119277 RCV001953888 RCV001916035 RCV003583619 RCV001227774 RCV000706607 RCV000701558 RCV000076908	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency 14b, autosomal recessive	Pathogenic; Likely pathogenic	rs2100956273, rs2100990445, rs2524804604, rs2524805817, rs397518423	RCV001374740 RCV001374741 RCV003333529 RCV004560507 RCV003224135	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases	Pathogenic	rs397518423	RCV001027610	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moyamoya angiopathy	Likely pathogenic	rs1648809005	RCV004704491	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIK3CD-related disorder	Pathogenic	rs587777389	RCV004745195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Activated PI3K-delta syndrome	Uncertain significance; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL NON-SYNDROMIC AGAMMAGLOBULINEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY WITH FACIO-OCULO-SKELETAL ANOMALIES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROIFMAN-CHITAYAT SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations