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: 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:0001779	Process	Natural killer cell differentiation	TAS	20940048
GO:0001816	Process	Cytokine production	TAS	20940048
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IGI	31915155
GO:0002250	Process	Adaptive immune response	TAS	17290298
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
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA	21873635
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	NAS	9113989, 9235916
GO:0006468	Process	Protein phosphorylation	NAS	9113989
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006954	Process	Inflammatory response	TAS	17290298, 20940048
GO:0007165	Process	Signal transduction	NAS	9113989
GO:0007411	Process	Axon guidance	TAS
GO:0010595	Process	Positive regulation of endothelial cell migration	IGI	31915155
GO:0010628	Process	Positive regulation of gene expression	IMP	22079609
GO:0010818	Process	T cell chemotaxis	TAS	20940048
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IBA	21873635
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IGI	31915155
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IMP	25339672
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	TAS	17290298
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS
GO:0016020	Component	Membrane	IBA	21873635
GO:0016301	Function	Kinase activity	IDA	25327288
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IBA	21873635
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	NAS	9235916
GO:0016310	Process	Phosphorylation	IDA	25327288
GO:0016477	Process	Cell migration	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030101	Process	Natural killer cell activation	TAS	20940048
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:0033031	Process	Positive regulation of neutrophil apoptotic process	IMP	25339672
GO:0035004	Function	Phosphatidylinositol 3-kinase activity	TAS	17290298
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA	21873635
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	21873635
GO:0038089	Process	Positive regulation of cell migration by vascular endothelial growth factor signaling pathway	IGI	31915155
GO:0042110	Process	T cell activation	TAS	20940048
GO:0042113	Process	B cell activation	TAS	20940048
GO:0043303	Process	Mast cell degranulation	TAS	20940048
GO:0045087	Process	Innate immune response	TAS	17290298, 20940048
GO:0045766	Process	Positive regulation of angiogenesis	ISS
GO:0046854	Process	Phosphatidylinositol phosphorylation	IBA	21873635
GO:0046934	Function	Phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA	21873635
GO:0050852	Process	T cell receptor signaling pathway	TAS	20940048
GO:0050853	Process	B cell receptor signaling pathway	TAS	20940048
GO:0051897	Process	Positive regulation of protein kinase B signaling	IGI	31915155
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0052742	Function	Phosphatidylinositol kinase activity	IBA	21873635
GO:0052812	Function	Phosphatidylinositol-3,4-bisphosphate 5-kinase activity	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

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

• Sequence:

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

• Sequence length: 1044

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
Platinum drug resistance
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Phosphatidylinositol signaling system
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Apoptosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Cellular senescence
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
Focal adhesion
Signaling pathways regulating pluripotency of stem cells
Platelet activation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
TNF signaling pathway
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Cholinergic synapse
Inflammatory mediator regulation of TRP channels
Regulation of actin cytoskeleton
Insulin signaling pathway
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Prolactin signaling pathway
Thyroid hormone signaling pathway
Regulation of lipolysis in adipocytes
Relaxin signaling pathway
GnRH secretion
Type II diabetes mellitus
Insulin resistance
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Carbohydrate digestion and absorption
Alzheimer disease
Spinocerebellar ataxia
Prion disease
Bacterial invasion of epithelial cells
Shigellosis
Salmonella infection
Yersinia infection
Chagas disease
Amoebiasis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Melanoma
Chronic myeloid leukemia
Acute myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis

Reactome:

PIP3 activates AKT signaling
Synthesis of PIPs at the plasma membrane
Constitutive Signaling by Aberrant PI3K in Cancer
Interleukin-3, Interleukin-5 and GM-CSF signaling
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
RET signaling
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
Interleukin receptor SHC signaling
Regulation of signaling by CBL
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	25918132
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425	29556229
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	21173233
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17199135
Severe combined immunodeficiency disease	Combined immunodeficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	24136356

Unknown
Disease name	Disease term	dbSNP ID	References
Activated pi3k-delta syndrome	ACTIVATED PI3K-DELTA SYNDROME	rs143068130, rs755043940, rs557471275, rs148059720, rs141200414, rs369430343, rs370932461, rs141981005, rs762818071	24136356, 26732860, 16984281, 24610295, 24165795, 25352054, 26437962, 29556229
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Malignant lymphoma, lymphocytic, intermediate differentiation	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse		23676220
Lymphoma, lymphocytic, intermediate	Lymphoma, Lymphocytic, Intermediate		23676220
Prostatic neoplasms	Prostatic Neoplasms		17199135
Roifman-chitayat syndrome	Roifman-Chitayat Syndrome, Combined immunodeficiency with faciooculoskeletal anomalies	rs11121484	29180244
Testicular germ cell tumor	Testicular Germ Cell Tumor		28604728