MultifacetedProtDB - Bologna Biocomputing Group

EC number	EC number description
2.7.1.137	Transferases; Transferring phosphorus-containing groups; Phosphotransferases with an alcohol group as acceptor; phosphatidylinositol 3-kinase
2.7.1.153	Transferases; Transferring phosphorus-containing groups; Phosphotransferases with an alcohol group as acceptor; phosphatidylinositol-4,5-bisphosphate 3-kinase
2.7.11.1	Transferases; Transferring phosphorus-containing groups; Protein-serine/threonine kinases; non-specific serine/threonine protein kinase

Structure

PDB	Resolution (Å)	PDB name
2ENQ		Solution structure of the C2 domain from human PI3-kinase p110 subunit alpha
2RD0	3.05	Structure of a human p110alpha/p85alpha complex
3HHM	2.8	Crystal structure of p110alpha H1047R mutant in complex with niSH2 of p85alpha and the drug wortmannin
3HIZ	3.3	Crystal structure of p110alpha H1047R mutant in complex with niSH2 of p85alpha
3ZIM	2.85	Discovery of a potent and isoform-selective targeted covalent inhibitor of the lipid kinase PI3Kalpha
4JPS	2.2	Co-crystal Structures of the Lipid Kinase PI3K alpha with Pan and Isoform Selective Inhibitors
4L1B	2.586	Crystal Structure of p110alpha complexed with niSH2 of p85alpha
4L23	2.501	Crystal Structure of p110alpha complexed with niSH2 of p85alpha and PI-103
4L2Y	2.8	Crystal Structure of p110alpha complexed with niSH2 of p85alpha and compound 9d
4OVU	2.96	Crystal Structure of p110alpha in complex with niSH2 of p85alpha
4OVV	3.5	Crystal Structure of PI3Kalpha in complex with diC4-PIP2
4TUU	2.64	Isolated p110a subunit of PI3Ka provides a platform for structure-based drug design
4TV3	2.85	Isolated p110a subunit of PI3Ka provides a platform for structure-based drug design
4WAF	2.39	Crystal Structure of a novel tetrahydropyrazolo[1,5-a]pyrazine in an engineered PI3K alpha
4YKN	2.9	Pi3K alpha lipid kinase with Active Site Inhibitor
4ZOP	2.62	Co-crystal Structure of Lipid Kinase PI3K alpha with a selective phosphatidylinositol-3 kinase alpha inhibitor
5DXH	3.0	p110alpha/p85alpha with compound 5
5DXT	2.25	p110alpha with GDC-0326
5FI4	2.5	Discovery of imidazo[1,2-a]-pyridine inhibitors of pan-PI3 kinases that are efficacious in a mouse xenograft model
5ITD	3.02	Crystal structure of PI3K alpha with PI3K delta inhibitor
5SW8	3.3	Crystal structure of PI3Kalpha in complex with fragments 7 and 11
5SWG	3.11	Crystal Structure of PI3Kalpha in complex with fragments 5 and 21
5SWO	3.5	Crystal Structure of PI3Kalpha in complex with fragments 4 and 19
5SWP	3.41	Crystal Structure of PI3Kalpha in complex with fragments 6 and 24
5SWR	3.31	Crystal Structure of PI3Kalpha in complex with fragments 20 and 26
5SWT	3.49	Crystal Structure of PI3Kalpha in complex with fragments 17 and 27
5SX8	3.47	Crystal Structure of PI3Kalpha in complex with fragments 12 and 15
5SX9	3.52	Crystal Structure of PI3Kalpha in complex with fragment 14
5SXA	3.35	Crystal Structure of PI3Kalpha in complex with fragment 10
5SXB	3.3	Crystal Structure of PI3Kalpha in complex with fragment 23
5SXC	3.55	Crystal Structure of PI3Kalpha in complex with fragment 8
5SXD	3.5	Crystal Structure of PI3Kalpha in complex with fragment 22
5SXE	3.51	Crystal Structure of PI3Kalpha in complex with fragments 19 and 28
5SXF	3.46	Crystal Structure of PI3Kalpha in complex with fragment 9
5SXI	3.4	Crystal Structure of PI3Kalpha in complex with fragment 13
5SXJ	3.42	Crystal Structure of PI3Kalpha in complex with fragment 29
5SXK	3.55	Crystal Structure of PI3Kalpha in complex with fragment 18
5UBR	2.4	CRYSTAL STRUCTURE OF PI3K ALPHA IN COMPLEX WITH A 7-(3-(PIPERAZIN-1-YL)PHENYL)PYRROLO[2,1-F][1,2,4] TRIAZIN-4-AMINE DERIVIATINE
5UK8	2.5	The co-structure of (R)-4-(6-(1-(cyclopropylsulfonyl)cyclopropyl)-2-(1H-indol-4-yl)pyrimidin-4-yl)-3-methylmorpholine and a rationally designed PI3K-alpha mutant that mimics ATR
5UKJ	2.8	The co-structure of N,N-dimethyl-4-[(6R)-6-methyl-5-(1H-pyrrolo[2,3- b]pyridin-4-yl)-4,5,6,7-tetrahydropyrazolo[1,5- a]pyrazin-3-yl]benzenesulfonamide and a rationally designed PI3K-alpha mutant that mimics ATR
5UL1	3.0	The co-structure of 3-amino-6-(4-((1-(dimethylamino)propan-2-yl)sulfonyl)phenyl)-N-phenylpyrazine-2-carboxamide and a rationally designed PI3K-alpha mutant that mimics ATR
5XGH	2.97	Crystal structure of PI3K complex with an inhibitor
5XGI	2.56	Crystal structure of PI3K complex with an inhibitor
5XGJ	2.97	Crystal structure of PI3K complex with an inhibitor
6GVF	2.5	Crystal structure of PI3K alpha in complex with 3-(2-Amino-benzooxazol-5-yl)-1-isopropyl-1H-pyrazolo[3,4-d]pyrimidin-4-ylamine
6GVG	3.0	Crystal structure of PI3K alpha in complex with 3-(2-Amino-benzooxazol-5-yl)-1-isopropyl-4-methyl-1H-pyrazolo[3,4-d]pyrimidin-6-ylamine
6GVH	2.74	Crystal structure of PI3K alpha in complex with 3-(2-Amino-benzooxazol-5-yl)-4-chloro-1-isopropyl-1H-pyrazolo[3,4-d]pyrimidin-6-ylamine
6GVI	2.9	Crystal structure of PI3K alpha in complex with 3-(2-Amino-benzooxazol-5-yl)-1-isopropyl-1H-pyrazolo[3,4-d]pyrimidine-4,6-diamine
6NCT	3.35	Structure of p110alpha/niSH2 - vector data collection
6OAC	3.15	PQR530 [(S)-4-(Difluoromethyl)-5-(4-(3-methylmorpholino)-6-morpholino-1,3,5-triazin-2-yl)pyridin-2-amine] bound to the PI3Ka catalytic subunit p110alpha
6PYS	2.19	Human PI3Kalpha in complex with Compound 2-10 ((3S)-3-benzyl-3-methyl-5-[5-(2-methylpyrimidin-5-yl)pyrazolo[1,5-a]pyrimidin-3-yl]-1,3-dihydro-2H-indol-2-one)
6VO7	2.31	Crystal structure of PI3K-alpha Ras Binding Domain (RBD)
7JIU	2.12	HUMAN PI3KDELTA IN COMPLEX WITH COMPOUND 2F
7K6M	2.413	Crystal structure of PI3Kalpha selective Inhibitor PF-06843195
7K6N	2.77	Crystal structure of PI3Kalpha selective Inhibitor 11-1575
7K6O	2.738	Crystal structure of PI3Kalpha inhibitor 10-5429
7K71	2.9	Crystal structure of PI3Kalpha inhibitor 4-0686
7L1B	2.04	Crystal structure of HLA-A*03:01 in complex with a wild-type PIK3CA peptide
7L1C	1.96	Crystal structure of HLA-A*03:01 in complex with a mutant PIK3CA peptide
7L1D	3.11	Crystal structure of human 21LT2-2 TCR bound to HLA-A*03:01 in complex with a mutant PIK3CA peptide
7MLK	2.91	Crystal structure of human PI3Ka (p110a subunit) with MMV085400 bound to the active site determined at 2.9 angstroms resolution
7MYN	2.79	Cryo-EM Structure of p110alpha in complex with p85alpha
7MYO	2.92	Cryo-EM structure of p110alpha in complex with p85alpha inhibited by BYL-719
7PG5	2.20029	Crystal Structure of PI3Kalpha
7PG6	2.49944	Crystal Structure of PI3Kalpha in complex with the inhibitor NVP-BYL719
7R9V	2.69	Structure of PIK3CA with covalent inhibitor 19
7R9Y	2.85	Structure of PIK3CA with covalent inhibitor 22
7RRG	2.12	Crystal structure of human 0606T1-2 TCR bound to HLA-A*03:01 in complex with a mutant PIK3CA peptide
7TZ7	2.41	PI3K alpha in complex with an inhibitor
8BFU	2.41	Crystal structure of the apo p110alpha catalytic subunit from homo sapiens
8BFV
8DCP	2.41	PI 3-kinase alpha with nanobody 3-126
8DCX	2.8	PI 3-kinase alpha with nanobody 3-159
8DD4	3.1	PI 3-kinase alpha with nanobody 3-142
8DD8	3.4	PI 3-kinase alpha with nanobody 3-142, crosslinked with DSG
8EXL	1.989	Crystal structure of PI3K-alpha in complex with taselisib
8EXO	2.46	Crystal structure of PI3K-alpha in complex with compound 19
8EXU	2.68	Crystal structure of PI3K-alpha in complex with compound 30
8EXV	2.48	Crystal structure of PI3K-alpha in complex with compound 32
8GUA	2.77	Cryo-EM structure of cancer-specific PI3Kalpha mutant E542K in complex with BYL-719
8GUB	2.73	Cryo-EM structure of cancer-specific PI3Kalpha mutant H1047R in complex with BYL-719
8GUD	2.62	Cryo-EM structure of cancer-specific PI3Kalpha mutant E545K in complex with BYL-719

GO term

GO ontology	GO term	GO description
Biological Process	GO:0031295	T cell costimulation
Biological Process	GO:0050852	T cell receptor signaling pathway
Biological Process	GO:0030036	actin cytoskeleton organization
Biological Process	GO:0060612	adipose tissue development
Biological Process	GO:0001525	angiogenesis
Biological Process	GO:0043276	anoikis
Biological Process	GO:0086003	cardiac muscle cell contraction
Biological Process	GO:0060048	cardiac muscle contraction
Biological Process	GO:0016477	cell migration
Biological Process	GO:0071333	cellular response to glucose stimulus
Biological Process	GO:0071464	cellular response to hydrostatic pressure
Biological Process	GO:0043542	endothelial cell migration
Biological Process	GO:0097009	energy homeostasis
Biological Process	GO:0007173	epidermal growth factor receptor signaling pathway
Biological Process	GO:0006006	glucose metabolic process
Biological Process	GO:0038028	insulin receptor signaling pathway via phosphatidylinositol 3-kinase
Biological Process	GO:0048009	insulin-like growth factor receptor signaling pathway
Biological Process	GO:0001889	liver development
Biological Process	GO:0030835	negative regulation of actin filament depolymerization
Biological Process	GO:2000811	negative regulation of anoikis
Biological Process	GO:2000270	negative regulation of fibroblast apoptotic process
Biological Process	GO:0010629	negative regulation of gene expression
Biological Process	GO:0016242	negative regulation of macroautophagy
Biological Process	GO:0043524	negative regulation of neuron apoptotic process
Biological Process	GO:0006909	phagocytosis
Biological Process	GO:0014065	phosphatidylinositol 3-kinase signaling
Biological Process	GO:0046854	phosphatidylinositol phosphate biosynthetic process
Biological Process	GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process
Biological Process	GO:0016310	phosphorylation
Biological Process	GO:0030168	platelet activation
Biological Process	GO:0032008	positive regulation of TOR signaling
Biological Process	GO:0044029	positive regulation of gene expression via CpG island demethylation
Biological Process	GO:0010592	positive regulation of lamellipodium assembly
Biological Process	GO:0033138	positive regulation of peptidyl-serine phosphorylation
Biological Process	GO:0051897	positive regulation of protein kinase B signaling
Biological Process	GO:0048661	positive regulation of smooth muscle cell proliferation
Biological Process	GO:0043491	protein kinase B signaling
Biological Process	GO:0110053	regulation of actin filament organization
Biological Process	GO:0043457	regulation of cellular respiration
Biological Process	GO:2000653	regulation of genetic imprinting
Biological Process	GO:0040014	regulation of multicellular organism growth
Biological Process	GO:0055119	relaxation of cardiac muscle
Biological Process	GO:0014823	response to activity
Biological Process	GO:1903544	response to butyrate
Biological Process	GO:0071548	response to dexamethasone
Biological Process	GO:0043201	response to leucine
Biological Process	GO:0014870	response to muscle inactivity
Biological Process	GO:0035994	response to muscle stretch
Biological Process	GO:0038084	vascular endothelial growth factor signaling pathway
Biological Process	GO:0001944	vasculature development
Molecular Function	GO:0016303	1-phosphatidylinositol-3-kinase activity
Molecular Function	GO:0035005	1-phosphatidylinositol-4-phosphate 3-kinase activity
Molecular Function	GO:0005524	ATP binding
Molecular Function	GO:0043560	insulin receptor substrate binding
Molecular Function	GO:0016301	kinase activity
Molecular Function	GO:0035004	phosphatidylinositol 3-kinase activity
Molecular Function	GO:0052812	phosphatidylinositol-3,4-bisphosphate 5-kinase activity
Molecular Function	GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity
Molecular Function	GO:0106310	protein serine kinase activity
Molecular Function	GO:0043539	protein serine/threonine kinase activator activity
Molecular Function	GO:0004674	protein serine/threonine kinase activity
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0014704	intercalated disc
Cellular Component	GO:0030027	lamellipodium
Cellular Component	GO:0048471	perinuclear region of cytoplasm
Cellular Component	GO:0005942	phosphatidylinositol 3-kinase complex
Cellular Component	GO:0005943	phosphatidylinositol 3-kinase complex, class IA
Cellular Component	GO:0005944	phosphatidylinositol 3-kinase complex, class IB
Cellular Component	GO:0005886	plasma membrane

InterPro / Pfam

InterPro	InterPro name
IPR000341	Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain
IPR000403	Phosphatidylinositol 3-/4-kinase, catalytic domain
IPR001263	Phosphoinositide 3-kinase, accessory (PIK) domain
IPR002420	C2 phosphatidylinositol 3-kinase-type domain
IPR003113	Phosphatidylinositol 3-kinase, adaptor-binding domain
IPR011009	Protein kinase-like domain superfamily
IPR015433	Phosphatidylinositol kinase
IPR016024	Armadillo-type fold
IPR018936	Phosphatidylinositol 3/4-kinase, conserved site
IPR029071	Ubiquitin-like domain superfamily
IPR035892	C2 domain superfamily
IPR036940	Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily
IPR037704	PI3Kalpha, catalytic domain
IPR042236	Phosphoinositide 3-kinase, accessory (PIK) domain superfamily

Pfam	Pfam name
PF00454	Phosphatidylinositol 3- and 4-kinase
PF00613	Phosphoinositide 3-kinase family, accessory domain (PIK domain)
PF00792	Phosphoinositide 3-kinase C2
PF00794	PI3-kinase family, ras-binding domain
PF02192	PI3-kinase family, p85-binding domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-109704	PI3K Cascade	Internal node	R-HSA-162582	Signal Transduction
R-HSA-112399	IRS-mediated signalling	Internal node	R-HSA-162582	Signal Transduction
R-HSA-114604	GPVI-mediated activation cascade	Leaf	R-HSA-109582	Hemostasis
R-HSA-1236382	Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants	Leaf	R-HSA-1643685	Disease
R-HSA-1250342	PI3K events in ERBB4 signaling	Leaf	R-HSA-162582	Signal Transduction
R-HSA-1257604	PIP3 activates AKT signaling	Internal node	R-HSA-162582	Signal Transduction
R-HSA-1433557	Signaling by SCF-KIT	Internal node	R-HSA-162582	Signal Transduction
R-HSA-1660499	Synthesis of PIPs at the plasma membrane	Leaf	R-HSA-1430728	Metabolism
R-HSA-180292	GAB1 signalosome	Leaf	R-HSA-162582	Signal Transduction
R-HSA-1839117	Signaling by cytosolic FGFR1 fusion mutants	Leaf	R-HSA-1643685	Disease
R-HSA-186763	Downstream signal transduction	Leaf	R-HSA-162582	Signal Transduction
R-HSA-1963642	PI3K events in ERBB2 signaling	Leaf	R-HSA-162582	Signal Transduction
R-HSA-198203	PI3K/AKT activation	Leaf	R-HSA-162582	Signal Transduction
R-HSA-201556	Signaling by ALK	Internal node	R-HSA-162582	Signal Transduction
R-HSA-202424	Downstream TCR signaling	Leaf	R-HSA-168256	Immune System
R-HSA-2029485	Role of phospholipids in phagocytosis	Leaf	R-HSA-168256	Immune System
R-HSA-210993	Tie2 Signaling	Leaf	R-HSA-109582	Hemostasis
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	Leaf	R-HSA-1643685	Disease
R-HSA-2424491	DAP12 signaling	Leaf	R-HSA-168256	Immune System
R-HSA-2730905	Role of LAT2/NTAL/LAB on calcium mobilization	Leaf	R-HSA-168256	Immune System
R-HSA-373753	Nephrin family interactions	Leaf	R-HSA-1500931	Cell-Cell communication
R-HSA-388841	Costimulation by the CD28 family	Internal node	R-HSA-168256	Immune System
R-HSA-389357	CD28 dependent PI3K/Akt signaling	Leaf	R-HSA-168256	Immune System
R-HSA-416476	G alpha (q) signalling events	Internal node	R-HSA-162582	Signal Transduction
R-HSA-4420097	VEGFA-VEGFR2 Pathway	Internal node	R-HSA-162582	Signal Transduction
R-HSA-512988	Interleukin-3, Interleukin-5 and GM-CSF signaling	Internal node	R-HSA-168256	Immune System
R-HSA-5637810	Constitutive Signaling by EGFRvIII	Leaf	R-HSA-1643685	Disease
R-HSA-5654689	PI-3K cascade:FGFR1	Leaf	R-HSA-162582	Signal Transduction
R-HSA-5654695	PI-3K cascade:FGFR2	Leaf	R-HSA-162582	Signal Transduction
R-HSA-5654710	PI-3K cascade:FGFR3	Leaf	R-HSA-162582	Signal Transduction
R-HSA-5654720	PI-3K cascade:FGFR4	Leaf	R-HSA-162582	Signal Transduction
R-HSA-5655253	Signaling by FGFR2 in disease	Internal node	R-HSA-1643685	Disease
R-HSA-5655291	Signaling by FGFR4 in disease	Internal node	R-HSA-1643685	Disease
R-HSA-5655302	Signaling by FGFR1 in disease	Internal node	R-HSA-1643685	Disease
R-HSA-5655332	Signaling by FGFR3 in disease	Internal node	R-HSA-1643685	Disease
R-HSA-5673001	RAF/MAP kinase cascade	Internal node	R-HSA-162582	Signal Transduction
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	Leaf	R-HSA-162582	Signal Transduction
R-HSA-8851907	MET activates PI3K/AKT signaling	Leaf	R-HSA-162582	Signal Transduction
R-HSA-8853659	RET signaling	Leaf	R-HSA-1266738	Developmental Biology
R-HSA-9009391	Extra-nuclear estrogen signaling	Internal node	R-HSA-162582	Signal Transduction
R-HSA-9013149	RAC1 GTPase cycle	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9013404	RAC2 GTPase cycle	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9027276	Erythropoietin activates Phosphoinositide-3-kinase (PI3K)	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9028335	Activated NTRK2 signals through PI3K	Leaf	R-HSA-162582	Signal Transduction
R-HSA-912526	Interleukin receptor SHC signaling	Leaf	R-HSA-168256	Immune System
R-HSA-912631	Regulation of signaling by CBL	Leaf	R-HSA-168256	Immune System
R-HSA-9603381	Activated NTRK3 signals through PI3K	Leaf	R-HSA-162582	Signal Transduction
R-HSA-9607240	FLT3 Signaling	Internal node	R-HSA-168256	Immune System
R-HSA-9664565	Signaling by ERBB2 KD Mutants	Leaf	R-HSA-1643685	Disease
R-HSA-9665348	Signaling by ERBB2 ECD mutants	Leaf	R-HSA-1643685	Disease
R-HSA-9670439	Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	Leaf	R-HSA-1643685	Disease
R-HSA-9673767	Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants	Leaf	R-HSA-1643685	Disease
R-HSA-9673770	Signaling by PDGFRA extracellular domain mutants	Leaf	R-HSA-1643685	Disease
R-HSA-9680350	Signaling by CSF1 (M-CSF) in myeloid cells	Leaf	R-HSA-168256	Immune System
R-HSA-9703465	Signaling by FLT3 fusion proteins	Leaf	R-HSA-1643685	Disease
R-HSA-9703648	Signaling by FLT3 ITD and TKD mutants	Internal node	R-HSA-1643685	Disease
R-HSA-9725370	Signaling by ALK fusions and activated point mutants	Internal node	R-HSA-1643685	Disease

Subcellular location

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0004437	Cranial hyperostosis
HP:0000490	Deeply set eye
HP:0100031	Neoplasm of the thyroid gland
HP:0030680	Abnormality of cardiovascular system morphology
HP:0002354	Memory impairment
HP:0002667	Nephroblastoma
HP:0001355	Megalencephaly
HP:0001629	Ventricular septal defect
HP:0006101	Finger syndactyly
HP:0200008	Intestinal polyposis
HP:0100761	Visceral angiomatosis
HP:0100780	Conjunctival hamartoma
HP:0008551	Microtia
HP:0002239	Gastrointestinal hemorrhage
HP:0000347	Micrognathia
HP:0001161	Hand polydactyly
HP:0012505	Enlarged pituitary gland
HP:0002119	Ventriculomegaly
HP:0010526	Dysgraphia
HP:0000836	Hyperthyroidism
HP:0001413	Micronodular cirrhosis
HP:0012721	Venous malformation
HP:0006824	Cranial nerve paralysis
HP:0003002	Breast carcinoma
HP:0001482	Subcutaneous nodule
HP:0012032	Lipoma
HP:0002355	Difficulty walking
HP:0001744	Splenomegaly
HP:0025104	Capillary malformation
HP:0005280	Depressed nasal bridge
HP:0002392	EEG with polyspike wave complexes
HP:0000154	Wide mouth
HP:0000494	Downslanted palpebral fissures
HP:0031487	Capillary malformation of the lip
HP:0000708	Atypical behavior
HP:0030358	Non-small cell lung carcinoma
HP:0001371	Flexion contracture
HP:0000130	Abnormality of the uterus
HP:0004390	Hamartomatous polyposis
HP:0002376	Developmental regression
HP:0100763	Abnormality of the lymphatic system
HP:0002637	Cerebral ischemia
HP:0100010	Spinal meningioma
HP:0001909	Leukemia
HP:0001053	Hypopigmented skin patches
HP:0007359	Focal-onset seizure
HP:0002017	Nausea and vomiting
HP:0000319	Smooth philtrum
HP:0012658	Abnormal brain FDG positron emission tomography
HP:0000160	Narrow mouth
HP:0003006	Neuroblastoma
HP:0001342	Cerebral hemorrhage
HP:0001252	Hypotonia
HP:0000077	Abnormality of the kidney
HP:0001388	Joint laxity
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0002650	Scoliosis
HP:0000520	Proptosis
HP:0001249	Intellectual disability
HP:0025352	Typically de novo
HP:0100613	Death in early adulthood
HP:0030344	Decreased circulating luteinizing hormone level
HP:0030532	Visual acuity test abnormality
HP:0012691	Focal T2 hypointense thalamic lesion
HP:0030341	Decreased circulating follicle stimulating hormone concentration
HP:0000036	Abnormal penis morphology
HP:0100661	Trigeminal neuralgia
HP:0011167	Focal tonic seizure
HP:0007018	Attention deficit hyperactivity disorder
HP:0031287	Seborrheic keratosis
HP:0002516	Increased intracranial pressure
HP:0001770	Toe syndactyly
HP:0000771	Gynecomastia
HP:0003003	Colon cancer
HP:0001052	Nevus flammeus
HP:0002144	Tethered cord
HP:0000972	Palmoplantar hyperkeratosis
HP:0010628	Facial palsy
HP:0007924	Slow decrease in visual acuity
HP:0008214	Decreased serum estradiol
HP:0030078	Lung adenocarcinoma
HP:0004302	Functional motor deficit
HP:0001302	Pachygyria
HP:0002253	Colonic diverticula
HP:0001402	Hepatocellular carcinoma
HP:0001012	Multiple lipomas
HP:0001290	Generalized hypotonia
HP:0003484	Upper limb muscle weakness
HP:0002126	Polymicrogyria
HP:0002007	Frontal bossing
HP:0001317	Abnormal cerebellum morphology
HP:0000020	Urinary incontinence
HP:0001054	Numerous nevi
HP:0001262	Excessive daytime somnolence
HP:0000602	Ophthalmoplegia
HP:0010614	Fibroma
HP:0011215	Hemihypsarrhythmia
HP:0001508	Failure to thrive
HP:0000995	Melanocytic nevus
HP:0001852	Sandal gap
HP:0009748	Large earlobe
HP:0001250	Seizure
HP:0003764	Nevus
HP:0002167	Abnormality of speech or vocalization
HP:0000518	Cataract
HP:0100571	Cardiac diverticulum
HP:0025373	Interictal EEG abnormality
HP:0012126	Stomach cancer
HP:0000648	Optic atrophy
HP:0006725	Pancreatic adenocarcinoma
HP:0002308	Chiari malformation
HP:0000141	Amenorrhea
HP:0012062	Bone cyst
HP:0040009	Hyperparakeratosis
HP:0000568	Microphthalmia
HP:0100743	Neoplasm of the rectum
HP:0000337	Broad forehead
HP:0100621	Dysgerminoma
HP:0000348	High forehead
HP:0100026	Arteriovenous malformation
HP:0001085	Papilledema
HP:0000982	Palmoplantar keratoderma
HP:0008240	Secondary growth hormone deficiency
HP:0030591	Abnormal kinetic perimetry test
HP:0200063	Colorectal polyposis
HP:0100576	Amaurosis fugax
HP:0001159	Syndactyly
HP:0006774	Ovarian papillary adenocarcinoma
HP:0030521	Bitemporal hemianopia
HP:0010819	Atonic seizure
HP:0001626	Abnormality of the cardiovascular system
HP:0000034	Hydrocele testis
HP:0000716	Depression
HP:0002861	Melanoma
HP:0005595	Generalized hyperkeratosis
HP:0002893	Pituitary adenoma
HP:0001256	Intellectual disability, mild
HP:0007256	Abnormal pyramidal sign
HP:0012639	Abnormal nervous system morphology
HP:0002024	Malabsorption
HP:0001279	Syncope
HP:0000545	Myopia
HP:0008245	Pituitary hypothyroidism
HP:0002619	Varicose veins
HP:0010828	Hemifacial spasm
HP:0001548	Overgrowth
HP:0006753	Neoplasm of the stomach
HP:0012174	Glioblastoma multiforme
HP:0011442	Abnormal central motor function
HP:0001824	Weight loss
HP:0004408	Abnormality of the sense of smell
HP:0002027	Abdominal pain
HP:0010442	Polydactyly
HP:0000929	Abnormal skull morphology
HP:0100615	Ovarian neoplasm
HP:0030766	Ear pain
HP:0000218	High palate
HP:0012246	Oculomotor nerve palsy
HP:0000870	Increased circulating prolactin concentration
HP:0000854	Thyroid adenoma
HP:0000044	Hypogonadotropic hypogonadism
HP:0004099	Macrodactyly
HP:0001528	Hemihypertrophy
HP:0100578	Lipoatrophy
HP:0004481	Progressive macrocephaly
HP:0010714	2-4 toe syndactyly
HP:0001269	Hemiparesis
HP:0100646	Thyroiditis
HP:0100006	Neoplasm of the central nervous system
HP:0000138	Ovarian cyst
HP:0000256	Macrocephaly
HP:0000853	Goiter
HP:0000821	Hypothyroidism
HP:0100790	Hernia
HP:0002076	Migraine
HP:0002858	Meningioma
HP:0000089	Renal hypoplasia
HP:0008675	Enlarged polycystic ovaries
HP:0008069	Neoplasm of the skin
HP:0002664	Neoplasm
HP:0001123	Visual field defect
HP:0001048	Cavernous hemangioma
HP:0012757	Abnormal neuron morphology
HP:0000767	Pectus excavatum
HP:0003577	Congenital onset
HP:0002171	Gliosis
HP:0006572	Subacute progressive viral hepatitis
HP:0002512	Brain stem compression
HP:0007340	Lower limb muscle weakness
HP:0012114	Endometrial carcinoma
HP:0000006	Autosomal dominant inheritance
HP:0012377	Hemianopia
HP:0001276	Hypertonia
HP:0001263	Global developmental delay
HP:0011195	EEG with focal sharp slow waves
HP:0010301	Spinal dysraphism
HP:0000505	Visual impairment
HP:0030890	Hyperintensity of cerebral white matter on MRI
HP:0002019	Constipation
HP:0000739	Anxiety
HP:0003401	Paresthesia
HP:0001156	Brachydactyly
HP:0000802	Impotence
HP:0001051	Seborrheic dermatitis
HP:0011097	Epileptic spasm
HP:0011193	EEG with focal spikes
HP:0100835	Benign neoplasm of the central nervous system
HP:0030878	Abnormality on pulmonary function testing
HP:0010524	Agnosia
HP:0002808	Kyphosis
HP:0002133	Status epilepticus
HP:0004374	Hemiplegia/hemiparesis
HP:0012740	Papilloma
HP:0000712	Emotional lability
HP:0000465	Webbed neck
HP:0010997	Chromosomal breakage induced by ionizing radiation
HP:0001336	Myoclonus
HP:0006716	Hereditary nonpolyposis colorectal carcinoma
HP:0010864	Intellectual disability, severe
HP:0001034	Hypermelanotic macule
HP:0000105	Enlarged kidney
HP:0011730	Abnormal central sensory function
HP:0010786	Urinary tract neoplasm
HP:0010622	Neoplasm of the skeletal system
HP:0000286	Epicanthus
HP:0011675	Arrhythmia
HP:0011153	Focal motor seizure
HP:0012378	Fatigue
HP:0004322	Short stature
HP:0008202	Reduced circulating prolactin concentration
HP:0002624	Abnormal venous morphology
HP:0005584	Renal cell carcinoma
HP:0000820	Abnormality of the thyroid gland
HP:0000221	Furrowed tongue
HP:0006519	Alveolar cell carcinoma
HP:0003418	Back pain
HP:0002315	Headache
HP:0008163	Decreased circulating cortisol level
HP:0100555	Asymmetric growth
HP:0000365	Hearing impairment
HP:0100648	Neoplasm of the tongue
HP:0001031	Subcutaneous lipoma
HP:0012285	Abnormal hypothalamus physiology
HP:0003581	Adult onset
HP:0011133	Increased sensitivity to ionizing radiation
HP:0008237	Hypothalamic hypothyroidism
HP:0000293	Full cheeks
HP:0010816	Epidermal nevus
HP:0000238	Hydrocephalus
HP:0045026	Abnormal mediastinum morphology
HP:0002671	Basal cell carcinoma
HP:0001004	Lymphedema
HP:0000618	Blindness
HP:0100559	Lower limb asymmetry
HP:0006520	Progressive pulmonary function impairment
HP:0011752	Neoplasm of the posterior pituitary
HP:0002282	Gray matter heterotopia
HP:0410067	Increased level of L-fucose in urine
HP:0100579	Mucosal telangiectasiae
HP:0001288	Gait disturbance
HP:0000737	Irritability
HP:0011750	Neoplasm of the anterior pituitary
HP:0005374	Cellular immunodeficiency
HP:0010851	EEG with burst suppression
HP:0001102	Angioid streaks of the fundus
HP:0009720	Adenoma sebaceum
HP:0002920	Decreased circulating ACTH level
HP:0100660	Dyskinesia
HP:0000267	Cranial asymmetry
HP:0001428	Somatic mutation
HP:0100009	Intracranial meningioma
HP:0001513	Obesity
HP:0100659	Abnormal cerebral vascular morphology
HP:0000324	Facial asymmetry
HP:0040171	Decreased serum testosterone concentration
HP:0000360	Tinnitus
HP:0001522	Death in infancy
HP:0100585	Telangiectasia of the skin
HP:0012733	Macule
HP:0001442	Somatic mosaicism
HP:0010534	Transient global amnesia
HP:0012887	Ovarian serous cystadenoma
HP:0002891	Uterine leiomyosarcoma
HP:0001260	Dysarthria
HP:0032046	Focal cortical dysplasia
HP:0007206	Hemimegalencephaly
HP:0006740	Transitional cell carcinoma of the bladder
HP:0033522	Cerebral cavernous malformation
HP:0007715	Weak extraocular muscles
HP:0000717	Autism
HP:0200034	Papule
HP:0000965	Cutis marmorata
HP:0002894	Neoplasm of the pancreas
HP:0002389	Cavum septum pellucidum
HP:0001251	Ataxia
HP:0002080	Intention tremor
HP:0100543	Cognitive impairment
HP:0000738	Hallucinations
HP:0000316	Hypertelorism
HP:0005692	Joint hyperflexibility
HP:0010609	Skin tags
HP:0006731	Follicular thyroid carcinoma
HP:0001829	Foot polydactyly
HP:0000327	Hypoplasia of the maxilla
HP:0003745	Sporadic
HP:0000158	Macroglossia
HP:0007565	Multiple cafe-au-lait spots
HP:0001067	Neurofibroma

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adipose tissue	adipocytes	Low	Approved
adrenal gland	glandular cells	High	Approved
appendix	glandular cells	High	Approved
appendix	lymphoid tissue	Low	Approved
bone marrow	hematopoietic cells	Low	Approved
breast	adipocytes	Low	Approved
breast	glandular cells	High	Approved
breast	myoepithelial cells	High	Approved
bronchus	basal cells	Low	Approved
bronchus	ciliated cells (cell body)	High	Approved
caudate	glial cells	Low	Approved
caudate	neuronal cells	Low	Approved
cerebellum	Purkinje cells	Medium	Approved
cerebellum	cells in granular layer	High	Approved
cerebellum	cells in molecular layer	Low	Approved
cerebral cortex	endothelial cells	Low	Approved
cerebral cortex	glial cells	Low	Approved
cerebral cortex	neuronal cells	Medium	Approved
cerebral cortex	neuropil	Low	Approved
cervix	glandular cells	Medium	Approved
cervix	squamous epithelial cells	Medium	Approved
colon	endothelial cells	Low	Approved
colon	glandular cells	High	Approved
colon	peripheral nerve/ganglion	Low	Approved
duodenum	glandular cells	High	Approved
endometrium 1	cells in endometrial stroma	Low	Approved
endometrium 1	glandular cells	High	Approved
endometrium 2	glandular cells	Medium	Approved
epididymis	glandular cells	Medium	Approved
esophagus	squamous epithelial cells	Medium	Approved
fallopian tube	ciliated cells (cell body)	High	Approved
fallopian tube	non-ciliated cells	High	Approved
gallbladder	glandular cells	High	Approved
heart muscle	cardiomyocytes	Low	Approved
hippocampus	neuronal cells	Medium	Approved
kidney	cells in glomeruli	Low	Approved
kidney	cells in tubules	High	Approved
liver	cholangiocytes	Low	Approved
liver	hepatocytes	Medium	Approved
lung	alveolar cells	Low	Approved
lung	macrophages	Medium	Approved
lymph node	non-germinal center cells	Medium	Approved
nasopharynx	basal cells	Low	Approved
nasopharynx	ciliated cells (cell body)	High	Approved
oral mucosa	squamous epithelial cells	Medium	Approved
ovary	ovarian stroma cells	Low	Approved
pancreas	exocrine glandular cells	Medium	Approved
pancreas	pancreatic endocrine cells	Medium	Approved
parathyroid gland	glandular cells	High	Approved
placenta	decidual cells	Low	Approved
placenta	trophoblastic cells	High	Approved
prostate	glandular cells	Medium	Approved
rectum	glandular cells	High	Approved
salivary gland	glandular cells	High	Approved
seminal vesicle	glandular cells	Medium	Approved
skeletal muscle	myocytes	Low	Approved
skin 1	Langerhans	Low	Approved
skin 1	fibroblasts	Low	Approved
skin 1	keratinocytes	Low	Approved
skin 1	melanocytes	Medium	Approved
skin 2	epidermal cells	Medium	Approved
small intestine	glandular cells	High	Approved
smooth muscle	smooth muscle cells	Low	Approved
soft tissue 1	fibroblasts	Low	Approved
soft tissue 1	peripheral nerve	Low	Approved
soft tissue 2	fibroblasts	Low	Approved
soft tissue 2	peripheral nerve	Low	Approved
spleen	cells in red pulp	Low	Approved
spleen	cells in white pulp	High	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
testis	Leydig cells	High	Approved
testis	cells in seminiferous ducts	Medium	Approved
thyroid gland	glandular cells	High	Approved
tonsil	germinal center cells	Medium	Approved
tonsil	non-germinal center cells	Medium	Approved
tonsil	squamous epithelial cells	Medium	Approved
urinary bladder	urothelial cells	Medium	Approved
vagina	squamous epithelial cells	Low	Approved

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
gastric cancer	MONDO:0001056	C16	chapter2, Neoplasms	OMIM:613659	Orphanet:63443
colorectal cancer	MONDO:0005575	C18	chapter2, Neoplasms	OMIM:114500	Orphanet:466667
megalodactyly	MONDO:0007962	-	-	OMIM:155500
nevus- epidermal	MONDO:0008093	Q82	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:162900
ovarian cancer	MONDO:0008170	C56	chapter2, Neoplasms	OMIM:167000	Orphanet:213500
seborrheic keratosis	MONDO:0008420	L82	chapter12, Diseases of the skin and subcutaneous tissue	OMIM:182000
lung cancer	MONDO:0008903	C34	chapter2, Neoplasms	OMIM:211980
megalencephaly-capillary malformation-polymicrogyria syndrome	MONDO:0011240	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:602501	Orphanet:60040
cloves syndrome	MONDO:0013038	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:612918	Orphanet:140944
clapo syndrome	MONDO:0013125	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:613089	Orphanet:168984
cowden syndrome 5	MONDO:0014047	Q85	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:615108
adult hepatocellular carcinoma	MONDO:0016216	C22	chapter2, Neoplasms		Orphanet:210159
hereditary breast carcinoma	MONDO:0016419	C50	chapter2, Neoplasms	OMIM:114480	Orphanet:227535
meningioma	MONDO:0016642	D32	chapter2, Neoplasms		Orphanet:2495
hemihyperplasia-multiple lipomatosis syndrome	MONDO:0017177	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:276280
macrodactyly of fingers, unilateral	MONDO:0017564	Q74	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:295239
macrodactyly of toes, unilateral	MONDO:0017566	Q74	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:295243
segmental progressive overgrowth syndrome with fibroadipose hyperplasia	MONDO:0017812	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:314662
hemimegalencephaly	MONDO:0020492	Q04	chapter17, Congenital malformations, deformations and chromosomal abnormalities		Orphanet:99802

Summary of P42336

Gene: PIK3CA
Protein: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of P42336

Gene: PIK3CA Protein: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: PIK3CA
Protein: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform