PTEN - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	COL18A1	collagen type XVIII alpha 1 chain	Collagen degradation Activation of Matrix Metalloproteinases Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Laminin interactions Collagen chain trimerization		Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC) Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
Novel	NCSTN	nicastrin	Nuclear signaling by ERBB4 Degradation of the extracellular matrix Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH2 Activation and Transmission of Signal to the Nucleus EPH-ephrin mediated repulsion of cells Neutrophil degranulation NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH4 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 Amyloid fiber formation		Acne inversa; Hidradenitis supprativa
Novel	NR3C1	nuclear receptor subfamily 3 group C member 1	HSP90 chaperone cycle for steroid hormone receptors (SHR) Circadian Clock SUMOylation of intracellular receptors PTK6 Expression Regulation of RUNX2 expression and activity FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Potential therapeutics for SARS	Flunisolide Diflorasone Alclometasone Medrysone Amcinonide Fluorometholone Megestrol acetate Levonorgestrel Beclomethasone dipropionate Progesterone Spironolactone Betamethasone Desoximetasone Fluticasone propionate Fluocinolone acetonide Ulobetasol Triamcinolone Prednisone Flumethasone Fludrocortisone Norethisterone Hydrocortisone Mometasone Hydrocortamate Mifepristone Clocortolone Flurandrenolide Prednisolone Loteprednol etabonate Rimexolone Methylprednisolone Clobetasol propionate Fluocinonide Prednicarbate Fluoxymesterone Budesonide Dexamethasone Desonide Cortisone acetate Paramethasone Drospirenone Ciclesonide Hexane-1,6-Diol Aldosterone ORG-34517 Difluprednate Ulipristal Fluticasone furoate Tixocortol Difluocortolone Gestrinone Deflazacort Onapristone Cortivazol Clobetasone Fluticasone Mometasone furoate Hydrocortisone aceponate Hydrocortisone acetate Hydrocortisone butyrate Hydrocortisone cypionate Hydrocortisone phosphate Hydrocortisone probutate Hydrocortisone valerate Segesterone acetate Prednisolone phosphate Dexamethasone acetate Betamethasone phosphate Prednisolone acetate	46,XX disorders of sex development (Disorders related to androgen excess), including: Congenital adrenal hyperplasias; Glucocorticoid resistance; Aromatase deficiency
Novel	AKT3	AKT serine/threonine kinase 3	Activation of BAD and translocation to mitochondria PIP3 activates AKT signaling PIP3 activates AKT signaling Downregulation of ERBB2:ERBB3 signaling AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the nucleus Negative regulation of the PI3K/AKT network AKT-mediated inactivation of FOXO1A CD28 dependent PI3K/Akt signaling CTLA4 inhibitory signaling G beta:gamma signalling through PI3Kgamma VEGFR2 mediated vascular permeability TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry RAB GEFs exchange GTP for GDP on RABs RUNX2 regulates genes involved in cell migration Regulation of PTEN stability and activity FLT3 Signaling Regulation of localization of FOXO transcription factors Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Novel	ARL3	ADP ribosylation factor like GTPase 3	Trafficking of myristoylated proteins to the cilium	2-(N-morpholino)ethanesulfonic acid Guanosine-5'-Diphosphate
Novel	FGF7	fibroblast growth factor 7	PI3K Cascade PIP3 activates AKT signaling FGFR2b ligand binding and activation Activated point mutants of FGFR2 Constitutive Signaling by Aberrant PI3K in Cancer Phospholipase C-mediated cascade; FGFR2 PI-3K cascade:FGFR2 SHC-mediated cascade:FGFR2 FRS-mediated FGFR2 signaling Negative regulation of FGFR2 signaling Signaling by FGFR2 in disease RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Novel	KIF20B	kinesin family member 20B	COPI-dependent Golgi-to-ER retrograde traffic Kinesins
Novel	LIPF	lipase F, gastric type	Digestion of dietary lipid	Orlistat Undecyl-Phosphinic Acid Butyl Ester
Novel	RBM15B	RNA binding motif protein 15B
	TP53	tumor protein p53	Activation of NOXA and translocation to mitochondria Activation of PUMA and translocation to mitochondria Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Formation of Senescence-Associated Heterochromatin Foci (SAHF) Oncogene Induced Senescence DNA Damage/Telomere Stress Induced Senescence SUMOylation of transcription factors Autodegradation of the E3 ubiquitin ligase COP1 Association of TriC/CCT with target proteins during biosynthesis TP53 Regulates Metabolic Genes Ub-specific processing proteases Ovarian tumor domain proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain TP53 Regulates Transcription of Caspase Activators and Caspases TP53 Regulates Transcription of Death Receptors and Ligands TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Regulation of TP53 Expression Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Regulation of TP53 Activity through Methylation PI5P Regulates TP53 Acetylation G2/M DNA damage checkpoint G2/M Checkpoints Stabilization of p53 Transcriptional activation of cell cycle inhibitor p21 The role of GTSE1 in G2/M progression after G2 checkpoint Transcriptional Regulation by VENTX RUNX3 regulates CDKN1A transcription Regulation of PTEN gene transcription Regulation of PTEN gene transcription Factors involved in megakaryocyte development and platelet production	Acetylsalicylic acid Zinc Triethyl phosphate AZD 3355 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Osteosarcoma Adrenal carcinoma Thyroid cancer Breast cancer Basal cell carcinoma Malignant melanoma Pancreatic cancer Gastric cancer Malignant pleural mesothelioma Non-small cell lung cancer Esophageal cancer Oral cancer Multiple myeloma Small cell lung cancer Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL) Glioma Squamous cell carcinoma Kaposi's sarcoma Cholangiocarcinoma Gallbladder cancer Cancer of the anal canal Hepatocellular carcinoma Choriocarcinoma Vulvar cancer Choroid plexus papilloma Burkitt lymphoma Adult T-cell leukemia Hairy-cell leukemia Bladder cancer Chronic lymphocytic leukemia (CLL) Penile cancer Endometrial Cancer Ovarian cancer Colorectal cancer Laryngeal cancer Chronic myeloid leukemia (CML)
	MYC	MYC proto-oncogene, bHLH transcription factor	Transcription of E2F targets under negative control by DREAM complex NOTCH1 Intracellular Domain Regulates Transcription SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Binding of TCF/LEF:CTNNB1 to target gene promoters MAPK6/MAPK4 signaling Ub-specific processing proteases Interleukin-4 and Interleukin-13 signaling Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry TFAP2 (AP-2) family regulates transcription of cell cycle factors RUNX3 regulates WNT signaling Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis	Acetylsalicylic acid Nadroparin	Choriocarcinoma Penile cancer Burkitt lymphoma Oral cancer Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) Multiple myeloma Small cell lung cancer Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Osteosarcoma Kaposi's sarcoma Laryngeal cancer Breast cancer Ovarian cancer
	DSP	desmoplakin	Apoptotic cleavage of cell adhesion proteins Neutrophil degranulation Keratinization Formation of the cornified envelope	Zinc Artenimol Zinc acetate	Arrhythmogenic right ventricular cardiomyopathy (ARVC) Naxos disease and Carvajal syndrome Striate palmoplantar keratoderma Skin fragility-woolly hair syndrome Epidermolysis bullosa simplex, including: Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM); Epidermolysis bullosa simplex, Koebner type (EBS-K); Epidermolysis bullosa simplex, Weber-Cockayne type (EBS-WC); Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP); Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex, recessive; Epidermolysis bullosa, lethal acantholytic
	AR	androgen receptor	HSP90 chaperone cycle for steroid hormone receptors (SHR) Nuclear Receptor transcription pathway SUMOylation of intracellular receptors Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Ub-specific processing proteases RUNX2 regulates osteoblast differentiation RUNX2 regulates osteoblast differentiation	Diethylstilbestrol Levonorgestrel Progesterone Spironolactone Flutamide Oxandrolone Fluphenazine Testosterone Mitotane Estrone Nilutamide Tamoxifen Norethisterone Drostanolone Norgestimate Nandrolone phenpropionate Ketoconazole Acetophenazine Bicalutamide Fluoxymesterone Drospirenone Danazol Testosterone propionate Oxybenzone 1-Testosterone Boldenone Calusterone Periciazine Prasterone Flufenamic acid Stanolone (R)-Bicalutamide Metribolone (3AALPHA,4ALPHA,7ALPHA,7AALPHA)- 3A,4,7,7A-TETRAHYDRO-2-(4-NITRO-1-NAPHTHALENYL)-4,7-ETHANO-1H-ISOINDOLE-1,3(2H)-DIONE Cyproterone acetate LGD2941 Dimethylcurcumin Oxymetholone Methyltestosterone Norelgestromin Stanozolol Tetrahydrogestrinone (2S)-N-(4-cyano-3-iodophenyl)-3-(4-cyanophenoxy)-2-hydroxy-2-methylpropanamide BMS-564929 S-23 phenoxy)propyl]amino}-2-(trifluoromethyl)benzonitrile (2S)-2-hydroxy-2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]-3-(pentafluorophenoxy)propanamide Andarine (R)-3-BROMO-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE (5S,8R,9S,10S,13R,14S,17S)-13-{2-[(3,5-DIFLUOROBENZYL)OXY]ETHYL}-17-HYDROXY-10-METHYLHEXADECAHYDRO-3H-CYCLOPENTA[A]PHENANTHREN-3-ONE S-3-(4-FLUOROPHENOXY)-2-HYDROXY-2-METHYL-N-[4-NITRO-3-(TRIFLUOROMETHYL)PHENYL]PROPANAMIDE 1-TERT-BUTYL-3-(2,5-DIMETHYLBENZYL)-1H-PYRAZOLO[3,4-D]PYRIMIDIN-4-AMINE 4-[(7R,7AS)-7-HYDROXY-1,3-DIOXOTETRAHYDRO-1H-PYRROLO[1,2-C]IMIDAZOL-2(3H)-YL]-1-NAPHTHONITRILE 2-chloro-4-{[(1R,3Z,7S,7aS)-7-hydroxy-1-(trifluoromethyl)tetrahydro-1H-pyrrolo[1,2-c][1,3]oxazol-3-ylidene]amino}-3-methylbenzonitrile LGD-2226 3-[(4-AMINO-1-TERT-BUTYL-1H-PYRAZOLO[3,4-D]PYRIMIDIN-3-YL)METHYL]PHENOL Triclosan Nandrolone decanoate Ulipristal Enzalutamide Eugenol Dienogest Norethynodrel Norgestrel Homosalate Enzacamene Mibolerone Phenothiazine Gestrinone Apalutamide Clascoterone Darolutamide Esculin Ligandrol Testosterone cypionate Testosterone enanthate Testosterone undecanoate Stanolone acetate Segesterone acetate Boldenone undecylenate Echinacoside Ketodarolutamide	46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS) 46,XY disorders of sex development (Other), including: Persistent Mullerian duct syndrome; Hypospadias; Cryptorchidism Prostate cancer Spinal and bulbar muscular atrophy (SBMA); Kennedy's disease
	HSD17B10	hydroxysteroid 17-beta dehydrogenase 10	tRNA processing in the mitochondrion tRNA modification in the mitochondrion Branched-chain amino acid catabolism rRNA processing in the mitochondrion	NADH 1-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone Adduct Omega-3-carboxylic acids	2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency; HSD10 deficiency Non-syndromic X-linked mental retardation Syndromic X-linked mental retardation, including: Turner type (MRXST); Siderius type (MRXSSD) ; Cabezas type (MRXC); Raymond type (MRXSR); Type10 (MRXS10); Type14 (MRXS14); Mental retardation with isolated growth hormone deficiency (MRGH)
	INS	insulin	Regulation of gene expression in beta cells Insulin processing Insulin processing Synthesis, secretion, and deacylation of Ghrelin Regulation of insulin secretion COPI-mediated anterograde transport PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling IRS activation Signal attenuation Insulin receptor signalling cascade Signaling by Insulin receptor Insulin receptor recycling FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Amyloid fiber formation	Zinc M-Cresol Myristic acid Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Maturity onset diabetes of the young (MODY) Type I diabetes mellitus Permanent neonatal diabetes mellitus (PNDM)
	SETX	senataxin			Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2) Distal hereditary motor neuropathies (dHMN)
	ERBB3	erb-b2 receptor tyrosine kinase 3		Tucatinib	Lethal congenital contractural syndrome (LCCS) Type I diabetes mellitus
	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	Acyl chain remodeling of CL Beta oxidation of myristoyl-CoA to lauroyl-CoA mitochondrial fatty acid beta-oxidation of unsaturated fatty acids Beta oxidation of palmitoyl-CoA to myristoyl-CoA Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA Beta oxidation of octanoyl-CoA to hexanoyl-CoA Beta oxidation of hexanoyl-CoA to butanoyl-CoA	NADH	Disorders of fatty-acid oxidation, including: Medium-chain (MC) acyl-CoA dehydrogenase (AD) deficiency (MCADD); Short-chain AD deficiency (SCADD) ; Short-branched-chain AD deficiency (SBCADD) ; Very long-chain AD deficiency (VLCADD) ; Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD) ; Trifunctional protein deficiency (TFP); Carnitine palmitoyltransferase deficiency (CPT); Carnitine-acylcarnitine translocase deficiency (CACT); Systemic primary carnitine deficiency (CDSP) Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
	HSPD1	heat shock protein family D (Hsp60) member 1	Mitochondrial protein import Mitochondrial protein import TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation	Copper	Hereditary spastic paraplegia (SPG) Hypomyelinating leukodystrophy (HLD); Pelizaeus-Merzbacher disease (PMD)
	JUP	junction plakoglobin	Adherens junctions interactions VEGFR2 mediated vascular permeability Neutrophil degranulation Keratinization Formation of the cornified envelope	Zinc Zinc acetate	Arrhythmogenic right ventricular cardiomyopathy (ARVC) Naxos disease and Carvajal syndrome

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