NF2 - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	RASSF1	Ras association domain family member 1			Nasopharyngeal cancer Non-small cell lung cancer Bladder cancer
Novel	RSPH1	radial spoke head component 1
Novel	SCHIP1	schwannomin interacting protein 1
Novel	SDCBP	syndecan binding protein	Ephrin signaling Neurofascin interactions RIPK1-mediated regulated necrosis Regulation of necroptotic cell death Neutrophil degranulation
Novel	SGSM3	small G protein signaling modulator 3
Novel	SOX3	SRY-box transcription factor 3	Deactivation of the beta-catenin transactivating complex		Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD) Septo-optic dysplasia 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis 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)
Novel	SOX4	SRY-box transcription factor 4	Deactivation of the beta-catenin transactivating complex
Novel	SPTBN1	spectrin beta, non-erythrocytic 1	Nephrin family interactions NCAM signaling for neurite out-growth NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport RHOU GTPase cycle RHOV GTPase cycle Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea Signaling by FLT3 fusion proteins Signaling by FLT3 fusion proteins	Calcium 1D-myo-inositol 1,4,5-trisphosphate
Novel	STK11	serine/threonine kinase 11	AMPK inhibits chREBP transcriptional activation activity Energy dependent regulation of mTOR by LKB1-AMPK Regulation of TP53 Activity through Phosphorylation FOXO-mediated transcription of cell death genes		Peutz-Jeghers syndrome Pancreatic cancer
Novel	TARBP2	TARBP2 subunit of RISC loading complex	MicroRNA (miRNA) biogenesis Small interfering RNA (siRNA) biogenesis PKR-mediated signaling
Novel	TERT	telomerase reverse transcriptase	Telomere Extension By Telomerase Formation of the beta-catenin:TCF transactivating complex Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence	Zidovudine Grn163l Tertomotide	Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
Novel	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 Pyroptosis 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 Loss of function of TP53 in cancer due to loss of tetramerization ability Signaling by ALK fusions and activated point mutants Regulation of NF-kappa B signaling Zygotic genome activation (ZGA) Factors involved in megakaryocyte development and platelet production PKR-mediated signaling	Acetylsalicylic acid Zinc Triethyl phosphate AZD 3355 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Chronic myeloid leukemia (CML) Breast cancer Non-small cell lung cancer Gastric cancer Adult T-cell leukemia Choriocarcinoma Esophageal cancer Glioma Pancreatic cancer Vulvar cancer Multiple myeloma Choroid plexus papilloma Ovarian cancer Hepatocellular carcinoma Squamous cell carcinoma Endometrial Cancer Penile cancer Cancer of the anal canal Hairy-cell leukemia Oral cancer Adrenal carcinoma Malignant melanoma Burkitt lymphoma Thyroid cancer Basal cell carcinoma Small cell lung cancer Gallbladder cancer Bladder cancer Laryngeal cancer Kaposi's sarcoma Cholangiocarcinoma Chronic lymphocytic leukemia (CLL) Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL) Malignant pleural mesothelioma Osteosarcoma Colorectal cancer
Novel	TSC1	TSC complex subunit 1	Macroautophagy Inhibition of TSC complex formation by PKB Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes TBC/RABGAPs		Lymphangioleiomyomatosis (LAM) Tuberous sclerosis complex (TSC); Bourneville-Pringle disease
Novel	TTYH2	tweety family member 2	Stimuli-sensing channels
Novel	TXLNB	taxilin beta
Novel	XPO1	exportin 1	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Rev-mediated nuclear export of HIV RNA NEP/NS2 Interacts with the Cellular Export Machinery Downregulation of TGF-beta receptor signaling Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion Deactivation of the beta-catenin transactivating complex HuR (ELAVL1) binds and stabilizes mRNA RHO GTPases Activate Formins MAPK6/MAPK4 signaling Mitotic Prometaphase Cyclin A/B1/B2 associated events during G2/M transition Estrogen-dependent nuclear events downstream of ESR-membrane signaling EML4 and NUDC in mitotic spindle formation Heme signaling NPAS4 regulates expression of target genes Maturation of hRSV A proteins Transcriptional and post-translational regulation of MITF-M expression and activity	Selinexor
	AGAP2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	Netrin-1 signaling
	AKT1	AKT serine/threonine kinase 1	Activation of BAD and translocation to mitochondria PIP3 activates AKT signaling PIP3 activates AKT signaling Downregulation of ERBB2:ERBB3 signaling Translocation of SLC2A4 (GLUT4) to the plasma membrane Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation MTOR signalling 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 eNOS activation AKT-mediated inactivation of FOXO1A Integrin signaling Deactivation of the beta-catenin transactivating complex CD28 dependent PI3K/Akt signaling Co-inhibition by CTLA4 G beta:gamma signalling through PI3Kgamma Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA KSRP (KHSRP) binds and destabilizes mRNA VEGFR2 mediated vascular permeability TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer Interleukin-4 and Interleukin-13 signaling Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 RAB GEFs exchange GTP for GDP on RABs RUNX2 regulates genes involved in cell migration Regulation of PTEN stability and activity Extra-nuclear estrogen signaling Negative regulation of NOTCH4 signaling FLT3 Signaling Regulation of localization of FOXO transcription factors Estrogen-dependent nuclear events downstream of ESR-membrane signaling KEAP1-NFE2L2 pathway SARS-CoV-2 targets host intracellular signalling and regulatory pathways Mitochondrial unfolded protein response (UPRmt) High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells Mechanical load activates signaling by PIEZO1 and integrins in osteocytes	ATP Arsenic trioxide Genistein Inositol 1,3,4,5-Tetrakisphosphate Resveratrol Archexin Enzastaurin Perifosine N-[2-(5-methyl-4H-1,2,4-triazol-3-yl)phenyl]-7H-pyrrolo[2,3-d]pyrimidin-4-amine 5-(5-chloro-7H-pyrrolo[2,3-d]pyrimidin-4-yl)-4,5,6,7-tetrahydro-1H-imidazo[4,5-c]pyridine	PTEN hamartoma tumor syndrome (PHTS), including: Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus syndrome; Proteus-like syndrome
	AMOTL2	angiomotin like 2	Signaling by Hippo
	ARAF	A-Raf proto-oncogene, serine/threonine kinase	RAF activation MAP2K and MAPK activation Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by RAF1 mutants SHOC2 M1731 mutant abolishes MRAS complex function Gain-of-function MRAS complexes activate RAF signaling	ATP	Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)

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