CDKN2A - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
ACTB	actin beta	Translocation of SLC2A4 (GLUT4) to the plasma membrane Gap junction degradation Formation of annular gap junctions Regulation of actin dynamics for phagocytic cup formation Regulation of actin dynamics for phagocytic cup formation HATs acetylate histones Prefoldin mediated transfer of substrate to CCT/TriC Folding of actin by CCT/TriC EPHB-mediated forward signaling EPH-ephrin mediated repulsion of cells Adherens junctions interactions Adherens junctions interactions Recycling pathway of L1 Recycling pathway of L1 VEGFA-VEGFR2 Pathway Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins Cell-extracellular matrix interactions B-WICH complex positively regulates rRNA expression RHO GTPases activate IQGAPs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate WASPs and WAVEs RHO GTPases Activate Formins RHO GTPases Activate Formins MAP2K and MAPK activation UCH proteinases DNA Damage Recognition in GG-NER Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Clathrin-mediated endocytosis Signaling downstream of RAS mutants Signaling by RAF1 mutants FCGR3A-mediated phagocytosis FCGR3A-mediated phagocytosis Factors involved in megakaryocyte development and platelet production	Quercetin Phenethyl Isothiocyanate	Other phagocyte defects, including the following eight diseases: Chediak-Higashi syndrome; Griscelli syndrome, type 1 (GS1); Griscelli syndrome, type 2 (GS2); Griscelli syndrome, type 3 (GS3); beta-actin deficiency; Neutrophil-specific granule deficiency; Myeloperoxidase deficiency; Glucose 6-phosphate dehydrogenase deficiency; Shwachman syndrome
ACTN4	actinin alpha 4	Platelet degranulation Nephrin family interactions		Nephrotic syndrome and focal segmental glomerulosclerosis
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 CTLA4 inhibitory signaling 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	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
ALDOB	aldolase, fructose-bisphosphate B	Hereditary fructose intolerance Glycolysis Gluconeogenesis Fructose catabolism	1,6-Fructose Diphosphate (Linear Form) sn-glycerol 3-phosphate Dihydroxyacetone phosphate	Hereditary fructose intolerance; Fructosemia
BAAT	bile acid-CoA:amino acid N-acyltransferase	Recycling of bile acids and salts Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Peroxisomal protein import Peroxisomal protein import	Glycine	Peroxisomal beta-oxidation enzyme deficiency, including: Acyl-CoA oxidase (ACOX) deficiency; D-bifunctional protein (DBP) deficiency; Perrault syndrome; Sterol carrier protein X (SCPx) deficiency; 2-Methylacyl-CoA racemase (AMCR) deficiency; Hypercholanemia
CCND2	cyclin D2	Cyclin D associated events in G1 Regulation of RUNX1 Expression and Activity Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)		Testicular cancer
CD44	CD44 molecule (Indian blood group)	Degradation of the extracellular matrix Cell surface interactions at the vascular wall Integrin cell surface interactions Hyaluronan uptake and degradation Neutrophil degranulation Interferon gamma signaling	Bivatuzumab Hyaluronic acid	Gastric cancer
GLIS2	GLIS family zinc finger 2			Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2)
HUWE1	HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	Neutrophil degranulation Antigen processing: Ubiquitination & Proteasome degradation		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)
MAP2K1	mitogen-activated protein kinase kinase 1	MAPK3 (ERK1) activation Frs2-mediated activation Signal transduction by L1 Uptake and function of anthrax toxins RAF activation MAP2K and MAPK activation Negative feedback regulation of MAPK pathway MAP3K8 (TPL2)-dependent MAPK1/3 activation Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by MAP2K mutants Signaling by RAF1 mutants	K-252a 5-Bromo-N-[(2S)-2,3-dihydroxypropoxy]-3,4-difluoro-2-[(2-fluoro-4-iodophenyl)amino]benzamide Cobimetinib Bosutinib (5S)-4,5-difluoro-6-[(2-fluoro-4-iodophenyl)imino]-N-(2-hydroxyethoxy)cyclohexa-1,3-diene-1-carboxamide 2-[(2-chloro-4-iodophenyl)amino]-N-{[(2R)-2,3-dihydroxypropyl]oxy}-3,4-difluorobenzamide PD-0325901 N-(5-{3,4-difluoro-2-[(2-fluoro-4-iodophenyl)amino]phenyl}-1,3,4-oxadiazol-2-yl)ethane-1,2-diamine 2-[(4-ETHYNYL-2-FLUOROPHENYL)AMINO]-3,4-DIFLUORO-N-(2-HYDROXYETHOXY)BENZAMIDE Trametinib Selumetinib	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)
MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	Methylation Sulfur amino acid metabolism Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective MTR causes methylmalonic aciduria and homocystinuria type cblG	Cyanocobalamin Tetrahydrofolic acid Methionine Hydroxocobalamin Mecobalamin Thimerosal	Spina bifida
ORC4	origin recognition complex subunit 4	E2F-enabled inhibition of pre-replication complex formation Activation of ATR in response to replication stress Assembly of the ORC complex at the origin of replication CDC6 association with the ORC:origin complex CDT1 association with the CDC6:ORC:origin complex Assembly of the pre-replicative complex Orc1 removal from chromatin Activation of the pre-replicative complex		Patella dysplasias, including: Small patella syndrome (SPS); Nail-patella syndrome; Ear-patella-short statute syndrome
PDGFRA	platelet derived growth factor receptor alpha	PIP3 activates AKT signaling Downstream signal transduction Signaling by PDGF Constitutive Signaling by Aberrant PI3K in Cancer RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants Imatinib-resistant PDGFR mutants Sunitinib-resistant PDGFR mutants Regorafenib-resistant PDGFR mutants Sorafenib-resistant PDGFR mutants PDGFR mutants bind TKIs	Becaplermin Imatinib Sunitinib XL820 Olaratumab Pazopanib Midostaurin Regorafenib Ponatinib Lenvatinib Nintedanib Foreskin keratinocyte (neonatal) Fostamatinib Erdafitinib Amuvatinib Ripretinib	Glioma
PEX19	peroxisomal biogenesis factor 19	ABC transporters in lipid homeostasis Class I peroxisomal membrane protein import Class I peroxisomal membrane protein import		Zellweger syndrome spectrum, including: Zellweger syndrome (ZS); Adrenoleukodystrophy, neonatal (NALD); Infantile Refsum disease (IRD)
RASA1	RAS p21 protein activator 1	Downstream signal transduction EPHB-mediated forward signaling EPHB-mediated forward signaling VEGFR2 mediated cell proliferation Regulation of RAS by GAPs PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases		RASA1-related disorders, including: Parkes-Weber slndrome; Capillary malformation-arteriovenous malformation (CM-AVM); Arteriovenous fistula (AVF)
RIN2	Ras and Rab interactor 2	RAB GEFs exchange GTP for GDP on RABs		Macrocephaly, alopecia, cutis laxa, and scoliosis; MACS syndrome
RPL11	ribosomal protein L11	L13a-mediated translational silencing of Ceruloplasmin expression Peptide chain elongation SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane Viral mRNA Translation Selenocysteine synthesis Major pathway of rRNA processing in the nucleolus and cytosol Formation of a pool of free 40S subunits GTP hydrolysis and joining of the 60S ribosomal subunit Eukaryotic Translation Termination Regulation of expression of SLITs and ROBOs Response of EIF2AK4 (GCN2) to amino acid deficiency Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	(S)-3-phenyllactic acid Anisomycin Puromycin	Diamond-Blackfan anemia (DBA)
RPS7	ribosomal protein S7	L13a-mediated translational silencing of Ceruloplasmin expression Peptide chain elongation SRP-dependent cotranslational protein targeting to membrane SRP-dependent cotranslational protein targeting to membrane Viral mRNA Translation Selenocysteine synthesis rRNA modification in the nucleus and cytosol Major pathway of rRNA processing in the nucleolus and cytosol Translation initiation complex formation Formation of a pool of free 40S subunits Formation of the ternary complex, and subsequently, the 43S complex Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit Eukaryotic Translation Termination Regulation of expression of SLITs and ROBOs Response of EIF2AK4 (GCN2) to amino acid deficiency Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)		Diamond-Blackfan anemia (DBA)
TERT	telomerase reverse transcriptase	Telomere Extension By Telomerase Formation of the beta-catenin:TCF transactivating complex	Zidovudine Grn163l Tertomotide	Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
TPI1	triosephosphate isomerase 1	Glycolysis Gluconeogenesis	Zinc N-Hydroxy-4-Phosphono-Butanamide 2-Phosphoglycolic Acid Phosphoglycolohydroxamic Acid 3-(2-Benzothiazolylthio)-1-Propanesulfonic Acid [2(Formyl-Hydroxy-Amino)-Ethyl]-Phosphonic Acid 5-fluorotryptophan 2-Carboxyethylphosphonic Acid tert-butanol Dihydroxyacetone phosphate 1,4-Dithiothreitol 3-phospho-D-glyceric acid 3-(BUTYLSULPHONYL)-PROPANOIC ACID Artenimol Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Anemia due to disorders of glycolytic enzymes, including: Hexokinase (HK) deficiency; Phosphoglycerate kinase 1 (PGK1) deficiency; Triose-phosphate isomerase (TPI) deficiency; Glucose phosphate isomerase (GPI) deficiency; Bisphosphoglycerate mutase (BPGM) deficiency

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