CTNNB1 - Wiki-MPM

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
CASP8	caspase 8	Apoptotic cleavage of cellular proteins Caspase activation via Death Receptors in the presence of ligand NOD1/2 Signaling Pathway TRIF-mediated programmed cell death Caspase-mediated cleavage of cytoskeletal proteins Regulation by c-FLIP RIPK1-mediated regulated necrosis CASP8 activity is inhibited TNFR1-induced proapoptotic signaling Regulation of TNFR1 signaling CLEC7A/inflammasome pathway Regulation of necroptotic cell death Dimerization of procaspase-8 Activation, myristolyation of BID and translocation to mitochondria Apoptotic execution phase FasL/ CD95L signaling TRAIL signaling TLR3-mediated TICAM1-dependent programmed cell death NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 Microbial modulation of RIPK1-mediated regulated necrosis Defective RIPK1-mediated regulated necrosis	Bryostatin 1 Bardoxolone	Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
CBL	Cbl proto-oncogene	Interleukin-6 signaling Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Spry regulation of FGF signaling Regulation of KIT signaling EGFR downregulation TGF-beta receptor signaling activates SMADs Constitutive Signaling by EGFRvIII Negative regulation of FGFR1 signaling Negative regulation of FGFR2 signaling Negative regulation of FGFR3 signaling Negative regulation of FGFR4 signaling Negative regulation of MET activity PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis InlB-mediated entry of Listeria monocytogenes into host cell InlB-mediated entry of Listeria monocytogenes into host cell Regulation of signaling by CBL Regulation of signaling by CBL Negative regulation of FLT3 FLT3 signaling by CBL mutants		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)
CDC73	cell division cycle 73	Formation of RNA Pol II elongation complex Formation of the beta-catenin:TCF transactivating complex Hedgehog 'on' state RNA Polymerase II Pre-transcription Events RNA Polymerase II Transcription Elongation E3 ubiquitin ligases ubiquitinate target proteins		Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT)
CDH15	cadherin 15	Adherens junctions interactions Myogenesis Myogenesis		Non-syndromic autosomal dominant mental retardation
CEBPA	CCAAT enhancer binding protein alpha	Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of granulopoiesis Transcriptional regulation of granulopoiesis		Acute myeloid leukemia (AML)
CHUK	component of inhibitor of nuclear factor kappa B kinase complex	Activation of NF-kappaB in B cells Activation of NF-kappaB in B cells ER-Phagosome pathway NOD1/2 Signaling Pathway TICAM1, RIP1-mediated IKK complex recruitment RIP-mediated NFkB activation via ZBP1 AKT phosphorylates targets in the cytosol Downstream TCR signaling FCERI mediated NF-kB activation TAK1 activates NFkB by phosphorylation and activation of IKKs complex Regulation of TNFR1 signaling TNFR1-induced NFkappaB signaling pathway IKBKB deficiency causes SCID IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) IkBA variant leads to EDA-ID Dectin-1 mediated noncanonical NF-kB signaling CLEC7A (Dectin-1) signaling Constitutive Signaling by AKT1 E17K in Cancer NIK-->noncanonical NF-kB signaling MAP3K8 (TPL2)-dependent MAPK1/3 activation Interleukin-1 signaling TRAF6 mediated NF-kB activation NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 IRAK1 recruits IKK complex IKK complex recruitment mediated by RIP1 IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation	Aminosalicylic acid Mesalazine Sulfasalazine Acetylcysteine	Cocoon syndrome
CREBBP	CREB binding protein	Regulation of gene expression by Hypoxia-inducible Factor RORA activates gene expression BMAL1:CLOCK,NPAS2 activates circadian gene expression Pre-NOTCH Transcription and Translation Pre-NOTCH Transcription and Translation PPARA activates gene expression PPARA activates gene expression Formation of the beta-catenin:TCF transactivating complex Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells NOTCH1 Intracellular Domain Regulates Transcription NOTCH1 Intracellular Domain Regulates Transcription Transcriptional activation of mitochondrial biogenesis Activation of gene expression by SREBF (SREBP) Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production HATs acetylate histones Attenuation phase Notch-HLH transcription pathway Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation SUMOylation of transcription cofactors Regulation of lipid metabolism by PPARalpha Circadian Clock Activation of anterior HOX genes in hindbrain development during early embryogenesis CD209 (DC-SIGN) signaling TP53 Regulates Transcription of Genes Involved in Cytochrome C Release Activation of the TFAP2 (AP-2) family of transcription factors RUNX1 regulates transcription of genes involved in differentiation of myeloid cells RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription Estrogen-dependent gene expression TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation FOXO-mediated transcription of cell death genes Regulation of FOXO transcriptional activity by acetylation Regulation of FOXO transcriptional activity by acetylation	9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE	Rubinstein-Taybi syndrome
CTNND2	catenin delta 2			Cri du chat syndrome; Cat cry syndrome; Chromosme 5p deletion syndrome
DSC3	desmocollin 3	Keratinization Formation of the cornified envelope		Hypotrichosis and recurrent skin vesicles
EP300	E1A binding protein p300	Regulation of gene expression by Hypoxia-inducible Factor RORA activates gene expression Polo-like kinase mediated events Pre-NOTCH Transcription and Translation Pre-NOTCH Transcription and Translation PPARA activates gene expression PPARA activates gene expression Formation of the beta-catenin:TCF transactivating complex Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells NOTCH1 Intracellular Domain Regulates Transcription NOTCH1 Intracellular Domain Regulates Transcription NOTCH2 intracellular domain regulates transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production HATs acetylate histones Attenuation phase Transcriptional regulation of white adipocyte differentiation Transcriptional regulation of white adipocyte differentiation SUMOylation of transcription cofactors Circadian Clock B-WICH complex positively regulates rRNA expression Activation of anterior HOX genes in hindbrain development during early embryogenesis CD209 (DC-SIGN) signaling Metalloprotease DUBs Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Methylation PI5P Regulates TP53 Acetylation Activation of the TFAP2 (AP-2) family of transcription factors RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling Regulation of RUNX3 expression and activity RUNX3 regulates p14-ARF NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription Estrogen-dependent gene expression NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux NGF-stimulated transcription NGF-stimulated transcription TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation FOXO-mediated transcription of cell death genes Transcriptional regulation of granulopoiesis Transcriptional regulation of granulopoiesis Regulation of FOXO transcriptional activity by acetylation Regulation of FOXO transcriptional activity by acetylation		Rubinstein-Taybi syndrome
FOXO1	forkhead box O1	AKT phosphorylates targets in the nucleus Regulation of gene expression in beta cells AKT-mediated inactivation of FOXO1A Constitutive Signaling by AKT1 E17K in Cancer MAPK6/MAPK4 signaling Interleukin-4 and Interleukin-13 signaling Regulation of localization of FOXO transcription factors FOXO-mediated transcription of cell death genes FOXO-mediated transcription of cell death genes FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Regulation of FOXO transcriptional activity by acetylation Regulation of FOXO transcriptional activity by acetylation FOXO-mediated transcription of cell cycle genes FOXO-mediated transcription of cell cycle genes		Alveolar rhabdomyosarcoma
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)
GRIK2	glutamate ionotropic receptor kainate type subunit 2	Activation of Na-permeable kainate receptors Activation of Ca-permeable Kainate Receptor	Glutamic acid Butabarbital Butalbital Topiramate Talbutal Pentobarbital Secobarbital Metharbital Thiopental Primidone Methylphenobarbital Phenobarbital Amobarbital Aprobarbital Butobarbital Heptabarbital Hexobarbital Barbital Dihydro-2-thioxo-5-((5-(2-(trifluoromethyl)phenyl)-2-furanyl)methyl)-4,6(1H,5H)-pyrimidinedione Domoic Acid Quisqualic acid 2s,4r-4-Methylglutamate	Nonsyndromic autosomal recessive mental retardation (NS-ARMR)
HNF1A	HNF1 homeobox A	Regulation of gene expression in beta cells	D-norleucine	Maturity onset diabetes of the young (MODY)
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)
KMT2D	lysine methyltransferase 2D	Formation of the beta-catenin:TCF transactivating complex PKMTs methylate histone lysines Deactivation of the beta-catenin transactivating complex Activation of anterior HOX genes in hindbrain development during early embryogenesis RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function		Kabuki syndrome
NDRG1	N-myc downstream regulated 1	TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain		Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
PITX2	paired like homeodomain 2	TFAP2 (AP-2) family regulates transcription of other transcription factors		Axenfeld-Rieger syndrome (ARS)
PKD1	polycystin 1, transient receptor potential channel interacting	VxPx cargo-targeting to cilium VxPx cargo-targeting to cilium		Polycystic kidney disease
PKP2	plakophilin 2	Keratinization Formation of the cornified envelope		Arrhythmogenic right ventricular cardiomyopathy (ARVC)

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