DAXX - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	COL11A2	collagen type XI alpha 2 chain	Collagen degradation Collagen degradation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Non-integrin membrane-ECM interactions MET activates PTK2 signaling Collagen chain trimerization		Ossification of the posterior longitudinal ligament of spine (OPLL) Deafness, autosomal dominant Type XI collagenopathies, including: Stickler syndrome type 2; Stickler syndrome type 3; Otospondylomegaepiphyseal dysplasia (OSMED); Marshall syndrome; Weissenbacher-Zweymuller syndrome Deafness, autosomal recessive
Novel	CDSN	corneodesmosin	Formation of the cornified envelope		Hypotrichosis simplex of scalp
Novel	ADGRF3	adhesion G protein-coupled receptor F3
Novel	DXO	decapping exoribonuclease
Novel	FBXO25	F-box protein 25
Novel	GNL1	G protein nucleolar 1 (putative)
Novel	GTF2H4	general transcription factor IIH subunit 4	Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex Formation of HIV elongation complex in the absence of HIV Tat Formation of the HIV-1 Early Elongation Complex RNA Pol II CTD phosphorylation and interaction with CE during HIV infection HIV Transcription Initiation RNA Polymerase II HIV Promoter Escape Transcription of the HIV genome Formation of HIV-1 elongation complex containing HIV-1 Tat Tat-mediated elongation of the HIV-1 transcript NoRC negatively regulates rRNA expression Formation of Incision Complex in GG-NER Dual Incision in GG-NER RNA Polymerase II Pre-transcription Events 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 DNA Repair Genes mRNA Capping RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase II Promoter Escape RNA Polymerase II Transcription Pre-Initiation And Promoter Opening RNA Polymerase I Transcription Termination RNA Polymerase II Transcription Initiation RNA Polymerase II Transcription Elongation RNA Polymerase II Transcription Initiation And Promoter Clearance RNA Pol II CTD phosphorylation and interaction with CE
Novel	H2BC15	H2B clustered histone 15	Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence HDACs deacetylate histones HATs acetylate histones HATs acetylate histones SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Ub-specific processing proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends Deposition of new CENPA-containing nucleosomes at the centromere G2/M DNA damage checkpoint RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape E3 ubiquitin ligases ubiquitinate target proteins RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination HCMV Early Events HCMV Late Events Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Amyloid fiber formation
Novel	IKBKE	inhibitor of nuclear factor kappa B kinase subunit epsilon	SUMOylation of immune response proteins TICAM1-dependent activation of IRF3/IRF7 TRAF3-dependent IRF activation pathway TRAF6 mediated IRF7 activation Negative regulators of DDX58/IFIH1 signaling Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon	Fostamatinib
Novel	NRG2	neuregulin 2	Signaling by ERBB2 Signaling by ERBB4 Signaling by ERBB4 SHC1 events in ERBB2 signaling SHC1 events in ERBB2 signaling PI3K events in ERBB4 signaling SHC1 events in ERBB4 signaling Nuclear signaling by ERBB4 PIP3 activates AKT signaling GRB7 events in ERBB2 signaling Downregulation of ERBB2:ERBB3 signaling GRB2 events in ERBB2 signaling PI3K events in ERBB2 signaling Constitutive Signaling by Aberrant PI3K in Cancer RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ERBB2 Activates PTK6 Signaling Downregulation of ERBB2 signaling Signaling by ERBB2 KD Mutants Signaling by ERBB2 TMD/JMD mutants
	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)
	PTEN	phosphatase and tensin homolog	Synthesis of PIPs at the plasma membrane Synthesis of IP3 and IP4 in the cytosol Negative regulation of the PI3K/AKT network Downstream TCR signaling TP53 Regulates Metabolic Genes PTEN Loss of Function in Cancer Ub-specific processing proteases Ovarian tumor domain proteases Regulation of PTEN mRNA translation Regulation of PTEN localization Regulation of PTEN stability and activity Transcriptional Regulation by MECP2	Phosphatidylethanolamine	Vulvar cancer Prostate cancer Endometrial Cancer Glioma Small cell lung cancer Breast cancer Hepatocellular carcinoma Malignant melanoma
	TP63	tumor protein p63	Activation of PUMA and translocation to mitochondria TP53 Regulates Metabolic 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 Regulation of TP53 Activity through Association with Co-factors		Limb-mammary syndrome ADULT syndrome Split-hand/foot malformation (SHFM) Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome) Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
	MDM2	MDM2 proto-oncogene	AKT phosphorylates targets in the cytosol Oxidative Stress Induced Senescence Oncogene Induced Senescence SUMOylation of transcription factors SUMOylation of ubiquitinylation proteins Trafficking of AMPA receptors Constitutive Signaling by AKT1 E17K in Cancer Ub-specific processing proteases Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Methylation Stabilization of p53 Regulation of RUNX3 expression and activity	Zinc Cis-[4,5-Bis-(4-Bromophenyl)-2-(2-Ethoxy-4-Methoxyphenyl)-4,5-Dihydroimidazol-1-Yl]-[4-(2-Hydroxyethyl)Piperazin-1-Yl]Methanone Cis-[4,5-Bis-(4-Chlorophenyl)-2-(2-Isopropoxy-4-Methoxyphenyl)-4,5-Dihyd Roimidazol-1-Yl]-Piperazin-1-Yl-Methanone Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Choriocarcinoma Osteosarcoma Glioma Penile cancer Alveolar rhabdomyosarcoma
	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
	ATM	ATM serine/threonine kinase	DNA Damage/Telomere Stress Induced Senescence Regulation of HSF1-mediated heat shock response Autodegradation of the E3 ubiquitin ligase COP1 HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 Regulates Transcription of Caspase Activators and Caspases Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Methylation G2/M DNA damage checkpoint Stabilization of p53 Meiotic recombination Pexophagy	Caffeine	Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome 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) Chronic lymphocytic leukemia (CLL)
	ATRX	ATRX chromatin remodeler	Inhibition of DNA recombination at telomere Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations		Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS) Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX) Non-syndromic X-linked mental retardation 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
	FAS	Fas cell surface death receptor	Caspase activation via Death Receptors in the presence of ligand Regulation by c-FLIP RIPK1-mediated regulated necrosis CASP8 activity is inhibited TP53 Regulates Transcription of Death Receptors and Ligands Dimerization of procaspase-8 FasL/ CD95L signaling		Hodgkin lymphoma Esophageal cancer Chronic lymphocytic leukemia (CLL) Adult T-cell leukemia
	MEN1	menin 1	Formation of the beta-catenin:TCF transactivating complex SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription Deactivation of the beta-catenin transactivating complex Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) RHO GTPases activate IQGAPs Post-translational protein phosphorylation		Carcinoid Adrenal carcinoma Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT) Malignant islet cell carcinoma
	PAX3	paired box 3	HATs acetylate histones		Alveolar rhabdomyosarcoma Craniofacial-deafness-hand syndrome Waardenburg syndrome (WS)

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