DAXX - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ADGRF3	adhesion G protein-coupled receptor F3
Novel	CDSN	corneodesmosin	Formation of the cornified envelope		Hypotrichosis simplex of scalp
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	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
	ACVR2A	activin A receptor type 2A	Signaling by NODAL Regulation of signaling by NODAL Signaling by Activin Signaling by Activin Signaling by BMP	Sotatercept
	AIRE	autoimmune regulator			Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
	AMOTL2	angiomotin like 2	Signaling by Hippo
	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
	BTBD6	BTB domain containing 6	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
	CA12	carbonic anhydrase 12	Reversible hydration of carbon dioxide	Benzthiazide Hydroflumethiazide Acetazolamide Zonisamide Ellagic acid
	CALCOCO2	calcium binding and coiled-coil domain 2
	CARD9	caspase recruitment domain family member 9	NOD1/2 Signaling Pathway CLEC7A (Dectin-1) signaling		Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)

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