DAXX - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ACVR2A	activin A receptor type 2A	Signaling by NODAL Regulation of signaling by NODAL Signaling by Activin Signaling by Activin Signaling by BMP TGFBR3 regulates activin signaling	Sotatercept
Novel	ADGRF3	adhesion G protein-coupled receptor F3
Novel	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)
Novel	AMOTL2	angiomotin like 2	Signaling by Hippo
Novel	AR	androgen receptor	HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand 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 4-{[(1R,2S)-1,2-dihydroxy-2-methyl-3-(4-nitrophenoxy)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 Luprostiol Mibolerone Phenothiazine Gestrinone Apalutamide Clascoterone Darolutamide Esculin Ligandrol Testosterone cypionate Testosterone enanthate Testosterone undecanoate Stanolone acetate Segesterone acetate Boldenone undecylenate Echinacoside Ketodarolutamide	Spinal and bulbar muscular atrophy (SBMA); Kennedy's disease 46,XY disorders of sex development (Other), including: Persistent Mullerian duct syndrome; Hypospadias; Cryptorchidism Prostate cancer 46,XY disorders of sex development (Disorders in androgen synthesis or action), including: Congenital adrenal hyperplasias; Leydig cell hypoplasia; Androgen insensitivity syndrome (AIS)
Novel	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 Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2	Caffeine	Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome Chronic lymphocytic leukemia (CLL) 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) 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
Novel	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		Non-syndromic X-linked mental retardation Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX) 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) 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
Novel	BTBD6	BTB domain containing 6	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
Novel	CA12	carbonic anhydrase 12	Reversible hydration of carbon dioxide	Benzthiazide Hydroflumethiazide Acetazolamide Zonisamide Ellagic acid
Novel	CALCOCO2	calcium binding and coiled-coil domain 2
Novel	CARD9	caspase recruitment domain family member 9	NOD1/2 Signaling Pathway CLEC7A (Dectin-1) signaling		Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
Novel	CARM1	coactivator associated arginine methyltransferase 1	BMAL1:CLOCK,NPAS2 activates circadian expression PPARA activates gene expression PPARA activates gene expression Transcriptional activation of mitochondrial biogenesis Activation of gene expression by SREBF (SREBP) RMTs methylate histone arginines Transcriptional regulation of white adipocyte differentiation Regulation of lipid metabolism by PPARalpha TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest Estrogen-dependent gene expression Cytoprotection by HMOX1 Heme signaling Expression of BMAL (ARNTL), CLOCK, and NPAS2 RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression
Novel	CBS	cystathionine beta-synthase	Cysteine formation from homocysteine Metabolism of ingested SeMet, Sec, MeSec into H2Se	Pyridoxal phosphate Ademetionine Serine Cysteine	Homocystinuria
Novel	CDCA7L	cell division cycle associated 7 like
Novel	CDSN	corneodesmosin	Formation of the cornified envelope		Hypotrichosis simplex of scalp
Novel	CENPC	centromere protein C	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Deposition of new CENPA-containing nucleosomes at the centromere Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation
Novel	CEP63	centrosomal protein 63	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2
Novel	CEP70	centrosomal protein 70	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2
Novel	CFLAR	CASP8 and FADD like apoptosis regulator	TRAIL signaling
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 Developmental Lineage of Pancreatic Ductal Cells		Deafness, autosomal recessive Type XI collagenopathies, including: Stickler syndrome type 2; Stickler syndrome type 3; Otospondylomegaepiphyseal dysplasia (OSMED); Marshall syndrome; Weissenbacher-Zweymuller syndrome Deafness, autosomal dominant Ossification of the posterior longitudinal ligament of spine (OPLL)

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