SETD2 - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ARX	aristaless related homeobox			Non-syndromic X-linked mental retardation 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) Early infantile epileptic encephalopathy; Ohtahara syndrome Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
Novel	ATXN1	ataxin 1			Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
Novel	CIC	capicua transcriptional repressor
Novel	EXOSC7	exosome component 7	ATF4 activates genes in response to endoplasmic reticulum stress mRNA decay by 3' to 5' exoribonuclease Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA KSRP (KHSRP) binds and destabilizes mRNA Major pathway of rRNA processing in the nucleolus and cytosol Nuclear RNA decay
Novel	GMPPB	GDP-mannose pyrophosphorylase B	Synthesis of GDP-mannose
Novel	H3-4	H3.4 histone, cluster member	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 Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex Condensation of Prophase Chromosomes DNA Damage/Telomere Stress Induced Senescence 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 G2/M DNA damage checkpoint Meiotic recombination Inhibition of DNA recombination at telomere
Novel	H3C1	H3 clustered histone 1	Interleukin-7 signaling Interleukin-7 signaling Pre-NOTCH Transcription and Translation 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) HDACs deacetylate histones PKMTs methylate histone lysines HDMs demethylate histones HATs acetylate histones HATs acetylate histones RMTs methylate histone arginines Chromatin modifying enzymes 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 Assembly of the ORC complex at the origin of replication RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape 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 Defective pyroptosis Negative Regulation of CDH1 Gene Transcription Amyloid fiber formation Chromatin modifications during the maternal to zygotic transition (MZT) Factors involved in megakaryocyte development and platelet production MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Regulation of PD-L1(CD274) transcription
Novel	HTT	huntingtin	Regulation of MECP2 expression and activity	Copper	Huntington's disease (HD)
Novel	KLHL18	kelch like family member 18
Novel	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	Complex I biogenesis		Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
Novel	SHANK3	SH3 and multiple ankyrin repeat domains 3	Neurexins and neuroligins Neurexins and neuroligins RET signaling
Novel	SIAH2	siah E3 ubiquitin protein ligase 2	Netrin-1 signaling Ub-specific processing proteases Amyloid fiber formation Antigen processing: Ubiquitination & Proteasome degradation
Novel	SMAD3	SMAD family member 3	Signaling by NODAL Signaling by NODAL Signaling by Activin Signaling by Activin Downregulation of TGF-beta receptor signaling TGF-beta receptor signaling activates SMADs Downregulation of SMAD2/3:SMAD4 transcriptional activity Downregulation of SMAD2/3:SMAD4 transcriptional activity SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription SMAD2/3 Phosphorylation Motif Mutants in Cancer SMAD4 MH2 Domain Mutants in Cancer SMAD2/3 MH2 Domain Mutants in Cancer TGFBR1 KD Mutants in Cancer Ub-specific processing proteases RUNX3 regulates CDKN1A transcription RUNX3 regulates BCL2L11 (BIM) transcription Interleukin-37 signaling NOTCH4 Intracellular Domain Regulates Transcription FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes FOXO-mediated transcription of cell cycle genes FOXO-mediated transcription of cell cycle genes SARS-CoV-1 targets host intracellular signalling and regulatory pathways Germ layer formation at gastrulation Formation of axial mesoderm Formation of definitive endoderm Formation of definitive endoderm TGFBR3 expression
Novel	SPOP	speckle type BTB/POZ protein	Hedgehog 'on' state SPOP-mediated proteasomal degradation of PD-L1(CD274)
Novel	TEX264	testis expressed 264, ER-phagy receptor	Platelet degranulation
Novel	TMA7	translation machinery associated 7 homolog
	ARX	aristaless related homeobox			Non-syndromic X-linked mental retardation 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) Early infantile epileptic encephalopathy; Ohtahara syndrome Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
	ATXN1	ataxin 1			Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
	CIC	capicua transcriptional repressor
	EXOSC7	exosome component 7	ATF4 activates genes in response to endoplasmic reticulum stress mRNA decay by 3' to 5' exoribonuclease Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA KSRP (KHSRP) binds and destabilizes mRNA Major pathway of rRNA processing in the nucleolus and cytosol Nuclear RNA decay

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