KMT2A - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	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 Formation of WDR5-containing histone-modifying complexes Epigenetic regulation of gene expression by MLL3 and MLL4 complexes MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Regulation of PD-L1(CD274) transcription Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome
Novel	AVP	arginine vasopressin	BMAL1:CLOCK,NPAS2 activates circadian expression Vasopressin-like receptors G alpha (q) signalling events G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI) Organic anion transport by SLCO transporters Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)		Neurohypophyseal diabetes insipidus (NPDI); Central Diabetes Insipidus
Novel	BMI1	BMI1 proto-oncogene, polycomb ring finger	Oxidative Stress Induced Senescence SUMOylation of DNA damage response and repair proteins SUMOylation of transcription cofactors SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA methylation proteins RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of PTEN gene transcription Regulation of PTEN gene transcription Transcriptional Regulation by E2F6		Penile cancer
Novel	CBX4	chromobox 4	Oxidative Stress Induced Senescence SUMOylation of DNA damage response and repair proteins SUMOylation of transcription cofactors SUMOylation of chromatin organization proteins SUMOylation of RNA binding proteins SUMOylation of DNA methylation proteins RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of PTEN gene transcription Regulation of PTEN gene transcription
Novel	CKMT1A	creatine kinase, mitochondrial 1A	Creatine metabolism	Creatine Phosphocreatine
Novel	CREBBP	CREB binding lysine acetyltransferase	Regulation of gene expression by Hypoxia-inducible Factor BMAL1:CLOCK,NPAS2 activates circadian 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 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 SARS-CoV-2 activates/modulates innate and adaptive immune responses Cytoprotection by HMOX1 Heme signaling Nuclear events mediated by NFE2L2 NPAS4 regulates expression of target genes Formation of paraxial mesoderm NFE2L2 regulating inflammation associated genes NFE2L2 regulating anti-oxidant/detoxification enzymes NFE2L2 regulates pentose phosphate pathway genes NFE2L2 regulating tumorigenic genes NFE2L2 regulating MDR associated enzymes NFE2L2 regulating ER-stress associated genes Regulation of NFE2L2 gene expression Regulation of NFE2L2 gene expression Zygotic genome activation (ZGA) Evasion by RSV of host interferon responses 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 Transcriptional and post-translational regulation of MITF-M expression and activity Transcriptional and post-translational regulation of MITF-M expression and activity Regulation of PD-L1(CD274) transcription Expression of BMAL (ARNTL), CLOCK, and NPAS2 Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex RORA,B,C and NR1D1 (REV-ERBA) regulate gene expression	Colforsin 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE	Rubinstein-Taybi syndrome
Novel	CTNNB1	catenin beta 1	Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade TCF dependent signaling in response to WNT Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production Apoptotic cleavage of cell adhesion proteins Deactivation of the beta-catenin transactivating complex Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) Ca2+ pathway Adherens junctions interactions Binding of TCF/LEF:CTNNB1 to target gene promoters Disassembly of the destruction complex and recruitment of AXIN to the membrane Disassembly of the destruction complex and recruitment of AXIN to the membrane VEGFR2 mediated vascular permeability Myogenesis Myogenesis Signaling by GSK3beta mutants CTNNB1 S33 mutants aren't phosphorylated CTNNB1 S37 mutants aren't phosphorylated CTNNB1 S45 mutants aren't phosphorylated CTNNB1 T41 mutants aren't phosphorylated RHO GTPases activate IQGAPs Transcriptional Regulation by VENTX InlA-mediated entry of Listeria monocytogenes into host cells RUNX3 regulates WNT signaling Cardiogenesis Germ layer formation at gastrulation Regulation of CDH11 function Regulation of CDH11 function Regulation of CDH19 Expression and Function Regulation of CDH1 Function Degradation of CDH1 Regulation of CDH1 posttranslational processing and trafficking to plasma membrane Formation of paraxial mesoderm Formation of axial mesoderm Formation of definitive endoderm Somitogenesis Regulation of MITF-M-dependent genes involved in pigmentation Regulation of MITF-M-dependent genes involved in cell cycle and proliferation Formation of the nephric duct CDH11 homotypic and heterotypic interactions Specification of the neural plate border High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells Transcriptional and post-translational regulation of MITF-M expression and activity Regulation of PD-L1(CD274) transcription	Urea	Pilomatricoma; Epithelioma calcificans of Malherbe Gastric cancer Hepatocellular carcinoma Thyroid cancer Colorectal cancer Endometrial Cancer
Novel	DCTN1	dynactin subunit 1	MHC class II antigen presentation HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand XBP1(S) activates chaperone genes COPI-mediated anterograde transport COPI-independent Golgi-to-ER retrograde traffic Signaling by ALK fusions and activated point mutants		Perry syndrome Amyotrophic lateral sclerosis (ALS); Lou Gehrig's disease Distal hereditary motor neuropathies (dHMN)
Novel	EXOSC5	exosome component 5	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	FASLG	Fas ligand	Caspase activation via Death Receptors in the presence of ligand Regulation by c-FLIP RIPK1-mediated regulated necrosis CASP8 activity is inhibited Interleukin-4 and Interleukin-13 signaling Dimerization of procaspase-8 FasL/ CD95L signaling Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models FOXO-mediated transcription of cell death genes TNFs bind their physiological receptors		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
Novel	H2AC4	H2A clustered histone 4	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 RMTs methylate histone arginines 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 UCH proteinases Ub-specific processing proteases Metalloprotease DUBs Deposition of new CENPA-containing nucleosomes at the centromere 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 Inhibition of DNA recombination at telomere Defective pyroptosis Negative Regulation of CDH1 Gene Transcription Amyloid fiber formation Chromatin modifications during the maternal to zygotic transition (MZT) 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	H2BC3	H2B clustered histone 3	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 Assembly of the ORC complex at the origin of replication 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 Defective pyroptosis Negative Regulation of CDH1 Gene Transcription Amyloid fiber formation Chromatin modifications during the maternal to zygotic transition (MZT) Replacement of protamines by nucleosomes in the male pronucleus 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	H3-3A	H3.3 histone A	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) 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 Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Defective pyroptosis Negative Regulation of CDH1 Gene Transcription Amyloid fiber formation Chromatin modifications during the maternal to zygotic transition (MZT) Replacement of protamines by nucleosomes in the male pronucleus 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	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	H3C14	H3 clustered histone 14	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	HCFC1	host cell factor C1	Transcriptional activation of mitochondrial biogenesis HATs acetylate histones UCH proteinases Formation of WDR5-containing histone-modifying complexes
Novel	HCFC2	host cell factor C2	Formation of WDR5-containing histone-modifying complexes
Novel	IL10RA	interleukin 10 receptor subunit alpha	Interleukin-10 signaling Nuclear events stimulated by ALK signaling in cancer
Novel	INPPL1	inositol polyphosphate phosphatase like 1	Synthesis of PIPs at the plasma membrane Synthesis of IP3 and IP4 in the cytosol Interleukin receptor SHC signaling Signaling by CSF1 (M-CSF) in myeloid cells
Novel	INS	insulin	Regulation of gene expression in beta cells Insulin processing Insulin processing Synthesis, secretion, and deacylation of Ghrelin Regulation of insulin secretion COPI-mediated anterograde transport PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling IRS activation Signal attenuation Insulin receptor signalling cascade Signaling by Insulin receptor Insulin receptor recycling FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes NPAS4 regulates expression of target genes Amyloid fiber formation	Glisoxepide Zinc M-Cresol Myristic acid Zinc acetate Zinc chloride Zinc sulfate, unspecified form	Permanent neonatal diabetes mellitus (PNDM) Type I diabetes mellitus Maturity onset diabetes of the young (MODY)

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