KMT2A - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	CKMT1A	creatine kinase, mitochondrial 1A	Creatine metabolism	Creatine Phosphocreatine
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	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	LAYN	layilin		Hyaluronic acid
Novel	MCTS1	MCTS1 re-initiation and release factor
Novel	PAFAH1B2	platelet activating factor acetylhydrolase 1b catalytic subunit 2	Neutrophil degranulation COPI-independent Golgi-to-ER retrograde traffic
Novel	PLAAT4	phospholipase A and acyltransferase 4	Acyl chain remodelling of PE
Novel	PLPP2	phospholipid phosphatase 2	Sphingolipid catabolism
Novel	RDX	radixin	Recycling pathway of L1 Recycling pathway of L1 Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea	1D-myo-inositol 1,4,5-trisphosphate
Novel	TGFB2	transforming growth factor beta 2	Platelet degranulation Molecules associated with elastic fibres TGF-beta receptor signaling activates SMADs ECM proteoglycans TGFBR3 regulates TGF-beta signaling	Trabedersen	Graft-versus-host disease Allograft rejection
Novel	VWA5A	von Willebrand factor A domain containing 5A
	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
	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
	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
	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
	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
	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
	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

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