SMG6 and SNAI2

		SMG6	SNAI2
Description		SMG6 nonsense mediated mRNA decay factor	snail family transcriptional repressor 2
Image			No pdb structure
GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleus Chromosome Telomerase Holoenzyme Complex Nucleolus Cytoplasm Cytosol Plasma Membrane Exon-exon Junction Complex Ciliary Basal Body	Chromatin Nucleus Nucleoplasm Cytoplasm Cytosol
	Molecular Function	DNA Binding RNA Binding Nuclease Activity Endonuclease Activity RNA Endonuclease Activity Protein Binding Hydrolase Activity Telomeric DNA Binding Ribonucleoprotein Complex Binding Metal Ion Binding Telomerase RNA Binding DNA Polymerase Binding	RNA Polymerase II Transcription Regulatory Region Sequence-specific DNA Binding RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA Binding Chromatin Binding Protein Binding Zinc Ion Binding Sequence-specific DNA Binding Metal Ion Binding E-box Binding Sequence-specific Double-stranded DNA Binding
	Biological Process	Nuclear-transcribed MRNA Catabolic Process, Nonsense-mediated Decay MRNA Export From Nucleus Regulation Of Telomere Maintenance Regulation Of Telomere Maintenance Via Telomerase Regulation Of Dephosphorylation Negative Regulation Of Telomere Capping	Negative Regulation Of Transcription By RNA Polymerase II Osteoblast Differentiation Epithelial To Mesenchymal Transition Aortic Valve Morphogenesis Epithelial To Mesenchymal Transition Involved In Endocardial Cushion Formation Cell Migration Involved In Endocardial Cushion Formation Chromatin Organization Regulation Of DNA-templated Transcription Substrate-dependent Cell Migration Negative Regulation Of Cell Adhesion Involved In Substrate-bound Cell Migration Notch Signaling Pathway Sensory Perception Of Sound Response To Radiation Epithelial Cell Migration Negative Regulation Of Keratinocyte Proliferation Negative Regulation Of Vitamin D Biosynthetic Process Neural Crest Cell Development Positive Regulation Of Cell Migration Negative Regulation Of Chondrocyte Differentiation Regulation Of Chemokine Production Myeloid Cell Apoptotic Process Negative Regulation Of Myeloid Cell Apoptotic Process Negative Regulation Of Cell Adhesion Mediated By Integrin Desmosome Disassembly Pigmentation Negative Regulation Of DNA Damage Response, Signal Transduction By P53 Class Mediator Endothelial Cell Migration Positive Regulation Of Fat Cell Differentiation Regulation Of Osteoblast Differentiation Mesenchymal Cell Differentiation White Fat Cell Differentiation Roof Of Mouth Development Epithelium Development Cartilage Morphogenesis Regulation Of Branching Involved In Salivary Gland Morphogenesis Negative Regulation Of Vitamin D Receptor Signaling Pathway Cellular Response To Epidermal Growth Factor Stimulus Hematopoietic Stem Cell Proliferation Cellular Response To Ionizing Radiation Negative Regulation Of Canonical Wnt Signaling Pathway Negative Regulation Of Hematopoietic Stem Cell Proliferation Negative Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Regulation Of Bicellular Tight Junction Assembly Negative Regulation Of Anoikis Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Pathways		Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	Regulation of PTEN gene transcription Regulation of PTEN gene transcription Negative Regulation of CDH1 Gene Transcription Transcriptional and post-translational regulation of MITF-M expression and activity
Drugs		Grn163l
Diseases			Waardenburg syndrome (WS) Piebaldism
GWAS		Aortic root size ( 19584346) Apolipoprotein A1 levels ( 32203549) Autism spectrum disorder or schizophrenia ( 28540026) Body mass index ( 25673413 28892062) Body size at age 10 ( 32376654) Brain morphology (MOSTest) ( 32665545) Calcaneus stiffness index ( 30779856) Cannabis use ( 30150663) Coronary artery disease ( 29212778 24262325 33020668 26343387 32469254) Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ( 28714975) Coronary heart disease ( 21378990) Esophageal cancer (squamous cell) ( 22960999) Estimated glomerular filtration rate ( 31152163) Femoral neck bone mineral density ( 29499414 32239398 22504420) Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass ( 32239398) Forehead morphology ( 29921221) Glaucoma (primary open-angle) ( 33627673) Heel bone mineral density ( 30598549 28869591) High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Hip circumference adjusted for BMI ( 34021172) Hip index ( 34021172) Intraocular pressure ( 29617998 29235454) Lymphocyte count ( 32888494) Mean corpuscular hemoglobin ( 32888494) Metabolite levels (5-HIAA) ( 23319000) Mitral valve prolapse ( 26301497) Monocyte count ( 32888494 27863252) Multiple sclerosis ( 31604244) Myocardial infarction ( 33532862 26343387) Neutrophil count ( 32888494) Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis) ( 29678681) Platelet count ( 27863252 32888494) Plateletcrit ( 27863252 32888494) Pulse pressure ( 27841878) Reticulocyte count ( 32888494) Reticulocyte fraction of red cells ( 32888494) Schizophrenia ( 29483656 25056061) Smoking initiation ( 30617275) Smoking status (ever vs never smokers) ( 30643258) Systolic blood pressure ( 27841878 30578418) Venous thromboembolism ( 31420334) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172) White blood cell count ( 32888494 27863252)	Hip index ( 34021172)
Interacting Genes		5 interacting genes: MEOX2 PPP1CC RNF10 SMG5 TERT	14 interacting genes: APP CABP2 CREBBP CSNK2A1 FBXO28 FBXO45 PIAS1 PIAS2 PIAS3 PIAS4 SAT1 TRIM23 UBE2I ZNF76
Entrez ID		23293	6591
HPRD ID		06502	03689
Ensembl ID		ENSG00000070366	ENSG00000019549
Uniprot IDs		Q86US8	O43623
PDB IDs		2DOK 2HWW 2HWX 4UM2 8RXB
Enriched GO Terms of Interacting Partners?		Regulation Of Systemic Arterial Blood Pressure By Aortic Arch Baroreceptor Feedback Nuclear Speck Regulation Of Glial Cell Proliferation Cellular Response To Epidermal Growth Factor Stimulus Negative Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Desmosome Disassembly Response To Epidermal Growth Factor Telomerase RNA Binding Telomeric DNA Binding TERT-RMRP Complex Template-free RNA Nucleotidyltransferase Positive Regulation Of Transdifferentiation RNA-directed RNA Polymerase Complex Telomerase Holoenzyme Complex SiRNA Transcription Regulation Of Dephosphorylation Positive Regulation Of Renal Water Transport Phosphatidylinositol Trisphosphate Phosphatase Activity PH-gated Sodium Channel Activity Monoatomic Ion-gated Channel Activity Roof Of Mouth Development Phosphatase Activity Negative Regulation Of Vitamin D Receptor Signaling Pathway Cell-cell Junction Disassembly Positive Regulation Of Hair Cycle Regulation Of D-glucose Transmembrane Transport Telomerase Catalytic Core Complex Cell Migration Involved In Endocardial Cushion Formation Regulation Of Stem Cell Proliferation RNA-directed RNA Polymerase Activity RNA-templated Transcription RNA-directed DNA Polymerase Activity U5 SnRNA Binding Inositol Bisphosphate Phosphatase Activity Inositol Trisphosphate Phosphatase Activity Phosphatidylinositol Phosphate 5-phosphatase Activity	SUMO Transferase Activity SUMO Ligase Activity Protein Sumoylation Post-translational Protein Modification Presynaptic Cytosol Postsynaptic Cytosol PML Body Protein Modification By Small Protein Conjugation Transcription Coregulator Activity Positive Regulation Of Protein Sumoylation Regulation Of Protein Sumoylation Negative Regulation Of Nucleobase-containing Compound Metabolic Process Protein Modification Process Protein Metabolic Process Transferase Activity Negative Regulation Of Macromolecule Biosynthetic Process Transcription Corepressor Activity Negative Regulation Of Biosynthetic Process Double-strand Break Repair Negative Regulation Of RNA Biosynthetic Process Negative Regulation Of DNA-templated Transcription Macromolecule Metabolic Process Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of Transcription By RNA Polymerase II Transferase Complex Negative Regulation Of Macromolecule Metabolic Process Positive Regulation Of Catabolic Process Negative Regulation Of RNA Metabolic Process Negative Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Metabolic Process Metal Ion Binding Positive Regulation Of Post-translational Protein Modification Double-strand Break Repair Via Homologous Recombination Negative Regulation Of DNA Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of DNA Recombination Recombinational Repair Regulation Of Double-strand Break Repair Negative Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of DNA-templated Transcription Regulation Of RNA Biosynthetic Process DNA Damage Response Positive Regulation Of Protein Metabolic Process Negative Regulation Of Double-strand Break Repair Zinc Ion Binding Negative Regulation Of DNA Repair Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Regulation Of DNA Metabolic Process Amyloid-beta Complex Growth Cone Lamellipodium
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