SMG6

Description		SMG6 nonsense mediated mRNA decay factor
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GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleus Chromosome Telomerase Holoenzyme Complex Nucleolus Cytoplasm Cytosol Plasma Membrane Exon-exon Junction Complex Ciliary Basal Body
	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
	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
Pathways		Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Drugs		Grn163l
Diseases
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)
Novel Interacting Genes		8 novel interacting genes: ASIC2 CCL16 CLUH INPP5K MRPL12 PRPF8 RAP1GAP2 SNAI2
Interacting Genes		5 interacting genes: MEOX2 PPP1CC RNF10 SMG5 TERT
Entrez ID		23293
HPRD ID		06502
Ensembl ID		ENSG00000070366
Uniprot IDs		Q86US8
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
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