RMI2

Description		RecQ mediated genome instability 2
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GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytosol Nuclear Speck RecQ Family Helicase-topoisomerase III Complex
	Molecular Function	DNA Binding Protein Binding
	Biological Process	Double-strand Break Repair Via Homologous Recombination DNA Replication DNA Repair Regulation Of Sister Chromatid Segregation Maintenance Of RDNA Resolution Of DNA Recombination Intermediates Negative Regulation Of Double-strand Break Repair Via Homologous Recombination
Pathways		HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2
Drugs
Diseases
GWAS		Allergic disease (asthma, hay fever or eczema) ( 29083406) Allergic rhinitis ( 30013184) Asthma (adult onset) ( 31036433) Asthma (childhood onset) ( 31036433) Crohn's disease ( 28067908) Glycated hemoglobin levels ( 34059833) HDL cholesterol ( 25961943) High light scatter reticulocyte count ( 32888494) High light scatter reticulocyte percentage of red cells ( 32888494) Inflammatory bowel disease ( 28067908 23128233) Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular) ( 23603761) Mean corpuscular hemoglobin concentration ( 32888494) Mean corpuscular volume ( 32888494) Mean spheric corpuscular volume ( 32888494) Multiple sclerosis ( 24076602) Platelet count ( 32888494) Platelet distribution width ( 32888494) Plateletcrit ( 32888494) Red cell distribution width ( 32888494) Reticulocyte count ( 32888494) Reticulocyte fraction of red cells ( 32888494) Vein graft stenosis in coronary artery bypass grafting ( 25881214)
Interacting Genes		2 interacting genes: FANCM NOTCH3
Entrez ID		116028
HPRD ID		14497
Ensembl ID		ENSG00000175643
Uniprot IDs		Q96E14
PDB IDs		3MXN 3NBH 4DAY
Enriched GO Terms of Interacting Partners?		Glomerular Capillary Formation Neuroblast Differentiation Double-strand Break Repair Via Synthesis-dependent Strand Annealing Four-way Junction Helicase Activity FANCM-MHF Complex Positive Regulation Of Protein Monoubiquitination Regulation Of Protein Monoubiquitination 3'-5' DNA Helicase Activity Fanconi Anaemia Nuclear Complex Resolution Of Meiotic Recombination Intermediates Four-way Junction DNA Binding Neuron Fate Commitment Replication Fork Processing Interstrand Cross-link Repair Homologous Recombination
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