SMN2

Gene Name		survival of motor neuron 2, centromeric
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Gene Ontology Annotations	Cellular Component	Nucleus Nucleoplasm Spliceosomal Complex Cytoplasm Cytosol Cajal Body Z Disc SMN Complex SMN-Sm Protein Complex Gemini Of Coiled Bodies
	Molecular Function	RNA Binding Protein Binding Identical Protein Binding
	Biological Process	Spliceosomal Complex Assembly Spliceosomal SnRNP Assembly Nervous System Development Gene Expression NcRNA Metabolic Process
Pathways		snRNP Assembly Metabolism of non-coding RNA
Drugs
Diseases
GWAS
Protein-protein Interactions		24 interactors: BLOC1S6 BYSL CHTOP DDX20 DHX9 FAM9B FBL GAR1 GEMIN2 HNRNPUL1 POLR1C POLR2A PPIG SMN1 SNRPB SNRPB2 SNRPD1 SNRPD2 SNRPD3 SNRPE SNRPF SNRPG TIAL1 VPS28
Entrez ID		6607
HPRD ID		09036
Ensembl ID		ENSG00000205571
Uniprot IDs		B4DP61 Q16637
PDB IDs		1G5V 1MHN 2LEH 3S6N 4A4E 4A4G 4GLI
Enriched GO Terms of Interacting Partners?		MRNA Splicing, Via Spliceosome RNA Splicing, Via Transesterification Reactions Spliceosomal SnRNP Assembly RNA Splicing RNA Processing MRNA Processing Ribonucleoprotein Complex Biogenesis NcRNA Metabolic Process MRNA Metabolic Process Ribonucleoprotein Complex Assembly RNA Metabolic Process Nucleobase-containing Compound Metabolic Process Histone MRNA Metabolic Process Heterocycle Metabolic Process Cellular Aromatic Compound Metabolic Process Gene Expression Spliceosomal Complex Assembly Cellular Nitrogen Compound Metabolic Process DNA-templated Transcription, Termination Cellular Macromolecular Complex Assembly Nitrogen Compound Metabolic Process Termination Of RNA Polymerase II Transcription MRNA 3'-end Processing RNA 3'-end Processing Cellular Metabolic Process Cellular Component Assembly Transcription From RNA Polymerase II Promoter Transcription, DNA-templated RNA Biosynthetic Process RRNA Processing RRNA Metabolic Process Metabolic Process Ribosome Biogenesis Histone Glutamine Methylation Cellular Process Transcription, RNA-templated Peptidyl-glutamine Methylation Positive Regulation Of Type I Interferon Production Protein Targeting To Vacuole Involved In Ubiquitin-dependent Protein Catabolic Process Via The Multivesicular Body Sorting Pathway DNA-templated Transcription, Elongation SnoRNA Metabolic Process Cellular Macromolecule Biosynthetic Process Macromolecule Biosynthetic Process CRD-mediated MRNA Stabilization Regulation Of Type I Interferon Production Endosome Transport Via Multivesicular Body Sorting Pathway Positive Regulation Of Helicase Activity Secretion Of Lysosomal Enzymes Late Endosome To Vacuole Transport Osteoblast Differentiation
Tagcloud ?		atrophy centromeric compensate copies copy degeneration deletions detectable display donor easily exon fails fatal harbor hindering homozygous infant intragenic italian modifier muscular null predictable sma smn1 splice unusually weakness