SMN2

Description		survival of motor neuron 2, centromeric
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GO Annotations	Cellular Component	Nucleus Nucleoplasm Cytoplasm Cytosol Cajal Body Nuclear Body Z Disc Axon SMN Complex SMN-Sm Protein Complex Cytoplasmic Ribonucleoprotein Granule Cell Projection Neuron Projection Perikaryon Gemini Of Cajal Bodies
	Molecular Function	RNA Binding Protein Binding Identical Protein Binding
	Biological Process	Spliceosomal Complex Assembly RNA Splicing, Via Transesterification Reactions Spliceosomal SnRNP Assembly DNA-templated Transcription Termination MRNA Processing Nervous System Development RNA Splicing
Pathways		snRNP Assembly SARS-CoV-2 modulates host translation machinery
Drugs		Nusinersen
Diseases		Spinal muscular atrophy (SMA), including: SMA type I (SMA1) / Werdning-Hoffman disease; SMA type II (SMA2); SMA type III (SMA3) / Kugeleberg-Welander disease; SMA type IV (SMA4); X-linked SMA 2 (SMAX2); X-linked distal SMA 3 (DSMAX); Distal SMA autosomal recessive type 4 (DSMA4); Congenital distal spinal muscular atrophy (SMAL); SMA proximal adult autosomal dominant (SMAPAD)
GWAS
Novel Interacting Genes		37 novel interacting genes: BLOC1S6 BYSL CHTOP DDX20 DHX9 EHHADH FAM9B FBL FNDC11 GAR1 GEMIN2 HNRNPUL1 IQUB KRTAP19-6 KRTAP19-7 KRTAP21-2 KRTAP6-1 KRTAP6-2 MAGED1 MBD2 POLR1C POLR2A PPIG SMN1 SNRPB SNRPB2 SNRPD1 SNRPD2 SNRPD3 SNRPE SNRPF SNRPG SNU13 SPANXN2 TIAL1 USP9X VPS28
Interacting Genes		37 interacting genes: BLOC1S6 BYSL CHTOP DDX20 DHX9 EHHADH FAM9B FBL FNDC11 GAR1 GEMIN2 HNRNPUL1 IQUB KRTAP19-6 KRTAP19-7 KRTAP21-2 KRTAP6-1 KRTAP6-2 MAGED1 MBD2 POLR1C POLR2A PPIG SMN1 SNRPB SNRPB2 SNRPD1 SNRPD2 SNRPD3 SNRPE SNRPF SNRPG SNU13 SPANXN2 TIAL1 USP9X VPS28
Entrez ID		6607
HPRD ID		09036
Ensembl ID		ENSG00000205571
Uniprot IDs		B4DP61 E7EQZ4 Q16637
PDB IDs		1G5V 1MHN 2LEH 4A4E 4A4G 4GLI 4QQ6 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU 7W2P 7W30
Enriched GO Terms of Interacting Partners?		SMN-Sm Protein Complex Spliceosomal SnRNP Assembly 7-methylguanosine Cap Hypermethylation Spliceosomal Complex Assembly U1 SnRNP U4 SnRNP Methylosome Protein-RNA Complex Assembly U2-type Prespliceosome Assembly RNA Splicing, Via Transesterification Reactions RNA Splicing U2 SnRNP U2-type Precatalytic Spliceosome U2-type Spliceosomal Complex U2-type Catalytic Step 2 Spliceosome Small Nuclear Ribonucleoprotein Complex U5 SnRNP U4/U6 X U5 Tri-snRNP Complex RNA Processing U12-type Spliceosomal Complex MRNA Processing PICln-Sm Protein Complex MRNA Splicing, Via Spliceosome Ribonucleoprotein Complex MRNA Metabolic Process U7 SnRNP Precatalytic Spliceosome Spliceosomal Complex RNA Methylation RNA Metabolic Process Catalytic Step 2 Spliceosome RNA Binding RNA Modification Macromolecule Methylation Nucleic Acid Metabolic Process Nucleobase-containing Compound Metabolic Process Methylation Nucleoplasm Telomerase Holoenzyme Complex Protein-containing Complex Assembly Spliceosomal Tri-snRNP Complex Cellular Component Assembly Protein-containing Complex Organization Cytosol SMN Complex Gemini Of Cajal Bodies DNA-templated Transcription Termination Telomerase RNA Binding Intermediate Filament Histone Pre-mRNA DCP Binding
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