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SMN2

Description survival of motor neuron 2, centromeric
Image
GO Annotations Cellular Component
  • Nucleus
  • Nucleoplasm
  • Cytoplasm
  • Cytosol
  • Cajal Body
  • Nuclear Body
  • Z Disc
  • Axon
  • SMN Complex
  • SMN-Sm Protein Complex
  • Cytoplasmic Ribonucleoprotein Granule
  • Neuron Projection
  • Perikaryon
  • Gemini Of Coiled Bodies
Molecular Function
  • RNA Binding
  • Protein Binding
  • Identical Protein Binding
Biological Process
  • Spliceosomal Complex Assembly
  • Spliceosomal SnRNP Assembly
  • DNA-templated Transcription, Termination
  • Nervous System Development
  • Import Into Nucleus
Pathways
  • snRNP Assembly
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
Interacting Genes 36 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 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
Enriched GO Terms of Interacting Partners?
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© Madhavi K. Ganapathiraju 2012-2025