SMN2 and DHX9

Data Source:
HPRD (in vivo, in vitro)

		SMN2	DHX9
Description		survival of motor neuron 2, centromeric	DExH-box helicase 9
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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 Neuron Projection Perikaryon Gemini Of Coiled Bodies	Intracellular Anatomical Structure Nucleus Nucleoplasm Perichromatin Fibrils Nucleolus Cytoplasm Centrosome Cytosol Polysome Actin Cytoskeleton Membrane RISC Complex Nuclear Body Protein-containing Complex Cytoplasmic Ribonucleoprotein Granule Polysomal Ribosome RISC-loading Complex CRD-mediated MRNA Stability Complex Nuclear Stress Granule Ribonucleoprotein Complex
	Molecular Function	RNA Binding Protein Binding Identical Protein Binding	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding RNA Polymerase II Complex Binding Regulatory Region RNA Binding RNA Polymerase II Transcription Factor Binding DNA Binding DNA Helicase Activity DNA Replication Origin Binding Double-stranded DNA Binding Single-stranded DNA Binding Transcription Coregulator Activity Transcription Coactivator Activity RNA Binding RNA Helicase Activity Double-stranded RNA Binding Single-stranded RNA Binding MRNA Binding Protein Binding ATP Binding ATPase Activity Nucleoside-triphosphatase Activity Chromatin DNA Binding 3'-5' DNA/RNA Helicase Activity 3'-5' RNA Helicase Activity SiRNA Binding RNA Stem-loop Binding 3'-5' DNA Helicase Activity Triplex DNA Binding Metal Ion Binding Nucleoside-triphosphate Diphosphatase Activity Importin-alpha Family Protein Binding RNA Polymerase Binding RISC Complex Binding Polysome Binding Single-stranded 3'-5' DNA Helicase Activity Sequence-specific MRNA Binding Promoter-specific Chromatin Binding
	Biological Process	Spliceosomal Complex Assembly Spliceosomal SnRNP Assembly DNA-templated Transcription, Termination Nervous System Development Import Into Nucleus	Alternative MRNA Splicing, Via Spliceosome MRNA Splicing, Via Spliceosome Osteoblast Differentiation DNA Replication DNA-templated Transcription, Termination Regulation Of Transcription By RNA Polymerase II Inflammatory Response RNA Secondary Structure Unwinding Targeting Of MRNA For Destruction Involved In RNA Interference Positive Regulation Of Type I Interferon Production DNA Duplex Unwinding Positive Regulation Of Interferon-alpha Production Positive Regulation Of Interferon-beta Production Positive Regulation Of Interleukin-18 Production Positive Regulation Of Interleukin-6 Production Positive Regulation Of Tumor Necrosis Factor Production Cellular Protein-containing Complex Assembly DNA-templated Viral Transcription G-quadruplex DNA Unwinding Innate Immune Response Positive Regulation Of Innate Immune Response Positive Regulation Of DNA Repair Positive Regulation Of DNA Replication Positive Regulation Of Transcription By RNA Polymerase II Positive Regulation Of RNA Export From Nucleus Positive Regulation Of Fibroblast Proliferation Rhythmic Process Positive Regulation Of Viral Transcription Regulation Of MRNA Processing Regulation Of Defense Response To Virus By Host Positive Regulation Of Inflammatory Response MRNA Transport Positive Regulation Of NF-kappaB Transcription Factor Activity Positive Regulation Of Response To Cytokine Stimulus Pyroptosis Small RNA Loading Onto RISC CRD-mediated MRNA Stabilization Cellular Response To Tumor Necrosis Factor Cellular Response To Exogenous DsRNA Protein Localization To Cytoplasmic Stress Granule Positive Regulation Of Viral Translation Positive Regulation Of Polysome Binding Positive Regulation Of DNA Topoisomerase (ATP-hydrolyzing) Activity Positive Regulation Of Gene Silencing By MiRNA Regulation Of Cytoplasmic Translation Positive Regulation Of Cytoplasmic Translation
Pathways		snRNP Assembly	RIP-mediated NFkB activation via ZBP1 DEx/H-box helicases activate type I IFN and inflammatory cytokines production mRNA Splicing - Major Pathway
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	43 interacting genes: ACTA1 AKAP8L APBB1 BRCA1 DDX20 DDX5 DUX4 EIF2AK2 ESR1 GEMIN2 GEMIN4 GTF2B H2AX HDLBP HNRNPC HNRNPK IL7R ILF3 JUN KHDRBS1 LINC01554 MBD2 NXF1 OGA PCNA POLR2A PRMT1 PRPF40A PRPF8 PTEN RBM4 RELA SMN1 SMN2 SNRPB SNRPB2 SRPK1 SSRP1 STAU1 TBP TOP2A UBE2I YWHAQ
Entrez ID		6607	1660
HPRD ID		09036	04386
Ensembl ID		ENSG00000205571	ENSG00000135829
Uniprot IDs		B4DP61 E7EQZ4 Q16637	B3KU66 Q08211
PDB IDs		1G5V 1MHN 2LEH 4A4E 4A4G 4GLI 4QQ6 5XJL 5XJQ 5XJR 5XJS 5XJT 5XJU	3LLM 3VYX 3VYY
Enriched GO Terms of Interacting Partners?
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