Property Summary

NCBI Gene PubMed Count 171
Grant Count 318
R01 Count 192
Funding $64,982,019.06
PubMed Score 450.76
PubTator Score 300.79

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q16637 A8K0V4 Q13119 Q549U5 Q96J51
Symbols SMNC
BCD541
GEMIN1
TDRD16B
C-BCD541

Gene

PDB

3S6N   2LEH   1G5V   1MHN   4A4E   4A4G   4GLI   4NL6   4NL7   4QQ6  

MLP Assay (8)

AID Type Active / Inconclusive / Inactive Description
1458 confirmatory 5854 / 9724 / 193105 qHTS Assay for Enhancers of SMN2 Splice Variant Expression
1474 summary 17 / 6 / 15 Quantitative High-Throughput Screen for Enhancers of SMN2 Splice Variant Expression: Summary
1739 confirmatory 13 / 19 / 56 Counterscreen Assay for Enhancers of SMN2 Splice Variant Expression: Modulation of SMN1 Expression
1740 confirmatory 8 / 12 / 63 Confirmation Concentration-Response Assay for Enhancers of SMN2 Splice Variant Expression
2513 confirmatory 1 / 6 / 22 Counterscreen Assay for Enhancers of SMN2 Splice Variant Expression: Modulation of SMN1 Expression for Probe SAR
2514 confirmatory 16 / 4 / 9 Confirmation Concentration-Response Assay for Enhancers of SMN2 Splice Variant Expression for Probe SAR
488821 confirmatory 30 / 31 / 73 Counterscreen Assay for Enhancers of SMN2 Splice Variant Expression: Modulation of SMN1 Expression for Further Probe SAR
488832 confirmatory 78 / 25 / 31 Confirmation Concentration-Response Assay for Enhancers of SMN2 Splice Variant Expression for Further Probe SAR

Gene RIF (112)

PMID Text
27030765 This study demonstrated that Deficiency of the Survival of SMN2 Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons
26739529 Thus, we can conclude that SMN2 methylation may regulate the SMA disease phenotype by modulating its transcription.
26665550 In the Serbian patients with spinal muscular atrophy, a higher SMN2 gene copy number correlated with less severe disease phenotype.
26468953 Loss of SMN2 expression is associated with Spinal muscular atrophy.
26311540 Inverse correlation was observed between SMN2, SERF1A and NAIP copy number polymorphism and spinal muscular atrophy type.
25888055 The copy numbers and gene structures of SMN2 genes were different in Chinese spinal muscular atrophy patients and healthy controls.
25859009 Smn complex deficiency caused constipation, delayed gastric emptying, slow intestinal transit and reduced colonic motility.
25781985 results indicate that high expression level of Tra2-beta1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice.
25561692 Missense point mutations in the C-terminal domain of SMN2 leads to loss of small nuclear ribonucleoprotein assembly.
25506695 Depletion of two of the most potent inhibitors of SMP2 exon 7 inclusion, SRSF2 or SRSF3, in cell lines derived from SMA patients, increased SMN2 exon 7 inclusion and SMN protein level.
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AA Sequence

MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTP      1 - 70
KRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSD     71 - 140
LLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKP    141 - 210
GLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGF    211 - 280
RQNQKEGRCSHSLN                                                            281 - 294
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Text Mined References (192)

PMID Year Title
27030765 2016 Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons.
26739529 2016 Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.
26700805 2016 SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination.
26665550 2015 Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.
26468953 2015 Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.
26311540 2015 Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.
25888055 2015 Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.
25859009 2015 SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice.
25781985 2015 High expression level of Tra2-?1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice.
25561692 2015 The SMN structure reveals its crucial role in snRNP assembly.
More...