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Survival of Motor Neuron 2, Centromeric Proteins (SMN2)

SMN2 is part of a 500 kb inverted duplication on chromosome 5q13. Additionally we are shipping Survival of Motor Neuron 2, Centromeric Antibodies (17) and Survival of Motor Neuron 2, Centromeric Kits (3) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
SMN2 6607 Q16637
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Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Wheat germ Human GST tag 10 μg Log in to see 9 Days
$405.71
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SMN2 Proteins by Origin and Source

Origin Expressed in Conjugate
Human

Top referenced Survival of Motor Neuron 2, Centromeric Proteins

  1. Human SMN2 Protein expressed in Wheat germ - ABIN1320680 : Cucchiarini, Madry, Terwilliger: Enhanced expression of the central survival of motor neuron (SMN) protein during the pathogenesis of osteoarthritis. in Journal of cellular and molecular medicine 2013 (PubMed)

More Proteins for Survival of Motor Neuron 2, Centromeric (SMN2) Interaction Partners

Human Survival of Motor Neuron 2, Centromeric (SMN2) interaction partners

  1. Thus, we can conclude that SMN2 (show SMN1 Proteins) methylation may regulate the SMA (show SMN1 Proteins) disease phenotype by modulating its transcription.

  2. This study demonstrated that Deficiency of the Survival of SMN2 (show SMN1 Proteins) Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

  3. Inverse correlation was observed between SMN2 (show SMN1 Proteins), SERF1A and NAIP (show NAIP Proteins) copy number polymorphism and spinal muscular atrophy type.

  4. Loss of SMN2 (show SMN1 Proteins) expression is associated with Spinal muscular atrophy.

  5. Depletion of two of the most potent inhibitors of SMP2 (show LPIN3 Proteins) exon 7 inclusion, SRSF2 (show SRSF2 Proteins) or SRSF3 (show SRSF3 Proteins), in cell lines derived from SMA (show SMN1 Proteins) patients, increased SMN2 (show SMN1 Proteins) exon 7 inclusion and SMN (show STMN1 Proteins) protein level.

  6. Smn (show STMN1 Proteins) complex deficiency caused constipation, delayed gastric emptying, slow intestinal transit and reduced colonic motility.

  7. results indicate that high expression level of Tra2-beta1 is responsible for increased SMN2 (show SMN1 Proteins) exon 7 inclusion in the testis of SMA (show SMN1 Proteins) mice.

  8. Missense point mutations in the C-terminal domain of SMN2 leads to loss of small nuclear ribonucleoprotein assembly.

  9. In the Serbian patients with spinal muscular atrophy, a higher SMN2 (show SMN1 Proteins) gene copy number correlated with less severe disease phenotype.

  10. The copy numbers and gene structures of SMN2 (show SMN1 Proteins) genes were different in Chinese spinal muscular atrophy patients and healthy controls.

Survival of Motor Neuron 2, Centromeric (SMN2) Protein Profile

Protein Summary

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described.

Gene names and symbols associated with SMN2

  • survival of motor neuron 2, centromeric (SMN2)
  • survival of motor neuron 1, telomeric (SMN1)
  • BCD541 protein
  • C-BCD541 protein
  • GEMIN1 protein
  • SMN2 protein
  • SMNC protein
  • TDRD16B protein

Protein level used designations for SMN2

component of gems 1 , gemin-1 , survival motor neuron protein , tudor domain containing 16B , survival of motor neuron 2, centromeric

GENE ID SPECIES
6607 Homo sapiens
461829 Pan troglodytes
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