SMN2

survival of motor neuron 2, centromeric

SMN2 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.

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Products

Proteins (7)

Type

Over-Expression Lysate (3)

Recombinant (4)

Target

SMN2 (7)

Publications

No (7)

Tag

GST (2)

GST, N-terminus (1)

Myc-DDK (Flag) (4)

Species

Human (6)

Source

293T Cells (2)

HEK 293 Cells (2)

Wheat Germ Extract (3)

Purification

Purified (2)

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Human SMN2 Protein (Recombinant GST) (Full Length) - LS-G30465

Source:

Wheat Germ Extract

Tag:

GST

Molecular Weight:

56.9 kDa

Price:

2 µg/$439

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Human SMN2 Protein (Recombinant GST) (Full Length) - LS-G30463

Source:

Wheat Germ Extract

Tag:

GST

Molecular Weight:

56.76 kDa

Price:

2 µg/$439

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Human SMN2 Protein (Recombinant GST, N-terminus) (aa191-294) - LS-G60149

Source:

Wheat Germ Extract

Tag:

GST, N-terminus

Price:

10 µg/$479; 25 µg/$670

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Human SMN2 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G95598

Source:

293T Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

28.4 kDa

Price:

20 µg/$150

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Human SMN2 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G95599

Source:

293T Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

27 kDa

Price:

20 µg/$150

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Human SMN2 Protein (Recombinant Myc-DDK (Flag)) (Full Length) - LS-G73564

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

28.4 kDa

Price:

20 µg/$1,107

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SMN2 Protein (Over-Expression Lysate Myc-DDK (Flag)) (Full Length) - LS-G110152

Source:

HEK 293 Cells

Tag:

Myc-DDK (Flag)

Molecular Weight:

27 kDa

Price:

100 µg/$494

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