SMN2 293T Cell Transient Overexpression Lysate(Denatured)
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More Files
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Specification
Transfected Cell Line
293T
Plasmid
pCMV-SMN2 full-length
Host
Human
Theoretical MW (kDa)
30.5
Quality Control Testing
Transient overexpression cell lysate was tested with Anti-SMN2 antibody (H00006607-B01) by Western Blots.
SDS-PAGE Gel
SMN2 transfected lysate.
Western Blot
Lane 1: SMN2 transfected lysate ( 30.5 KDa)
Lane 2: Non-transfected lysate.Storage Buffer
1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot
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Gene Info — SMN2
Entrez GeneID
6607GeneBank Accession#
NM_022875Protein Accession#
NP_075013.1Gene Name
SMN2
Gene Alias
BCD541, C-BCD541, FLJ76644, MGC20996, MGC5208, SMNC
Gene Description
survival of motor neuron 2, centromeric
Omim ID
601627Gene Ontology
HyperlinkGene 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. [provided by RefSeq
Other Designations
OTTHUMP00000125236|OTTHUMP00000125237|gemin 1
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Interactome
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