Gene: SMN2
Alternate names for this Gene: BCD541|C-BCD541|GEMIN1|SMNC|TDRD16B
Gene 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 is located in Chromosome: 5
Location in Chromosome : 5q13.2
Description of this Gene: survival of motor neuron 2, centromeric
Type of Gene: protein-coding
rs121909192 in
SMN2 gene and
Juvenile Spinal Muscular Atrophy
PMID 19716110 2009 A positive modifier of spinal muscular atrophy in the SMN2 gene.
PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
PMID 10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
rs75030631 in
SMN2 gene and
Muscular Atrophy, Spinal, Type II
PMID 9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
PMID 10732802 1998 Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.
PMID 9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
PMID 21088113 2011 HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects.
PMID 14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.