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FLASH GENE

Symbol

SMN2

contributors: shn/pgu - updated : 31-08-2016

HGNC name	survival of motor neuron 2, centromeric
HGNC id	11118

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AMCSMA1 , SMA , SMA2 , SMA3 , SMA4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in one case with spinal muscular atrophy, without any detectable lesion of SMN1 constitutional   deletion     homozygously deleted in sporadic SLA with shorter time of survival

Susceptibility

to spinal muscular amyotrophy splicing defect in SMN2 causes SMN deficiency because it fortuitously creates a degron resulting in major perturbations in RNA metabolism

Variant & Polymorphism

Candidate gene	an increased number of SMN2 copies in healthy carriers of the biallelic SMN1 deletion is an important SMA phenotype modifier, but probably not the only one
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular spinal muscular atrophy   in SMN-deficient mice expression of an increasing copy number of SMN2 cDNA transgenes proportionately lessens SMA severity neuromuscular spinal muscular atrophy   inhibition of SMN2 gene silencing conferred by DNA methylation might represent a promising strategy for pharmacologic SMA therapy neuromuscular spinal muscular atrophy   potential therapeutic benefit in increasing the SMN2 gene expression in order to decrease the severity of the SMA neuromuscular spinal muscular atrophy   use of single-stranded oligonucleotides to direct genetic conversion of SMN2 to SMN1 in human cells from SMA patients neuromuscular spinal muscular atrophy   inhibition of KHDRBS1 activity, through competition with dominant-negative mutants, provides a valuable approach for the rescue of SMN activity

ANIMAL & CELL MODELS