SMN2 (survival of motor neuron 2, centromeric)

2014-11-01  

Identity

HGNC
LOCATION
5q13.2
LOCUSID
ALIAS
BCD541,C-BCD541,GEMIN1,SMNC,TDRD16B

Other Information

Locus ID:

NCBI: 6607
MIM: 601627
HGNC: 11118
Ensembl: ENSG00000205571

Variants:

dbSNP: 6607
ClinVar: 6607
TCGA: ENSG00000205571
COSMIC: SMN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205571ENST00000380741Q16637
ENSG00000205571ENST00000380742Q16637
ENSG00000205571ENST00000380743Q16637
ENSG00000205571ENST00000506734E7EQZ4
ENSG00000205571ENST00000507458U3KPX7
ENSG00000205571ENST00000511812B4DP61
ENSG00000205571ENST00000511873H0YBZ9
ENSG00000205571ENST00000614240Q16637
ENSG00000205571ENST00000626847Q16637
ENSG00000205571ENST00000628696E7EQZ4
ENSG00000205571ENST00000638794A0A1W2PRV5

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Survival motor neuron (SMN) complexKEGGhsa_M00426
Survival motor neuron (SMN) complexKEGGM00426
Gene ExpressionREACTOMER-HSA-74160
Metabolism of non-coding RNAREACTOMER-HSA-194441
snRNP AssemblyREACTOMER-HSA-191859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166182882nusinersenChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
119255642002Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.270
219790522011Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.259
117912082002Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.234
128331582003A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.211
184928002008Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.181
164496462006Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron.158
158523972005Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.106
129154512003Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy.98
126426652003Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.93
187035042008TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing.79

Citation

Dessen P

SMN2 (survival of motor neuron 2, centromeric)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73587/smn2