SMN2 gene homepage

General information
Gene symbol SMN2
Gene name survival of motor neuron 2, centromeric
Chromosome 5
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NG_008728.1
Transcript reference NM_017411.3
Exon/intron information NM_017411.3 exon/intron table
Associated with diseases SMA-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 9
Unique public DNA variants reported 4
Individuals with public variants 5
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated March 23, 2020
Version SMN2:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_017411.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/SMN2
HGNC 11118
Entrez Gene 6607
PubMed articles SMN2
OMIM - Gene 601627
OMIM - Diseases SMA-3 (atrophy, muscular, spinal, type III (SMA-3, juvenile, Wohlfart-Kugelberg-Welander disease))
HGMD SMN2
GeneCards SMN2
GeneTests SMN2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019462 5 transcript variant d NM_017411.3 NP_059107.1 9


Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.