The 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, NM_022875.2, NM_022876.2, NM_022877.2
Associated with diseases SMA-3
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants -
Date created November 30, -0001

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:11118
Entrez Gene 6607
PubMed articles SMN2
OMIM - Gene 601627
OMIM - Diseases SMA-3 (atrophy, muscular, spinal, type III (juvenile, Wohlfart-Kugelberg-Welander disease))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00030600 5 transcript variant d NM_017411.3 NP_059107.1 -
00030601 5 transcript variant a NM_022875.2 NP_075013.1 -
00030602 5 transcript variant b NM_022876.2 NP_075014.1 -
00030603 5 transcript variant c NM_022877.2 NP_075015.1 -