Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6607
MIM: 601627
HGNC: 11118
Ensembl: ENSG00000205571
Variants:
dbSNP: 6607
ClinVar: 6607
TCGA: ENSG00000205571
COSMIC: SMN2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166182882 | nusinersen | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36255739 | 2023 | A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy. | 0 |
| 36973114 | 2023 | Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study. | 5 |
| 37510307 | 2023 | The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers. | 0 |
| 37695206 | 2023 | Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? | 4 |
| 36255739 | 2023 | A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy. | 0 |
| 36973114 | 2023 | Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study. | 5 |
| 37510307 | 2023 | The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers. | 0 |
| 37695206 | 2023 | Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? | 4 |
| 35018432 | 2022 | Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA. | 6 |
| 35088120 | 2022 | Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA. | 1 |
| 35219815 | 2022 | Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA. | 1 |
| 35431259 | 2022 | Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies? | 9 |
| 35456491 | 2022 | High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts. | 1 |
| 35612622 | 2022 | Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing. | 3 |
| 35667685 | 2022 | Effects of Inhibitors of SLC9A-Type Sodium-Proton Exchangers on Survival Motor Neuron 2 (SMN2) mRNA Splicing and Expression. | 0 |
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-(survival-of-motor-neuron-2-centromeric)
