Identity
HGNC
LOCATION
5q13.2
LOCUSID
ALIAS
BCD541,GEMIN1,SMA,SMA1,SMA2,SMA3,SMA4,SMA@,SMN,SMNT,T-BCD541,TDRD16A
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: 6606
MIM: 600354
HGNC: 11117
Ensembl: ENSG00000172062
Variants:
dbSNP: 6606
ClinVar: 6606
TCGA: ENSG00000172062
COSMIC: SMN1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38520993 | 2024 | Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature. | 0 |
| 38520993 | 2024 | Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature. | 0 |
| 36375840 | 2023 | SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members. | 4 |
| 36604149 | 2023 | SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis. | 7 |
| 36675308 | 2023 | The RNA-Binding Protein SMN as a Novel Player in Laryngeal Squamous Cell Carcinoma. | 4 |
| 36769246 | 2023 | SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy. | 0 |
| 36973114 | 2023 | Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study. | 5 |
| 37038823 | 2023 | Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen. | 3 |
| 37369805 | 2023 | SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration. | 2 |
| 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 |
| 37750622 | 2023 | Deletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population. | 1 |
| 37878291 | 2023 | SMN haploinsufficiency promotes ischemia/ reperfusion-induced AKI-to-CKD transition by endoplasmic reticulum stress activation. | 0 |
| 37906147 | 2023 | [Analysis of a Chinese pedigree affected with Spinal muscular atrophy due to compound heterozygous variants of SMN gene]. | 0 |
| 37957344 | 2023 | SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy. | 2 |
| 36375840 | 2023 | SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members. | 4 |
Citation
Dessen P
SMN1 (survival of motor neuron 1, telomeric)
Atlas Genet Cytogenet Oncol Haematol. 2014-10-01
Online version: http://atlasgeneticsoncology.org/gene/54929/teaching-explorer/meetings/
