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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMN1
survival of motor neuron 1, telomeric
Chromosome 5 Β· 5q13.2
NCBI Gene: 6606Ensembl: ENSG00000172062.17HGNC: HGNC:11117UniProt: B4DP61
470PubMed Papers
24Diseases
1Drugs
84Pathogenic Variants
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
neuron projectioncytoplasmic ribonucleoprotein granuleidentical protein bindingspliceosomal complex assemblyProximal spinal muscular atrophy type 3spinal muscular atrophy, type IIIspinal muscular atrophy, type 1spinal muscular atrophy, type II
✦AI Summary

SMN1 encodes the survival motor neuron protein, which is essential for motor neuron maintenance and function 1. The primary function involves catalyzing the assembly of small nuclear ribonucleoproteins (snRNPs), critical components of the spliceosome that enable proper splicing of cellular pre-mRNAs. SMN1 works in conjunction with SMN2, a paralogous gene that produces reduced levels of functional SMN protein due to alternative splicing caused by a single nucleotide difference (C-to-T transition) that promotes exon 7 skipping 2. This splicing defect explains why SMN2 cannot fully compensate for SMN1 loss. SMN1 mutations cause spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disorder characterized by spinal motor neuron degeneration, skeletal muscle atrophy, and generalized weakness 34. Disease severity inversely correlates with SMN2 gene copy number, as SMN2 produces only a fraction of functional SMN protein compared to SMN1 4. SMA affects approximately 1-2 per 100,000 persons with an incidence of 1 in 10,000 live births 5. Clinically, gene therapy using AAV9 vectors to deliver functional SMN1 has shown promise, with onasemnogene abeparvovec approved for SMA treatment, demonstrating improved motor function and survival when administered early 16.

Sources cited
1
SMN1 encodes survival motor neuron protein responsible for motor neuron maintenance and function
PMID: 35960489
2
SMN2 cannot fully compensate for SMN1 due to a C-to-T nucleotide difference causing exon 7 skipping
PMID: 10339583
3
SMN1 mutations cause spinal muscular atrophy with motor neuron degeneration and muscle weakness
PMID: 18572081
4
Disease severity inversely correlates with SMN2 copy number; SMN2 produces fraction of SMN1 transcript
PMID: 26515624
5
SMA prevalence is 1-2 per 100,000 persons with incidence of 1 in 10,000 live births
PMID: 28676062
6
AAV9-based gene therapy shows promise for SMN1 delivery in preclinical studies
PMID: 40522061
Disease Associationsβ“˜24
Proximal spinal muscular atrophy type 3Open Targets
0.81Strong
spinal muscular atrophy, type IIIOpen Targets
0.79Strong
spinal muscular atrophy, type 1Open Targets
0.79Strong
spinal muscular atrophy, type IIOpen Targets
0.77Strong
Proximal spinal muscular atrophy type 2Open Targets
0.75Strong
spinal muscular atrophyOpen Targets
0.73Strong
spinal muscular atrophy, type IVOpen Targets
0.72Strong
Proximal spinal muscular atrophy type 4Open Targets
0.69Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
arthrogryposisOpen Targets
0.37Weak
proximal spinal muscular atrophyOpen Targets
0.28Weak
genetic disorderOpen Targets
0.15Weak
severe malarial anemiaOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
oral squamous cell carcinomaOpen Targets
0.09Suggestive
skin basal cell carcinomaOpen Targets
0.09Suggestive
KeloidOpen Targets
0.08Suggestive
Gorham-Stout diseaseOpen Targets
0.08Suggestive
Alzheimer diseaseOpen Targets
0.08Suggestive
Spinal muscular atrophy 1UniProt
Spinal muscular atrophy 2UniProt
Spinal muscular atrophy 3UniProt
Spinal muscular atrophy 4UniProt
Pathogenic Variants84
NM_000344.4(SMN1):c.*3+1G>ALikely pathogenic
not provided|Spinal muscular atrophy
β˜…β˜…β˜†β˜†2025
NM_000344.4(SMN1):c.796T>C (p.Ser266Pro)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 266
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)Pathogenic
Spinal muscular atrophy, type II|Kugelberg-Welander disease|not provided|Spinal muscular atrophy
β˜…β˜…β˜†β˜†2024β†’ Residue 2
NM_000344.4(SMN1):c.347T>C (p.Ile116Thr)Likely pathogenic
Kugelberg-Welander disease|Werdnig-Hoffmann disease
β˜…β˜…β˜†β˜†2024β†’ Residue 116
NM_000344.4(SMN1):c.597dup (p.Met200fs)Pathogenic
not provided|Werdnig-Hoffmann disease
β˜…β˜…β˜†β˜†2024β†’ Residue 200
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)Pathogenic
Spinal muscular atrophy, type II|Spinal muscular atrophy, type IV|Werdnig-Hoffmann disease|Kugelberg-Welander disease|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 134
NM_000344.4(SMN1):c.835-1G>APathogenic
Spinal muscular atrophy|Kugelberg-Welander disease;Spinal muscular atrophy, type II;Werdnig-Hoffmann disease;Spinal muscular atrophy, type IV
β˜…β˜…β˜†β˜†2024
NM_000344.4(SMN1):c.549del (p.Lys184fs)Pathogenic
Spinal muscular atrophy|not provided|Werdnig-Hoffmann disease
β˜…β˜…β˜†β˜†2023β†’ Residue 184
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)Pathogenic
Kugelberg-Welander disease|not provided|Spinal muscular atrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 95
NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)Pathogenic
Werdnig-Hoffmann disease|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 116
NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)Pathogenic
Werdnig-Hoffmann disease|not provided|Spinal muscular atrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 272
NM_000344.4(SMN1):c.835G>C (p.Gly279Arg)Pathogenic
Spinal muscular atrophy
β˜…β˜…β˜†β˜†2023β†’ Residue 279
NM_000344.4(SMN1):c.469C>T (p.Gln157Ter)Pathogenic
not provided|Werdnig-Hoffmann disease
β˜…β˜…β˜†β˜†2022β†’ Residue 157
NM_000344.4(SMN1):c.510_511del (p.Ser170fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 170
NM_000344.4(SMN1):c.584del (p.Pro195fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 195
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)Pathogenic
Kugelberg-Welander disease|not provided
β˜…β˜…β˜†β˜†2020β†’ Residue 262
NM_000344.4(SMN1):c.770_780dup (p.Gly261fs)Pathogenic
not provided|Werdnig-Hoffmann disease
β˜…β˜…β˜†β˜†2018β†’ Residue 261
NM_000344.4(SMN1):c.835-2A>GPathogenic
Spinal muscular atrophy|Werdnig-Hoffmann disease
β˜…β˜…β˜†β˜†2018
NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2017β†’ Residue 33
NM_000344.4(SMN1):c.*3+1G>CPathogenic
Spinal muscular atrophy
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Drug Targets1
ONASEMNOGENE ABEPARVOVECApproved
Survival motor neuron protein exogenous gene
spinal muscular atrophy
Related Genes
SNRPGProtein interaction100%LSM4Protein interaction100%SNRPD1Protein interaction100%SNRPD2Protein interaction100%SNRPFProtein interaction100%LSM10Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Ovary
97%
Brain
84%
Bone Marrow
76%
Lung
56%
Heart
11%
Gene Interaction Network
Click a node to explore
SMN1SNRPGLSM4SNRPD1SNRPD2SNRPFLSM10
PROTEIN STRUCTURE
Preparing viewer…
PDB7W2P Β· 1.15 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.62Intermediate
Observed/Expected LoF0.00 [0.00–1.12]
RankingsWhere SMN1 stands among ~20K protein-coding genes
  • #572of 20,598
    Most Researched470 Β· top 5%
  • #745of 1,025
    FDA-Approved Drug Targets1
  • #886of 5,498
    Most Pathogenic Variants84 Β· top quartile
  • #11,549of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedSMN1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Spinal Muscular Atrophy.
PMID: 26515624
Neurol Clin Β· 2015
1.00
2
Spinal muscular atrophy.
PMID: 18572081
Lancet Β· 2008
0.90
3
Onasemnogene Abeparvovec: A Review in Spinal Muscular Atrophy.
PMID: 35960489
CNS Drugs Β· 2022
0.80
4
Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.
PMID: 28676062
Orphanet J Rare Dis Β· 2017
0.70
5
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.
PMID: 33415588
Neurogenetics Β· 2021
0.64