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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNTG1
syntrophin gamma 1
Chromosome 8 · 8q11.21
NCBI Gene: 54212Ensembl: ENSG00000147481.17HGNC: HGNC:13740UniProt: A0A2R8Y5T2
40PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ruffle membraneprotein bindingcytoplasmcytoskeletonobstructive sleep apneasmoking initiationAbnormality of the skeletal systempneumoconiosis
✦AI Summary

SNTG1 encodes γ-1 syntrophin, a neuronal-specific adapter protein that is part of the dystrophin-associated protein complex 1. The protein functions as a cytoplasmic peripheral membrane protein that associates directly with dystrophin and likely organizes subcellular localization of various proteins by linking receptors to the actin cytoskeleton 1. SNTG1 expression is restricted to neurons, particularly in brain areas involved in postural control 2. The gene has significant clinical relevance in skeletal disorders, with disruptions associated with idiopathic scoliosis through chr8 rearrangements that break between exons 10 and 11 12. Rare variants near SNTG1 are associated with bone mineral density in Asian populations, with preliminary evidence suggesting these variants upregulate SNTG1 expression and may inhibit preosteoblast proliferation and differentiation 3. Copy number variants in SNTG1 have been identified in congenital scoliosis patients 4. Additionally, SNTG1 shows differential DNA methylation patterns in ischemic myocardium following extracellular vesicle treatment 5 and has been associated with childhood obesity in genomic studies 6, suggesting broader roles in cellular metabolism and development beyond its established neuronal functions.

Sources cited
1
SNTG1 encodes γ-1 syntrophin, a neuronal-specific protein that associates with dystrophin and is disrupted in idiopathic scoliosis
PMID: 15088139
2
SNTG1 expression is restricted to neurons, particularly in brain areas affecting postural control, and disruptions are associated with scoliosis
PMID: 34048959
3
Rare variants near SNTG1 are associated with bone mineral density and may upregulate SNTG1 expression, inhibiting preosteoblast function
PMID: 39738056
4
Copy number variants in SNTG1 have been identified in congenital scoliosis patients
PMID: 34440387
5
SNTG1 shows differential DNA methylation in ischemic myocardium following extracellular vesicle treatment
PMID: 37982029
6
SNTG1 has been associated with childhood obesity in genomic studies
PMID: 40000390
Disease Associationsⓘ20
obstructive sleep apneaOpen Targets
0.45Moderate
smoking initiationOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.37Weak
pneumoconiosisOpen Targets
0.32Weak
skin diseaseOpen Targets
0.31Weak
attention deficit hyperactivity disorderOpen Targets
0.31Weak
substance abuseOpen Targets
0.31Weak
risk-taking behaviourOpen Targets
0.30Weak
Parkinson diseaseOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.29Weak
eye diseaseOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.28Weak
parasitic infectionOpen Targets
0.28Weak
respiratory system diseaseOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.28Weak
hypertensionOpen Targets
0.28Weak
self-injurious ideationOpen Targets
0.27Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CAV3Protein interaction99%SNTG2Protein interaction97%DAG1Protein interaction94%DMDProtein interaction94%PGM5Protein interaction94%SGCAProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Liver
6%
Bone Marrow
2%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
SNTG1CAV3SNTG2DAG1DMDPGM5SGCA
PROTEIN STRUCTURE
Preparing viewer…
PDB7PC7 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.64LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.45 [0.32–0.64]
RankingsWhere SNTG1 stands among ~20K protein-coding genes
  • #10,241of 20,598
    Most Researched40
  • #4,552of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedSNTG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations.
PMID: 39738056
Nat Commun · 2024
1.00
2
Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.
PMID: 34048959
Bone · 2021
0.90
3
Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.
PMID: 34440387
Genes (Basel) · 2021
0.80
4
Extracellular vesicle treatment partially reverts epigenetic alterations in chronically ischemic porcine myocardium.
PMID: 37982029
Vessel Plus · 2023
0.70
5
SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.
PMID: 15088139
Hum Genet · 2004
0.60