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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SNTG2
syntrophin gamma 2
Chromosome 2 · 2p25.3
NCBI Gene: 54221Ensembl: ENSG00000172554.13HGNC: HGNC:13741UniProt: Q9NY99
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
neuroligin family protein bindingPDZ domain bindingprotein bindingplasma membranepyogenic granulomacutaneous melanomadiabetes mellitusobesity
✦AI Summary

SNTG2 (syntrophin gamma 2) is an adapter protein that organizes subcellular localization of various proteins, likely linking receptors to the actin cytoskeleton and dystrophin glycoprotein complex 1. The protein contains PDZ domains enabling binding to neuroligin family proteins and participates in syntrophin complex assembly at the plasma membrane, with particular relevance to central nervous system development 1. Mechanistically, SNTG2 directly interacts with neuroligins 3 and 4X/4Y, interactions that are disrupted by autism-related mutations 1. This suggests impaired SNTG2-neuroligin coupling may contribute to autism etiology. SNTG2 is implicated in neurodevelopmental disorders broadly, identified as a candidate gene in large cohorts with developmental delay and communication deficits 23. Disease associations extend beyond neurodevelopment. SNTG2 variants appear in idiopathic generalized epilepsy gene-interaction networks 4 and exhibit altered DNA methylation patterns in tinnitus 5 and osteoporotic vertebral fractures, where SNTG2 overexpression was the most significantly upregulated gene 6. Preliminary evidence suggests SNTG2 methylation may associate with childhood obesity 7. Clinically, SNTG2 copy number variations and mutations represent potential diagnostic markers for neurodevelopmental and neurological disorders, though further validation in larger cohorts is needed to establish predictive significance.

Sources cited
1
SNTG2 is a binding partner of neuroligins 3 and 4X/4Y; autism-related mutations impair these interactions
PMID: 17292328
2
SNTG2 is identified as a gene potentially related to neurodevelopmental disorders in a large cohort analysis
PMID: 38674362
3
SNTG2 CNV variants are identified in autism spectrum disorder patients with possible correlation to ASD
PMID: 29564645
4
SNTG2 appears in gene-gene interaction networks associated with idiopathic generalized epilepsy
PMID: 38460076
5
SNTG2 shows altered DNA methylation patterns associated with tinnitus in young adults
PMID: 39147981
6
SNTG2 is the most significantly upregulated gene associated with osteoporotic vertebral fractures in elderly women
PMID: 32602654
7
SNTG2 methylation at cg09973771 is associated with maternal gestational weight gain and childhood BMI status
PMID: 40108365
Disease Associationsⓘ20
pyogenic granulomaOpen Targets
0.34Weak
cutaneous melanomaOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.33Weak
obesityOpen Targets
0.32Weak
premature birthOpen Targets
0.29Weak
hypertrophic cardiomyopathyOpen Targets
0.28Weak
hypothyroidismOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.24Weak
esophageal ulcerOpen Targets
0.20Weak
spondylolisthesisOpen Targets
0.19Weak
response to xenobiotic stimulusOpen Targets
0.17Weak
poisoningOpen Targets
0.17Weak
response to antibioticOpen Targets
0.17Weak
myopiaOpen Targets
0.11Weak
pathological myopiaOpen Targets
0.11Weak
multinodular goiterOpen Targets
0.03Suggestive
autoimmune thyroid diseaseOpen Targets
0.02Suggestive
benign neoplasmOpen Targets
0.02Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTDShared pathway100%NHLH1Shared pathway100%NHLH2Shared pathway100%NPAS1Shared pathway100%JRKLShared pathway100%ZIC5Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
53%
Heart
43%
Ovary
29%
Bone Marrow
2%
Liver
0%
Gene Interaction Network
Click a node to explore
SNTG2BTDNHLH1NHLH2NPAS1JRKLZIC5
PROTEIN STRUCTURE
Preparing viewer…
PDB7QQL · 2.44 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.02 [0.84–1.26]
RankingsWhere SNTG2 stands among ~20K protein-coding genes
  • #13,527of 20,598
    Most Researched23
  • #13,251of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedSNTG2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.
PMID: 38674362
Genes (Basel) · 2024
1.00
2
The role of ferroptosis-related genes in airway epithelial cells of asthmatic patients based on bioinformatics.
PMID: 36862916
Medicine (Baltimore) · 2023
0.90
3
Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations.
PMID: 17292328
Biochem Biophys Res Commun · 2007
0.80
4
DNA Methylation Patterns Associated with Tinnitus in Young Adults-A Pilot Study.
PMID: 39147981
J Assoc Res Otolaryngol · 2024
0.70
5
Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.
PMID: 38460076
Neurogenetics · 2024
0.60