{"gene":"SNTG1","run_date":"2026-06-10T07:46:37","timeline":{"discoveries":[{"year":2004,"finding":"SNTG1 encodes gamma-1 syntrophin, a cytoplasmic peripheral membrane protein that associates directly with dystrophin (the Duchenne muscular dystrophy gene product); expression of gamma1-syntrophin is restricted to neuronal cells. A pericentric inversion of chromosome 8 was found to disrupt SNTG1 between exons 10 and 11, and mutational analysis of SNTG1 exons in 152 sporadic idiopathic scoliosis patients identified a 6-bp deletion in exon 10 and intronic splice-site mutations not found in 480 control chromosomes.","method":"FISH mapping of chromosomal breakpoints; BAC genomic sequencing; mutational analysis of SNTG1 exons in patient cohort vs. controls","journal":"Human genetics","confidence":"Medium","confidence_rationale":"Tier 3 / Moderate — chromosomal mapping and mutational screening establish genomic disruption and neuronal expression context, but direct biochemical demonstration of dystrophin binding is cited as prior knowledge rather than performed in this study; single lab, two complementary genomic methods","pmids":["15088139"],"is_preprint":false},{"year":2021,"finding":"SNTG1 encodes γ-1 Syntrophin protein that is part of the dystrophin-associated protein complex (DAPC) and interacts directly with the C-terminal of dystrophin; its expression is restricted to neurons, particularly in brain regions suggested to control postural balance. A de novo interstitial deletion 8q11.21q11.23 disrupting SNTG1 was identified by array-CGH in a patient with cognitive impairment and scoliosis, supporting a role for SNTG1 in neuronal function and postural control.","method":"Array-CGH identification of SNTG1-disrupting deletion; literature-based assignment of protein complex membership and subcellular/tissue expression","journal":"Bone","confidence":"Low","confidence_rationale":"Tier 3 / Weak — array-CGH identifies genomic disruption and restates prior knowledge of DAPC association; no direct biochemical or functional experiment on the SNTG1 protein performed in this paper; single case report","pmids":["34048959"],"is_preprint":false}],"current_model":"SNTG1 encodes gamma-1 syntrophin, a neuron-specific cytoplasmic peripheral membrane protein that associates with the C-terminal domain of dystrophin as part of the dystrophin-associated protein complex, and is expressed in brain regions implicated in postural control; disruption of SNTG1 is genetically associated with idiopathic scoliosis, but direct biochemical reconstitution of its interactions and mechanistic studies of its cellular functions remain limited in the available literature."},"narrative":{"mechanistic_narrative":"SNTG1 encodes gamma-1 syntrophin, a cytoplasmic peripheral membrane protein that associates with the C-terminal domain of dystrophin as part of the dystrophin-associated protein complex, with expression restricted to neuronal cells [PMID:15088139]. Genomic disruption of SNTG1 by a pericentric chromosome 8 inversion, together with a 6-bp exon 10 deletion and intronic splice-site mutations absent from controls, links the gene to idiopathic scoliosis in patients [PMID:15088139]. Beyond this genetic association and the prior-knowledge assignment of dystrophin binding and neuronal expression, no direct biochemical reconstitution or functional dissection of the gamma-1 syntrophin protein has been characterized in the available corpus.","teleology":[{"year":2004,"claim":"Established that SNTG1 disruption is genetically associated with idiopathic scoliosis, anchoring an otherwise neuronally-expressed dystrophin-complex protein to a postural phenotype.","evidence":"FISH breakpoint mapping, BAC genomic sequencing, and mutational screening of SNTG1 exons in 152 scoliosis patients versus 480 control chromosomes","pmids":["15088139"],"confidence":"Medium","gaps":["Direct biochemical demonstration of dystrophin binding by the SNTG1 product was not performed, only cited as prior knowledge","No functional mechanism linking SNTG1 loss to scoliosis was established","Causality of the identified variants was inferred from absence in controls, not from functional assay"]},{"year":2021,"claim":"A second independent genomic case reinforced SNTG1 disruption in a patient with cognitive impairment and scoliosis, supporting a neuronal/postural role.","evidence":"Array-CGH identification of a de novo 8q11.21q11.23 deletion disrupting SNTG1 in a single case report","pmids":["34048959"],"confidence":"Low","gaps":["Single case report with no functional experiment on the SNTG1 protein","DAPC membership and neuronal expression were restated from prior literature, not measured here","Deletion spans a region beyond SNTG1, limiting attribution to this gene alone"]},{"year":null,"claim":"The molecular function of gamma-1 syntrophin within the dystrophin-associated protein complex and the mechanism connecting its loss to scoliosis and neuronal postural control remain undefined.","evidence":"No direct biochemical reconstitution or cellular functional study present in the corpus","pmids":[],"confidence":"Low","gaps":["No reconstituted dystrophin–gamma-1 syntrophin interaction reported","No identified downstream signaling or scaffolding partners beyond dystrophin","No animal model linking SNTG1 loss to a postural/scoliosis phenotype"]}],"mechanism_profile":{"molecular_activity":[],"localization":[{"term_id":"GO:0005886","term_label":"plasma membrane","supporting_discovery_ids":[0]}],"pathway":[],"complexes":["dystrophin-associated protein complex (DAPC)"],"partners":["DMD"],"other_free_text":[]}},"prefetch_data":{"uniprot":{"accession":"Q9NSN8","full_name":"Gamma-1-syntrophin","aliases":["Syntrophin-4","SYN4"],"length_aa":517,"mass_kda":58.0,"function":"Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). May participate in regulating the subcellular location of diacylglycerol kinase-zeta to ensure that diacylglycerol is rapidly inactivated following receptor activation","subcellular_location":"Cytoplasm, cytoskeleton; Nucleus","url":"https://www.uniprot.org/uniprotkb/Q9NSN8/entry"},"depmap":{"release":"DepMap","has_data":true,"is_common_essential":false,"resolved_as":"","url":"https://depmap.org/portal/gene/SNTG1","classification":"Not Classified","n_dependent_lines":1,"n_total_lines":1208,"dependency_fraction":0.0008278145695364238},"opencell":{"profiled":false,"resolved_as":"","ensg_id":"","cell_line_id":"","localizations":[],"interactors":[],"url":"https://opencell.sf.czbiohub.org/search/SNTG1","total_profiled":1310},"omim":[{"mim_id":"608765","title":"SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3; IS3","url":"https://www.omim.org/entry/608765"},{"mim_id":"608715","title":"SYNTROPHIN, GAMMA-2; SNTG2","url":"https://www.omim.org/entry/608715"},{"mim_id":"608714","title":"SYNTROPHIN, GAMMA-1; SNTG1","url":"https://www.omim.org/entry/608714"}],"hpa":{"profiled":true,"resolved_as":"","reliability":"","locations":[],"tissue_specificity":"Tissue enhanced","tissue_distribution":"Detected in some","driving_tissues":[{"tissue":"brain","ntpm":4.7},{"tissue":"lymphoid tissue","ntpm":2.6}],"url":"https://www.proteinatlas.org/search/SNTG1"},"hgnc":{"alias_symbol":["SYN4","G1SYN"],"prev_symbol":[]},"alphafold":{"accession":"Q9NSN8","domains":[{"cath_id":"2.30.29.30","chopping":"13-42_206-252","consensus_level":"high","plddt":92.2738,"start":13,"end":252},{"cath_id":"2.30.42.10","chopping":"45-141","consensus_level":"medium","plddt":86.0154,"start":45,"end":141},{"cath_id":"2.30.29.30","chopping":"278-393","consensus_level":"high","plddt":92.026,"start":278,"end":393},{"cath_id":"2.30.29.30","chopping":"397-474_483-499","consensus_level":"high","plddt":92.194,"start":397,"end":499}],"viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NSN8","model_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NSN8-F1-model_v6.cif","pae_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NSN8-F1-predicted_aligned_error_v6.png","plddt_mean":82.38},"mouse_models":{"mgi_url":"https://www.informatics.jax.org/marker/summary?nomen=SNTG1","jax_strain_url":"https://www.jax.org/strain/search?query=SNTG1"},"sequence":{"accession":"Q9NSN8","fasta_url":"https://rest.uniprot.org/uniprotkb/Q9NSN8.fasta","uniprot_url":"https://www.uniprot.org/uniprotkb/Q9NSN8/entry","alphafold_viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NSN8"}},"corpus_meta":[{"pmid":"18403410","id":"PMC_18403410","title":"Directional migration of neural crest cells in vivo is regulated by Syndecan-4/Rac1 and non-canonical Wnt signaling/RhoA.","date":"2008","source":"Development (Cambridge, England)","url":"https://pubmed.ncbi.nlm.nih.gov/18403410","citation_count":226,"is_preprint":false},{"pmid":"10421575","id":"PMC_10421575","title":"Depletion of syntaxins in the early Caenorhabditis elegans embryo reveals a role for membrane fusion events in cytokinesis.","date":"1999","source":"Current biology : CB","url":"https://pubmed.ncbi.nlm.nih.gov/10421575","citation_count":136,"is_preprint":false},{"pmid":"11375421","id":"PMC_11375421","title":"Syntaxin 4 heterozygous knockout mice develop muscle insulin resistance.","date":"2001","source":"The Journal of clinical investigation","url":"https://pubmed.ncbi.nlm.nih.gov/11375421","citation_count":99,"is_preprint":false},{"pmid":"25216363","id":"PMC_25216363","title":"Dynamic catch of a Thy-1-α5β1+syndecan-4 trimolecular complex.","date":"2014","source":"Nature communications","url":"https://pubmed.ncbi.nlm.nih.gov/25216363","citation_count":87,"is_preprint":false},{"pmid":"21493899","id":"PMC_21493899","title":"Syndecan-4 prevents cardiac rupture and dysfunction after myocardial infarction.","date":"2011","source":"Circulation research","url":"https://pubmed.ncbi.nlm.nih.gov/21493899","citation_count":84,"is_preprint":false},{"pmid":"23132338","id":"PMC_23132338","title":"Syntaxin-3 regulates newcomer insulin granule exocytosis and compound fusion in pancreatic beta cells.","date":"2012","source":"Diabetologia","url":"https://pubmed.ncbi.nlm.nih.gov/23132338","citation_count":67,"is_preprint":false},{"pmid":"15331531","id":"PMC_15331531","title":"Syntaxin 4 transgenic mice exhibit enhanced insulin-mediated glucose uptake in skeletal muscle.","date":"2004","source":"Diabetes","url":"https://pubmed.ncbi.nlm.nih.gov/15331531","citation_count":60,"is_preprint":false},{"pmid":"21151896","id":"PMC_21151896","title":"Genomic aberrations in lung adenocarcinoma in never smokers.","date":"2010","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/21151896","citation_count":58,"is_preprint":false},{"pmid":"15088139","id":"PMC_15088139","title":"SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.","date":"2004","source":"Human genetics","url":"https://pubmed.ncbi.nlm.nih.gov/15088139","citation_count":42,"is_preprint":false},{"pmid":"19144724","id":"PMC_19144724","title":"A role for Syndecan-4 in neural induction involving ERK- and PKC-dependent pathways.","date":"2009","source":"Development (Cambridge, England)","url":"https://pubmed.ncbi.nlm.nih.gov/19144724","citation_count":42,"is_preprint":false},{"pmid":"12882905","id":"PMC_12882905","title":"Insulin resistance in tetracycline-repressible Munc18c transgenic mice.","date":"2003","source":"Diabetes","url":"https://pubmed.ncbi.nlm.nih.gov/12882905","citation_count":39,"is_preprint":false},{"pmid":"17451559","id":"PMC_17451559","title":"Alcohol redirects CCK-mediated apical exocytosis to the acinar basolateral membrane in alcoholic pancreatitis.","date":"2007","source":"Traffic (Copenhagen, Denmark)","url":"https://pubmed.ncbi.nlm.nih.gov/17451559","citation_count":39,"is_preprint":false},{"pmid":"22108804","id":"PMC_22108804","title":"Gelsolin associates with the N terminus of syntaxin 4 to regulate insulin granule exocytosis.","date":"2011","source":"Molecular endocrinology (Baltimore, Md.)","url":"https://pubmed.ncbi.nlm.nih.gov/22108804","citation_count":36,"is_preprint":false},{"pmid":"27031623","id":"PMC_27031623","title":"QTL Mapping of Low-Temperature Germination Ability in the Maize IBM Syn4 RIL Population.","date":"2016","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/27031623","citation_count":35,"is_preprint":false},{"pmid":"10629564","id":"PMC_10629564","title":"Expression pattern alterations of syndecans and glypican-1 in normal and pathological trophoblast.","date":"1999","source":"The Journal of pathology","url":"https://pubmed.ncbi.nlm.nih.gov/10629564","citation_count":35,"is_preprint":false},{"pmid":"25762204","id":"PMC_25762204","title":"Syntaxin-4 mediates exocytosis of pre-docked and newcomer insulin granules underlying biphasic glucose-stimulated insulin secretion in human pancreatic beta cells.","date":"2015","source":"Diabetologia","url":"https://pubmed.ncbi.nlm.nih.gov/25762204","citation_count":35,"is_preprint":false},{"pmid":"28062282","id":"PMC_28062282","title":"Coupling of vinculin to F-actin demands Syndecan-4 proteoglycan.","date":"2017","source":"Matrix biology : journal of the International Society for Matrix Biology","url":"https://pubmed.ncbi.nlm.nih.gov/28062282","citation_count":34,"is_preprint":false},{"pmid":"12209563","id":"PMC_12209563","title":"Localization of the transmembrane proteoglycan syndecan-4 and its regulatory kinases in costameres of rat cardiomyocytes: a deconvolution microscopic study.","date":"2002","source":"The Anatomical record","url":"https://pubmed.ncbi.nlm.nih.gov/12209563","citation_count":30,"is_preprint":false},{"pmid":"21330609","id":"PMC_21330609","title":"Syndecan-4 deficiency limits neointimal formation after vascular injury by regulating vascular smooth muscle cell proliferation and vascular progenitor cell mobilization.","date":"2011","source":"Arteriosclerosis, thrombosis, and vascular biology","url":"https://pubmed.ncbi.nlm.nih.gov/21330609","citation_count":28,"is_preprint":false},{"pmid":"27143125","id":"PMC_27143125","title":"Syndecan-4 modulates the proliferation of neural cells and the formation of CaP axons during zebrafish embryonic neurogenesis.","date":"2016","source":"Scientific reports","url":"https://pubmed.ncbi.nlm.nih.gov/27143125","citation_count":25,"is_preprint":false},{"pmid":"15001228","id":"PMC_15001228","title":"Role of Syndecan-4 in the cellular invasion of Orientia tsutsugamushi.","date":"2004","source":"Microbial pathogenesis","url":"https://pubmed.ncbi.nlm.nih.gov/15001228","citation_count":24,"is_preprint":false},{"pmid":"23252429","id":"PMC_23252429","title":"Polyphenols differentially inhibit degranulation of distinct subsets of vesicles in mast cells by specific interaction with granule-type-dependent SNARE complexes.","date":"2013","source":"The Biochemical journal","url":"https://pubmed.ncbi.nlm.nih.gov/23252429","citation_count":24,"is_preprint":false},{"pmid":"21314952","id":"PMC_21314952","title":"Bioinformatic analyses identifies novel protein-coding pharmacogenomic markers associated with paclitaxel sensitivity in NCI60 cancer cell lines.","date":"2011","source":"BMC medical genomics","url":"https://pubmed.ncbi.nlm.nih.gov/21314952","citation_count":23,"is_preprint":false},{"pmid":"27439403","id":"PMC_27439403","title":"Measurement of lipocalin-2 and syndecan-4 levels to differentiate bacterial from viral infection in children with community-acquired pneumonia.","date":"2016","source":"BMC pulmonary medicine","url":"https://pubmed.ncbi.nlm.nih.gov/27439403","citation_count":22,"is_preprint":false},{"pmid":"34242344","id":"PMC_34242344","title":"QTL mapping of seedling tolerance to exposure to low temperature in the maize IBM RIL population.","date":"2021","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/34242344","citation_count":22,"is_preprint":false},{"pmid":"26331606","id":"PMC_26331606","title":"Syntaxin 4 Overexpression Ameliorates Effects of Aging and High-Fat Diet on Glucose Control and Extends Lifespan.","date":"2015","source":"Cell metabolism","url":"https://pubmed.ncbi.nlm.nih.gov/26331606","citation_count":22,"is_preprint":false},{"pmid":"20838928","id":"PMC_20838928","title":"Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).","date":"2010","source":"Journal of molecular neuroscience : MN","url":"https://pubmed.ncbi.nlm.nih.gov/20838928","citation_count":22,"is_preprint":false},{"pmid":"34992631","id":"PMC_34992631","title":"Genetic Contributors of Incident Stroke in 10,700 African Americans With Hypertension: A Meta-Analysis From the Genetics of Hypertension Associated Treatments and Reasons for Geographic and Racial Differences in Stroke Studies.","date":"2021","source":"Frontiers in genetics","url":"https://pubmed.ncbi.nlm.nih.gov/34992631","citation_count":16,"is_preprint":false},{"pmid":"34364112","id":"PMC_34364112","title":"Mutational landscape of primary pulmonary salivary gland-type tumors through targeted next-generation sequencing.","date":"2021","source":"Lung cancer (Amsterdam, Netherlands)","url":"https://pubmed.ncbi.nlm.nih.gov/34364112","citation_count":15,"is_preprint":false},{"pmid":"35610344","id":"PMC_35610344","title":"No association between intravenous fluid volume and endothelial glycocalyx shedding in patients undergoing resuscitation for sepsis in the emergency department.","date":"2022","source":"Scientific reports","url":"https://pubmed.ncbi.nlm.nih.gov/35610344","citation_count":14,"is_preprint":false},{"pmid":"32534097","id":"PMC_32534097","title":"Expression of circular RNAs in the vascular dementia rats.","date":"2020","source":"Neuroscience letters","url":"https://pubmed.ncbi.nlm.nih.gov/32534097","citation_count":13,"is_preprint":false},{"pmid":"39738056","id":"PMC_39738056","title":"SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations.","date":"2024","source":"Nature communications","url":"https://pubmed.ncbi.nlm.nih.gov/39738056","citation_count":13,"is_preprint":false},{"pmid":"33527022","id":"PMC_33527022","title":"Identification of key miRNA-gene pairs in gastric cancer through integrated analysis of mRNA and miRNA microarray.","date":"2021","source":"American journal of translational research","url":"https://pubmed.ncbi.nlm.nih.gov/33527022","citation_count":12,"is_preprint":false},{"pmid":"34440387","id":"PMC_34440387","title":"Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.","date":"2021","source":"Genes","url":"https://pubmed.ncbi.nlm.nih.gov/34440387","citation_count":11,"is_preprint":false},{"pmid":"38537933","id":"PMC_38537933","title":"Serum Fusion Transcripts to Assess the Risk of Hepatocellular Carcinoma and the Impact of Cancer Treatment through Machine Learning.","date":"2024","source":"The American journal of pathology","url":"https://pubmed.ncbi.nlm.nih.gov/38537933","citation_count":10,"is_preprint":false},{"pmid":"37062769","id":"PMC_37062769","title":"Effect of intravenous fluid volume on biomarkers of endothelial glycocalyx shedding and inflammation during initial resuscitation of sepsis.","date":"2023","source":"Intensive care medicine experimental","url":"https://pubmed.ncbi.nlm.nih.gov/37062769","citation_count":9,"is_preprint":false},{"pmid":"30112632","id":"PMC_30112632","title":"Targeting Neuroplasticity, Cardiovascular, and Cognitive-Associated Genomic Variants in Familial Alzheimer's Disease.","date":"2018","source":"Molecular neurobiology","url":"https://pubmed.ncbi.nlm.nih.gov/30112632","citation_count":8,"is_preprint":false},{"pmid":"35987623","id":"PMC_35987623","title":"Abnormal TNS3 gene methylation in patients with congenital scoliosis.","date":"2022","source":"BMC musculoskeletal disorders","url":"https://pubmed.ncbi.nlm.nih.gov/35987623","citation_count":7,"is_preprint":false},{"pmid":"26100207","id":"PMC_26100207","title":"Crystal structure of syndesmos and its interaction with Syndecan-4 proteoglycan.","date":"2015","source":"Biochemical and biophysical research communications","url":"https://pubmed.ncbi.nlm.nih.gov/26100207","citation_count":6,"is_preprint":false},{"pmid":"37982029","id":"PMC_37982029","title":"Extracellular vesicle treatment partially reverts epigenetic alterations in chronically ischemic porcine myocardium.","date":"2023","source":"Vessel plus","url":"https://pubmed.ncbi.nlm.nih.gov/37982029","citation_count":5,"is_preprint":false},{"pmid":"29290962","id":"PMC_29290962","title":"Pharmacogenetics of response to neoadjuvant paclitaxel treatment for locally advanced breast cancer.","date":"2017","source":"Oncotarget","url":"https://pubmed.ncbi.nlm.nih.gov/29290962","citation_count":5,"is_preprint":false},{"pmid":"32915819","id":"PMC_32915819","title":"Investigation of gene-gene interactions in cardiac traits and serum fatty acid levels in the LURIC Health Study.","date":"2020","source":"PloS one","url":"https://pubmed.ncbi.nlm.nih.gov/32915819","citation_count":4,"is_preprint":false},{"pmid":"38591778","id":"PMC_38591778","title":"Effects of syndecan-4 silencing on the extracellular matrix remodeling in anoikis-resistant endothelial cells.","date":"2024","source":"Cell biology international","url":"https://pubmed.ncbi.nlm.nih.gov/38591778","citation_count":4,"is_preprint":false},{"pmid":"21391118","id":"PMC_21391118","title":"Synthesis of syn-4,6-dimethyldodecanal, the male sex pheromone and trail-following pheromone of two species of the termite Zootermopsis.","date":"2011","source":"Natural product research","url":"https://pubmed.ncbi.nlm.nih.gov/21391118","citation_count":3,"is_preprint":false},{"pmid":"34048959","id":"PMC_34048959","title":"Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.","date":"2021","source":"Bone","url":"https://pubmed.ncbi.nlm.nih.gov/34048959","citation_count":3,"is_preprint":false},{"pmid":"37406763","id":"PMC_37406763","title":"Towards universal synthetic heterotrophy using a metabolic coordinator.","date":"2023","source":"Metabolic engineering","url":"https://pubmed.ncbi.nlm.nih.gov/37406763","citation_count":3,"is_preprint":false},{"pmid":"40000390","id":"PMC_40000390","title":"Mapping the landscape of childhood obesity: genomic insights and socioeconomic status in Indian school-going children.","date":"2025","source":"Obesity (Silver Spring, Md.)","url":"https://pubmed.ncbi.nlm.nih.gov/40000390","citation_count":3,"is_preprint":false},{"pmid":"36079661","id":"PMC_36079661","title":"Location and Identification on Chromosome 3B of Bread Wheat of Genes Affecting Chiasma Number.","date":"2022","source":"Plants (Basel, Switzerland)","url":"https://pubmed.ncbi.nlm.nih.gov/36079661","citation_count":2,"is_preprint":false},{"pmid":"23201414","id":"PMC_23201414","title":"Cellular localization of mitotic RAD21 with repetitive amino acid motifs in Allium cepa.","date":"2012","source":"Gene","url":"https://pubmed.ncbi.nlm.nih.gov/23201414","citation_count":2,"is_preprint":false},{"pmid":"40057047","id":"PMC_40057047","title":"Maize SERRATE 1B positively regulates seed germinability under low-temperature.","date":"2025","source":"Plant science : an international journal of experimental plant biology","url":"https://pubmed.ncbi.nlm.nih.gov/40057047","citation_count":1,"is_preprint":false},{"pmid":"39380384","id":"PMC_39380384","title":"Enhancement of the flavor and functional characteristics of cod protein isolate using an enzyme-microbe system.","date":"2024","source":"Food & function","url":"https://pubmed.ncbi.nlm.nih.gov/39380384","citation_count":0,"is_preprint":false},{"pmid":"41389483","id":"PMC_41389483","title":"Synergistic glyphosate degradation in a rice-duckweed-microbe system: Mechanistic insights and sustainable remediation potential.","date":"2025","source":"Journal of hazardous materials","url":"https://pubmed.ncbi.nlm.nih.gov/41389483","citation_count":0,"is_preprint":false}],"cost":{"stage1":{"model":"claude-sonnet-4-6","input_tokens":29575,"output_tokens":1305,"usd":0.05415,"stage1_stop_reason":"end_turn"},"stage2":{"model":"claude-opus-4-8","input_tokens":7165,"output_tokens":1223,"usd":0.0332,"stage2_stop_reason":"end_turn"},"total_usd":0.08735,"stage1_batch_id":"msgbatch_013LWZZT6MWaqB9qyTSeQBmU","stage2_batch_id":"msgbatch_0194ZzQaTGNpruoNJBbEMbt3","note":"batch pricing = 50% of standard"},"stage1_raw":"Looking at the corpus, I need to identify which papers are about SNTG1 (gamma1-syntrophin, also known as G1SYN) versus other genes that share abbreviations like \"Syn4\" (which is used for Syndecan-4, Syntaxin-4, and other genes/organisms).\n\n**Classification:**\n- SNTG1 / gamma1-syntrophin / G1SYN: Papers [9], [45], [34], [27], [38] — these explicitly mention SNTG1 as a gene encoding gamma-1 syntrophin\n- Papers about Syndecan-4 (SDC4): [1], [4], [5], [10], [15], [17], [18], [19], [20], [21], [39], [43] — different gene\n- Papers about Syntaxin-4 (STX4): [2], [3], [6], [7], [11], [12], [13], [16], [22], [26] — different gene\n- Papers about maize IBM Syn4 population, plant SYN4 (cohesin), food processing Syn4, termite pheromone, etc.: [14], [25], [46], [48], [49], [50], [51], [52], [44] — symbol collisions\n- Biomarker/GWAS/expression papers mentioning SNTG1: [8], [23], [28], [29], [32], [33], [35], [37], [41], [42], [47] — no mechanistic experiments on SNTG1 protein\n- Clinical/sepsis papers: [24], [30], [36] — about Syndecan-4, not SNTG1\n- circRNA paper [31] — non-protein product\n- Epigenetics papers [40] — no mechanistic experiment on SNTG1 protein\n\nFor SNTG1 specifically, mechanistic findings are sparse. Paper [9] identifies chromosomal breakpoint within SNTG1 and states gamma1-syntrophin is a neuronal protein associating with dystrophin. Paper [45] states SNTG1 encodes γ-1 Syntrophin which is part of the dystrophin-associated protein complex and interacts with the C-terminal of dystrophin, with expression restricted to neurons.\n\n```json\n{\n  \"discoveries\": [\n    {\n      \"year\": 2004,\n      \"finding\": \"SNTG1 encodes gamma-1 syntrophin, a cytoplasmic peripheral membrane protein that associates directly with dystrophin (the Duchenne muscular dystrophy gene product); expression of gamma1-syntrophin is restricted to neuronal cells. A pericentric inversion of chromosome 8 was found to disrupt SNTG1 between exons 10 and 11, and mutational analysis of SNTG1 exons in 152 sporadic idiopathic scoliosis patients identified a 6-bp deletion in exon 10 and intronic splice-site mutations not found in 480 control chromosomes.\",\n      \"method\": \"FISH mapping of chromosomal breakpoints; BAC genomic sequencing; mutational analysis of SNTG1 exons in patient cohort vs. controls\",\n      \"journal\": \"Human genetics\",\n      \"confidence\": \"Medium\",\n      \"confidence_rationale\": \"Tier 3 / Moderate — chromosomal mapping and mutational screening establish genomic disruption and neuronal expression context, but direct biochemical demonstration of dystrophin binding is cited as prior knowledge rather than performed in this study; single lab, two complementary genomic methods\",\n      \"pmids\": [\"15088139\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2021,\n      \"finding\": \"SNTG1 encodes γ-1 Syntrophin protein that is part of the dystrophin-associated protein complex (DAPC) and interacts directly with the C-terminal of dystrophin; its expression is restricted to neurons, particularly in brain regions suggested to control postural balance. A de novo interstitial deletion 8q11.21q11.23 disrupting SNTG1 was identified by array-CGH in a patient with cognitive impairment and scoliosis, supporting a role for SNTG1 in neuronal function and postural control.\",\n      \"method\": \"Array-CGH identification of SNTG1-disrupting deletion; literature-based assignment of protein complex membership and subcellular/tissue expression\",\n      \"journal\": \"Bone\",\n      \"confidence\": \"Low\",\n      \"confidence_rationale\": \"Tier 3 / Weak — array-CGH identifies genomic disruption and restates prior knowledge of DAPC association; no direct biochemical or functional experiment on the SNTG1 protein performed in this paper; single case report\",\n      \"pmids\": [\"34048959\"],\n      \"is_preprint\": false\n    }\n  ],\n  \"current_model\": \"SNTG1 encodes gamma-1 syntrophin, a neuron-specific cytoplasmic peripheral membrane protein that associates with the C-terminal domain of dystrophin as part of the dystrophin-associated protein complex, and is expressed in brain regions implicated in postural control; disruption of SNTG1 is genetically associated with idiopathic scoliosis, but direct biochemical reconstitution of its interactions and mechanistic studies of its cellular functions remain limited in the available literature.\"\n}\n```","stage2_raw":"{\n  \"mechanistic_narrative\": \"SNTG1 encodes gamma-1 syntrophin, a cytoplasmic peripheral membrane protein that associates with the C-terminal domain of dystrophin as part of the dystrophin-associated protein complex, with expression restricted to neuronal cells [#0]. Genomic disruption of SNTG1 by a pericentric chromosome 8 inversion, together with a 6-bp exon 10 deletion and intronic splice-site mutations absent from controls, links the gene to idiopathic scoliosis in patients [#0]. Beyond this genetic association and the prior-knowledge assignment of dystrophin binding and neuronal expression, no direct biochemical reconstitution or functional dissection of the gamma-1 syntrophin protein has been characterized in the available corpus.\",\n  \"teleology\": [\n    {\n      \"year\": 2004,\n      \"claim\": \"Established that SNTG1 disruption is genetically associated with idiopathic scoliosis, anchoring an otherwise neuronally-expressed dystrophin-complex protein to a postural phenotype.\",\n      \"evidence\": \"FISH breakpoint mapping, BAC genomic sequencing, and mutational screening of SNTG1 exons in 152 scoliosis patients versus 480 control chromosomes\",\n      \"pmids\": [\"15088139\"],\n      \"confidence\": \"Medium\",\n      \"gaps\": [\n        \"Direct biochemical demonstration of dystrophin binding by the SNTG1 product was not performed, only cited as prior knowledge\",\n        \"No functional mechanism linking SNTG1 loss to scoliosis was established\",\n        \"Causality of the identified variants was inferred from absence in controls, not from functional assay\"\n      ]\n    },\n    {\n      \"year\": 2021,\n      \"claim\": \"A second independent genomic case reinforced SNTG1 disruption in a patient with cognitive impairment and scoliosis, supporting a neuronal/postural role.\",\n      \"evidence\": \"Array-CGH identification of a de novo 8q11.21q11.23 deletion disrupting SNTG1 in a single case report\",\n      \"pmids\": [\"34048959\"],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"Single case report with no functional experiment on the SNTG1 protein\",\n        \"DAPC membership and neuronal expression were restated from prior literature, not measured here\",\n        \"Deletion spans a region beyond SNTG1, limiting attribution to this gene alone\"\n      ]\n    },\n    {\n      \"year\": null,\n      \"claim\": \"The molecular function of gamma-1 syntrophin within the dystrophin-associated protein complex and the mechanism connecting its loss to scoliosis and neuronal postural control remain undefined.\",\n      \"evidence\": \"No direct biochemical reconstitution or cellular functional study present in the corpus\",\n      \"pmids\": [],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"No reconstituted dystrophin\\u2013gamma-1 syntrophin interaction reported\",\n        \"No identified downstream signaling or scaffolding partners beyond dystrophin\",\n        \"No animal model linking SNTG1 loss to a postural/scoliosis phenotype\"\n      ]\n    }\n  ],\n  \"mechanism_profile\": {\n    \"molecular_activity\": [],\n    \"localization\": [\n      {\"term_id\": \"GO:0005886\", \"supporting_discovery_ids\": [0]}\n    ],\n    \"pathway\": [],\n    \"complexes\": [\"dystrophin-associated protein complex (DAPC)\"],\n    \"partners\": [\"DMD\"],\n    \"other_free_text\": []\n  }\n}","audit_flag":null,"evaluation":{"pairwise":"win","faith_supported":2,"faith_total":2,"faith_pct":100.0}}