Ask about this productRelated genes to: GRIN2B antibody
- Gene:
- GRIN2B NIH gene
- Name:
- glutamate ionotropic receptor NMDA type subunit 2B
- Previous symbol:
- NMDAR2B
- Synonyms:
- GluN2B
- Chromosome:
- 12p13.1
- Locus Type:
- gene with protein product
- Date approved:
- 1992-09-18
- Date modifiied:
- 2016-02-05
Related products to: GRIN2B antibody
Related articles to: GRIN2B antibody
- Autism Spectrum Disorder (ASD) is a genetically heterogeneous neurodevelopmental condition involving multiple genes. This study aimed to comprehensively review the genetic landscape of ASD in the Iranian population, identifying gene variants associated with increased risk, to facilitate improved diagnosis and targeted interventions. A systematic review and meta-analysis were conducted on genetic association studies of ASD in Iran up to August 2025. Comprehensive searches were performed in PubMed, Scopus, Web of Science, and Persian databases using relevant keywords. Quality assessment was performed using the Joanna Briggs Institute critical appraisal tools. Meta-analyses were carried out using Review Manager software, assessing heterogeneity and publication bias. Protein-protein interaction networks were constructed via STRING and analyzed with Cytoscape to identify key hub genes and enriched neurodevelopmental pathways. In this study, genes RORA, MTRR, MTR, Reelin, VDR, VMAT1, ACE I/D, MOCOS, HOTAIR, ANRIL, RIT2, MMP-9, GRM7, FOXP3, and GRIN2B showed significant associations with the occurrence of autism. Findings reinforce associations between multiple gene polymorphisms, especially RORA rs4774388 and MOCOS rs594445, with the risk of ASD. This systematic review and meta-analysis emphasize the multifactorial genetic contributions to ASD in the Iranian population, highlighting key risk loci and neurodevelopmental pathways. The findings underscore the importance of integrating genetic, epigenetic, and environmental factors for understanding ASD etiology and developing population-tailored diagnostic and therapeutic strategies. Future studies employing larger cohorts and multi-omics approaches are warranted to further elucidate the complex genetic architecture of ASD in diverse ethnic groups. - Source: PubMed
Barfeh DelaramShahesmaeilinejad ArmitaEslami Shahrbabaki MahinKaramooz AnahitaShekari FatemehZare Arashlouei Azam - Autism spectrum disorder (ASD) is a neurodevelopmental condition that occurs in early childhood, characterized by a broad range of clinical manifestations and impairments in social communication. It represents one of the most prevalent neurodevelopmental disorders, affecting approximately 1% of the general population. The phenotypic heterogeneity of ASD arises from different genetic causes, including chromosomal abnormalities, copy number variants (CNVs), and single-nucleotide variants (SNVs), which may occur as de novo or inherited events. Moreover, the polygenic and multifactorial nature of ASD, together with epigenetic regulation and environmental influences, contributes substantially to its complex genetic architecture. Molecular diagnosis remains challenging and relies on multiple genomic approaches, such as array comparative genomic hybridization (array-CGH), whole-exome sequencing (WES), and whole-genome sequencing (WGS); however, the diagnostic yields of these methods remain limited, reflecting the complexity of ASD's genetic architecture. Notably, ASD-associated genes converge on key biological pathways, particularly those involved in transcriptional regulation, chromatin remodeling, synaptic function, and neuronal signaling. These include well-established risk genes such as , , , , , , , , and , among others. This review summarizes the current knowledge on the genetic basis of ASD, highlighting key aspects of its complex genetic architecture. By integrating evidence from major clinical and research databases, it provides a clearer understanding of the underlying mechanisms, supporting improved diagnosis and future research and therapeutic strategies. - Source: PubMed
Publication date: 2026/04/04
Treccarichi SimoneVinci MirellaVirgillito MiriamMusumeci AntoninoBruno FrancescaPapa CarlaGalati Rando RosannaMarano PietroGreco DonatellaFallea AntonioBrancato DesireeCalì SiriaGarcia GresheenFederico ConcettaSaccone SalvatoreCalì Francesco - In this issue of Developmental Cell, Lu et al. reveal that Hif-1α plays a non-canonical role in cortical interneuron development and interacts with Grin2b, a gene associated with neurodevelopmental disorders. The study highlights that controlled Hif-1α expression is essential for brain development yet achievable without activating the hypoxia-response pathway. - Source: PubMed
Li LiPasca Anca M - This study aimed to identify and validate corneal biomarkers underlying myopia using human corneal tissues. Gene expression data were analyzed to investigate myopia development, where candidate genes were selected by identifying differentially expressed genes and intersecting them with oxidative stress-related genes. Machine learning techniques were employed to identify key biomarkers, and a nomogram was constructed to predict myopia risk. Utilizing corneal stromal tissues from patients who undergoing Small Incision Lenticule Extraction (SMILE) surgery, the expression levels of ATF3, GRIN2B, and GSTM3 were found to be significantly lower in the high myopia group (≤ -6.00 D) compared to the low myopia group (≥ -3.00 D and < 0 D). These biomarkers were also found to be closely associated with differential immune cell infiltration, particularly involving CD8 + T cells and eosinophils. A diagnostic nomogram was developed and showed strong discriminative potential in the discovery set. However, its predictive performance and clinical utility should be further validated in independent cohorts. ATF3, GRIN2B, and GSTM3 have emerged as promising oxidative stress-related biomarkers with significant potential for understanding myopia pathology. - Source: PubMed
Publication date: 2026/03/30
Zhou QingyiYe MingxiaZhang ZhiyongLuo HongboZhang YonggangZhao Hailan - Neurotoxicity induced by excessive glutamatergic signaling is associated with synaptic dysfunction, calcium imbalance, and oxidative stress, which are key molecular events implicated in several neurodegenerative conditions. Monosodium glutamate (MSG), a common flavor enhancer, may exert neurotoxic effects, particularly on synaptic integrity, though mechanisms remain unclear. Tannic acid (TA), a natural polyphenol, has been proposed as a neuroprotective compound. This study investigated the impact of MSG on synaptic components beyond classical AD markers and assessed the protective potential of TA. Rats were randomly divided into four groups (n = 6 per group) and treated with MSG (2 g/kg) and/or TA (50 mg/kg) by oral gavage for 21 consecutive days. Gene and protein expression levels of the synaptic markers (GRIN2A, GRIN2B, DLG2, SNAP25, SCN2A, and ATP2B2) in the cerebral cortex were analyzed using qPCR and western blot. MSG treatment significantly downregulated SNAP25, GRIN2B, DLG2, and SCN2A at both mRNA and protein levels, indicating synaptic dysfunction. GRIN2A and ATP2B2 showed reduced mRNA expression, but protein levels were inconsistent. MSG+TA group showed no significant difference compared with the control group, while TA alone produced minimal changes, suggesting that its role is primarily protective under toxic stress. These findings suggest that chronic MSG exposure disrupts synaptic molecular architecture, whereas the restorative effect of TA may be attributed to its ability to modulate MSG-induced molecular alterations. The data emphasize synaptic pathways as alternative neurotoxicity targets and highlight TA's potential in mitigating diet-related excitotoxic synaptic alterations. Further functional and pathway-based studies are needed to confirm the underlying mechanisms. - Source: PubMed
Publication date: 2026/03/27
Karagac Medine SibelKoçpinar Enver FehimCeylan Hamid