Ask about this productRelated genes to: NR2F1 Blocking Peptide
- Gene:
- NR2F1 NIH gene
- Name:
- nuclear receptor subfamily 2 group F member 1
- Previous symbol:
- ERBAL3, TFCOUP1
- Synonyms:
- EAR-3, COUP-TFI, TCFCOUP1, SVP44, COUPTF1
- Chromosome:
- 5q15
- Locus Type:
- gene with protein product
- Date approved:
- 1995-03-21
- Date modifiied:
- 2018-02-14
Related products to: NR2F1 Blocking Peptide
Related articles to: NR2F1 Blocking Peptide
- Prenatal exposure to valproic acid (VPA), a widely prescribed antiepileptic and mood‑stabilizing drug, is a well-established environmental risk factor for autism spectrum disorder (ASD). Although behavioral and anatomical abnormalities have been reported in VPA-exposed animal models, the underlying molecular mechanisms within specific brain regions remain unclear. In this study, we used tandem mass tag (TMT)-based quantitative proteomics to profile protein expression in the striatum of 9-10-week-old mice prenatally exposed to VPA. Behavioral assessment confirmed core ASD-like phenotypes, including reduced body and brain weights and increased repetitive self-grooming behavior. Proteomic profiling identified 101 differentially expressed proteins (DEPs), with 47 upregulated and 54 downregulated in VPA-exposed mice. Functional enrichment analysis revealed significant involvement of pathways related to synaptic transmission, neuronal development, metal ion homeostasis, oxidative stress response, and excitation/inhibition (E/I) balance. Notably, proteins such as parvalbumin (PVALB), NR2F1, and metallothioneins (MT1, MT2, MT3) were markedly downregulated, implicating impaired inhibitory signaling and redox regulation. Importantly, quantitative PVALB immunofluorescence analysis provided histological validation of the proteomic findings, revealing a significant reduction of PVALB immunoreactivity in the dorsolateral striatum, with a non-significant trend toward reduction in the dorsomedial striatum. Additionally, protein-protein interaction network analysis identified PVALB and MT2 as central hub proteins linking synaptic, glial, and oxidative stress-related modules, highlighting disrupted striatal network organization. Collectively, these findings provide subregion-specific molecular and histological insight into how prenatal VPA exposure alters striatal neurobiology and contributes to ASD-like behavioral phenotypes. Proteomic data are available via ProteomeXchange (PXD067574). - Source: PubMed
Publication date: 2026/05/27
Jo Eun HwaChoi YunjungKim Han-ByeolWoo Ran-SookHan DohyunKim Won-CheolPark Seong JuneKang MinaChoi YooriKang Keon WookKim Hye-Sun - Large interstitial deletions spanning chromosome 5q14.3 to q21.1 and encompassing are rare. Existing descriptions have largely focused on structural features and presenting manifestations, with fewer reports examining functional neurodevelopmental outcomes over time, particularly in individuals with large interstitial deletions. Here, we present a 16-year longitudinal analysis of an individual with a 13.58 Mb interstitial deletion of 5q14.3 to q21.1 encompassing (ClinVar accession SCV007328941), consistent with NR2F1-related neurodevelopmental disorder, historically described under OMIM:615722 (Bosch-Boonstra-Schaaf optic atrophy syndrome). We integrate longitudinal clinical, visual, neurological, and developmental data to examine relationships between optic nerve findings, periventricular heterotopia (PH; OMIM:612881, chromosome 5q14.3 deletion syndrome), cerebral visual impairment (CVI), epilepsy, hypotonia, and long-term functional outcomes. The index case manifested PH and severe CVI from infancy, with profound hypotonia associated oromotor and airway dysfunction. Epilepsy first manifested during adolescence. Longitudinal in-depth analysis suggests that CVI may represent a key mediating factor underlying cognitive, behavioral, and communicative difficulties. Substantial latent cognitive capacity was revealed once visual complexity was reduced and environments appropriately adapted. Analysis of published cases indicates that PH is an uncommon but recurrent feature of haploinsufficiency and suggests that optic atrophy can be secondary to cerebral visual pathway dysfunction. This case highlights that longitudinal functional assessment can enhance genotype-phenotype interpretation in rare genomic disorders and provide clinically actionable insights for diagnosis, management, and outcome prediction. - Source: PubMed
Publication date: 2026/05/07
St Clair Tracy HelenDutton Gordon NHall Hildegard NikkiBlaikie Andrew - Although traditional genome-wide association studies (GWAS) have identified numerous loci, they often ignore phased haplotype information. Identity-by-descent (IBD) mapping captures these extended haplotypic effects by modeling shared ancestral segments. However, standard statistical mapping of these segments scales poorly with biobank-sized cohorts and short IBD segments that capture older evolutionary events. To overcome this computational bottleneck, existing scalable IBD mapping frameworks aggregate shared segments into fixed sliding windows. While computationally efficient, this window-based approach generates association signals at a low resolution that often span hundreds of kilobases. To address this issue, here we present a novel High-resolution Fast IBD Mapping test (HiFiMAP) that takes snapshots of IBD segments at the single nucleotide polymorphism (SNP) level resolution. Simulation studies confirm that HiFiMAP maintains well-controlled type I error rates and exhibits superior statistical power for detecting rare variants and haplotype effects using short IBD segments. In a UK Biobank (UKB) benchmark (N=407,681), HiFiMAP mapped 640,899 SNPs at 1.92 CPU seconds per test, massively outperforming existing window-based methods (95.2 CPU seconds per test for 3,403 windows). Furthermore, applied to high-dimensional brain imaging phenotypes (N~36,000), HiFiMAP identified five novel associations previously undetected by standard GWAS approaches, including key central nervous system regulators like and . By refining large testing windows into highly specific genomic variants, HiFiMAP empowers biobank-scale, SNP-level resolution mapping to accurately pinpoint complex trait architectures. - Source: PubMed
Publication date: 2026/05/17
Guo BohongNaseri ArdalanXie ZiqianSarnowski ChloéZhi DeguiChen Han - With the rapid development of cancer treatment, immunotherapy has revolutionized renal cell carcinoma (RCC) treatment, yet patient responses remain heterogeneous. Here, a computational pipeline was constructed by integrating single-cell and bulk RNA sequencing data to identify immune-related candidate driver genes and characterize their impact on RCC immunotherapy. Based on gene regulatory networks (GRN), 25 immune-related candidate driver genes were identified, leading to the stratification of patients into three clusters (C1-C3). Compared to the C2/C3 cluster, the C1 cluster exhibited elevated immune infiltration, tumor mutation burden and checkpoint expression, which may represent immunotherapy responders. Dynamic analysis of GRNs revealed the critical role of candidate driver genes in predicting the efficacy of immunotherapy. , and in lymphoid cells of C1 participated in anti-tumor immune response by impacting target genes , , and . , , , and were up-regulated in clusters C2 and C3, leading to tumor progression and immune evasion by influencing target genes , and . In conclusion, integration of the transcriptome with molecular networks provided a network-based framework to uncover immune-related candidate driver genes for stratifying RCC patients, thereby serving as potential therapeutic targets to improve the outcome of RCC immunotherapy. - Source: PubMed
Publication date: 2026/04/13
Yin XiangzheWang LuSun YanwuLi ShiyiYu WentongWang SiyaoGeng ZhichaoZhao HongyingWang Li - This case demonstrates the value of cell-free DNA (cfDNA) screening for detecting subchromosomal microdeletions in fetuses with non-specific prenatal screening abnormalities and no overt structural malformations on ultrasound; CMA and karyotyping confirmation and integrated genetic counseling are essential for diagnosing 5q14.3q15 deletion-related BBSOAS and guiding parental decision-making. - Source: PubMed
Publication date: 2026/04/19
Hao YingHuang QingfaXu YongLi XingpingLi PeiningWu WeiqingWu BoLiu Wenlan