Ask about this productRelated genes to: KCNQ5 antibody
- Gene:
- KCNQ5 NIH gene
- Name:
- potassium voltage-gated channel subfamily Q member 5
- Previous symbol:
- -
- Synonyms:
- Kv7.5
- Chromosome:
- 6q13
- Locus Type:
- gene with protein product
- Date approved:
- 2000-08-11
- Date modifiied:
- 2016-10-05
Related products to: KCNQ5 antibody
Related articles to: KCNQ5 antibody
- High-throughput transcriptomic technologies have advanced rapidly, enabling genome-wide gene expression profiling. Microarrays, introduced in 1995, laid the foundation for large-scale analysis but were later surpassed in 2008 by RNA sequencing (RNA-seq), which offers single-nucleotide resolution, detects low-abundance transcripts, and does not require prior sequence knowledge. Bulk RNA-seq provides robust insights into global transcriptomic changes but lacks single-cell resolution. Single-cell RNA-seq (scRNA-seq), introduced in 2009, addressed this limitation by revealing cellular heterogeneity and dynamic gene expression. However, its application in bone research is constrained due to difficulties in releasing bone cells called osteocytes from the mineralized matrix, often resulting in low yield and dissociation-induced artifacts. In order to address these challenges, single-nucleus RNA-seq (snRNA-seq), first introduced in 2016 to enable transcriptomic profiling from isolated nuclei, was used in this study. We developed a protocol for snRNA-seq on bone tissue, achieving high-yield recovery of osteocyte nuclei from snap-frozen, marrow-flushed long bones. This approach minimized dissociation bias and enhanced osteocyte representation. We applied this robust method to long bones from young adult male and female mice, generating a high-resolution map of osteocyte gene expression under physiological conditions. Compared to scRNA-seq datasets, where osteocytes represent only 0.18%-6.64% of cells, our snRNA-seq approach increased osteocyte capture and transcriptomic fidelity to 18.5%. We identified an osteocyte transcriptomic signature highlighting the top 30 genes, including , which is typically undetected or lowly-expressed in scRNA-seq. Notably, 23 of these genes have not been well-characterized in osteocytes, including , , , , , , and , which may represent novel regulators of osteocyte biology. This study represents the first application of snRNA-seq specifically for osteocyte analysis in bone tissue, providing a valuable resource for investigating osteocyte biology and skeletal disorders. - Source: PubMed
Publication date: 2026/03/26
Kitase YukikoJi JiaBonewald Lynda FPrideaux MatthewRoh Hyun CheolPeng Gang - This systematic review aimed to summarize recent progress in precision medicine for all studied potassium gene variants related to epilepsy. It analyzed studies conducted in cell and animal models and in humans. - Source: PubMed
Publication date: 2026/04/16
Xie ChangningYin FeiKessi MiriamPeng Jing - Alcohol use disorder (AUD) is known to have a significant genetic component, yet there remains a gap between its heritability and findings from genome-wide association studies. One potential explanation for this could be genetic interactions, or epistasis, which remain largely unexplored in the context of AUD. We investigated the role of epistasis in AUD susceptibility among 742 American Indians. By analyzing 467 K variants in 3,736 genes and regulatory elements linked to AUD, we identified 97 interacting gene pairs significantly associated with AUD severity in an American Indian cohort. Five of these gene pairs: CNTNAP2-GRM8, CSMD1-DLGAP1, CSMD1-ERBB4, CSMD1-MAML2, and KCNQ5-ROBO2 - were replicated in All of Us research American Indian cohort (N = 5,037). These genes were enriched for immune system, cell adhesion, neuronal, and disease pathways. Their expressions were particularly enriched in midbrain GABAergic neurons. This large-scale epistasis study of AUD suggests that epistasis may contribute to the development of AUD. - Source: PubMed
Publication date: 2026/04/06
Listopad StanislavPeng Qian - The etiology of autism currently includes prenatal exposure factors and genetic variants, but it remains unclear how these factors converge on a common pathway. Through multiple autism transcriptome analyses of public data, we discovered that the disruption of Gadd45a may explain the pathogenesis of various types of autism, including the most established valproic acid (VPA) prenatal exposure and MECP2 gene-related autism. Subsequently, we generated Gadd45a knockout mice and found that these mice exhibit significant deficits in social ability, as well as autistic-like phenotypes such as increased digging behaviors. We demonstrated the preferential expression of Gadd45a in cortical excitatory neurons. Through in vivo electrophysiological recordings, we found that the firing frequency of excitatory neurons in the medial prefrontal cortex of knockout mice is abnormal in both resting and task states, which may explain the autistic-like phenotypes exhibited by these mice. Remarkably, we revealed that abnormal neuron firing may be due to the failure of TET1, a GADD45A-interacting protein, to be recruited to the promoter region of Kcnq5, thereby preventing normal DNA demethylation and transcription initiation in the absence of GADD45A. We also demonstrated that GADD45A can recognize R-loop structure to recruit TET1 to the CpG islands of KCNQ5 and regulate the transcription level of KCNQ5. This process also involved nearby antisense lncRNA in the formation of R-loops. Our study revealed a hub gene, GADD45A, and its epigenetic regulation of ion channels (GADD45A/TET1-KCNQ5 axis), which plays a critical role in the pathogenesis of autism. - Source: PubMed
Publication date: 2026/02/26
Guo JuncenZhu BinZhang YingLi QingZhang JingHe QingDu JuanSong YuelinLi TongtongYin HengQue HanyunLi JiangtaoWu SixianHuang GelinJi ZhiliangXu PengXu WenmingTang Tian - Pathogenic variants of KCNQ2 lead to a spectrum of disorders including self-limited familial neonatal-infantile epilepsy (SeL(F)NIE), developmental and epileptic encephalopathies (DEEs), and neurodevelopmental disorders (NDDs) with intellectual disability (ID). This study aimed to delineate the clinical progression and underlying pathogenesis of these disorders. Particularly, we unraveled the role of gain-of-function (GoF) variants in neurodevelopmental impairment. - Source: PubMed
Publication date: 2026/01/24
Xiong JuanDuan HaolinChen JunYou XiaHe FangZhang CiliuYang LifenChen ChenDeng XiaoluYang LiMao LeileiWang GuoliChen ShimengZhang WenYin FeiXiao ZhenPeng Jing