Ask about this productRelated genes to: KCND2 antibody
- Gene:
- KCND2 NIH gene
- Name:
- potassium voltage-gated channel subfamily D member 2
- Previous symbol:
- -
- Synonyms:
- Kv4.2, RK5, KIAA1044
- Chromosome:
- 7q31.31
- Locus Type:
- gene with protein product
- Date approved:
- 1992-10-05
- Date modifiied:
- 2016-10-05
Related products to: KCND2 antibody
Related articles to: KCND2 antibody
- Enhancing growth traits is a key goal in sustainable meat goat production and is often regarded as a primary objective in breeding programmes for meat goats. In this study, whole genome low-depth sequencing data of 300 Longling yellow female goats were used to detect the genome-wide single-nucleotide polymorphisms (SNPs), and the genome-wide association study (GWAS) based on SNPs was performed for the BW, body height (BH), body length (BL), chest circumference (CC), chest depth (CD), chest width (CW), and cannon circumference (cc) at the ages of 3, 9, and 12 months. After genotype imputation and quality control, 6 153 300 SNPs were retained for further analysis. A total of 129 genome-wide significant SNPs were obtained, and these SNPs were annotated to 146 candidate genes associated with body size traits, such as MMP16, MECOM for BW; SCD5, LEF1 for BL; and PDE4D, KCND2 for BH. EPHA5 is pleiotropic, associated with BW, BL, BH, CC, and CW. Notably, ADAMTS3 was linked to CD, while GIGYF2 and DGKB were associated with cc. Functional analysis revealed that 13 candidate genes are implicated in pivotal biological processes, including extracellular matrix organisation and lipid metabolism. Notably, EPHA5, ROS1, and EPHA3 were significantly enriched in molecular functions related to growth factor receptor activity. These findings offer valuable genetic markers for genomic selection in goats, thereby providing resources for advancing precision breeding programmes. - Source: PubMed
Publication date: 2026/01/22
He X YWei Y SKuang J CLi Z FYu Z XWang X YDi RZhu C YChu M X - The gene encodes the Kv4.2 voltage-gated potassium channel alpha subunit that underlies the somatodendritic subthreshold A-type current (I) important for membrane excitability and dendritic signal integration and processing. A heterozygous missense mutation in (NM_012281.2: c.1210G>A) was identified in patients with early-onset epilepsy, autism, and global developmental delay, producing a conservative replacement of valine 404 to methionine (Lee et al., 2014; Zhang et al., 2021). To investigate the potential pathological role of the Kv4.2 mutation, we generated Kv4.2 heterozygous knock-in C57BL/6J mice using CRISPR technology and compared features of development, physiology, and behavior of Kv4.2 mice to age- and sex-matched wild-type (Kv4.2) littermate controls. Kv4.2 mice exhibit significant mortality during early development (>50%), poor reproductive behavior, decreased body weight of males (25-30%), altered I functional properties, and 4-5 Hz spike-wave epileptiform discharges. These discharges occur frequently during periods of inactivity, with over 80% occurring during nonrapid eye movement sleep. ΔFosB was found to be significantly elevated in the cortex and hippocampus of Kv4.2 mice. A combination of home-cage measurements and behavioral assays reveals that Kv4.2 mice exhibit significant alterations in exploratory behavior, social interaction, fear conditioning, and spatial memory. Our results indicate that the Kv4.2 mutation is sufficient to produce a dominant spectrum of physiological and behavioral changes in mice that likely have important implications for understanding the etiology and potential therapeutic approaches for this human channelopathy. - Source: PubMed
Publication date: 2026/02/11
Jerng Henry HSilva-Pérez ManuelDavid Laurence SChin JeannieKrishnan VaishnavPfaffinger Paul J - Reproductive performance is a critical aspect of livestock production and sustainability. The number of stillbirths (NS) and mummified (NM) piglets significantly affect reproductive efficiency in swine production. Identifying and understanding the genetic architecture and candidate genes influencing these reproductive loss traits are essential for genetic inheritance studies and selective breeding programs in the swine breeding industry. To elucidate the genetic architecture of these traits, we performed a genome-wide association study (GWAS) using porcine 70 K BeadChip arrays from 1,162 Duroc, 1,783 Landrace, and 2,366 Yorkshire pigs. - Source: PubMed
Publication date: 2025/11/18
Mekonnen Kefala TayeLee Dong-HuiBeyenssa Befekadu ChemereSon Ah-YeongCho Young-GyuSeo Kang-Seok - American Indians and Hispanics/Latinos have a high burden of chronic kidney disease (CKD) and they may share disease associated genetic variants. This study aims to identify loci for CKD and albuminuria that are shared between these populations. - Source: PubMed
Reynolds Kaylia MPasteris JeremyBest Lyle GCai JiawenKramer Holly JLash James PCole ShelleyMorris Andrew PFranceschini Nora - Brain-expressed voltage-gated sodium (Nav) and potassium (Kv) channels are essential for maintaining the balance of neuronal excitability, each having opposing effects on membrane potential and neuronal firing. Genetic alterations in these channels can disrupt this balance, leading to epilepsy and/or developmental impairments through gain-of-function (GoF) or loss-of-function (LoF) mechanisms. This review catalogs 48 transgenic mouse models involving sodium channels (SCN1A, SCN2A, SCN3A, SCN8A) and potassium channels (KCNQ2, KCNQ3, KCNT1, KCNA1, KCNB1, KCND2), detailing the effects of genetic alterations in terms of channel function, affected cell types, and phenotypic manifestations. Mechanistic insights from these models reveal that initial channel dysfunction triggers cascading pathological processes including glutamate excitotoxicity, oxidative stress, gliosis, neuroinflammation, and blood-brain barrier disruption. Therapeutic approaches include antisense oligonucleotides to enhance functional allele expression or reduce pathogenic channel expression, viral-mediated gene therapy, gene editing, and small molecule modulators that target persistent sodium currents or that stabilize channel inactivation. The timing of intervention appears to be critical, with early treatment showing greater efficacy in preventing pathological cascades. Strain-specific background effects and compensatory ion channel expression affect phenotypic severity and treatment response, complicating translation of model results. Importantly, transgenic models offer opportunities to better understand mechanisms underlying comorbidities commonly suffered by patients, including behavioral disorders, motor impairments, and sleep disturbances. The integration of these findings suggests that effective treatment strategies may require combinations of channel-directed therapies and interventions targeting downstream pathological processes, particularly for established disease. This comprehensive examination of channelopathy models provides a framework for developing transformative therapeutics for genetic epilepsies. - Source: PubMed
Hammer Michael F