KCNA5 antibody - N-terminal region (ARP33977_P050)
- Known as:
- KCNA5 (anti-) - N-terminal region (ARP33977_P050)
- Catalog number:
- arp33977_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- KCNA5 antibody - N-terminal region (ARP33977_P050)
Related genes to: KCNA5 antibody - N-terminal region (ARP33977_P050)
- Gene:
- KCNA5 NIH gene
- Name:
- potassium voltage-gated channel subfamily A member 5
- Previous symbol:
- -
- Synonyms:
- Kv1.5, HK2, HPCN1
- Chromosome:
- 12p13.32
- Locus Type:
- gene with protein product
- Date approved:
- 1991-08-13
- Date modifiied:
- 2016-10-11
Related products to: KCNA5 antibody - N-terminal region (ARP33977_P050)
Related articles to: KCNA5 antibody - N-terminal region (ARP33977_P050)
- We previously identified broad candidate regions under selection in three ecotypes (plain, hill, and mountain) of Sarda and Valle del Belice sheep across altitudinal gradients using medium-density SNP chips. Here, we employed high-density genotyping data from independent animals to validate and refine these regions, focusing on adaptive signatures in the mountain ecotype. Joint analyses of the three ecotypes confirmed selection signals on chromosomes 19 and X in Sarda and on chromosome 3 in Valle del Belice. In Sarda, five genes were identified, including KDM6A, a key regulator of mammary function and stress response. In Valle del Belice, KCNA5 and KCNA6 (voltage-gated potassium channels) and GALNT8 (involved in glycosylation and immune regulation) emerged as candidates linked to cardiac and neuronal electrophysiology and health traits. We found little overlap between the candidate regions identified by the two approaches. Between-ecotype comparisons further confirmed and refined selection signals in the mountain ecotype, particularly on chromosome 3 in both breeds. We identified several missense, synonymous, and intronic variants within genes involved in the regulation of neuroendocrine, nervous, and cardiovascular systems, as well as immune response, respiratory efficiency, and musculoskeletal development, highlighting the multifaceted adaptations of the mountain ecotypes of both breeds to mountainous environments. Overall, our high-density analyses corroborate previous findings from the medium-density chip and, in several cases, refine the candidate regions detected. Although the specific genes under selection differ between the mountain ecotypes of Sarda and Valle del Belice sheep, they converge on similar biological pathways and functions, suggesting parallel adaptive mechanisms to high-altitude conditions. - Source: PubMed
Ben Jemaa SlimSenczuk GabrieleDimauro CorradoPortolano BaldassareCesarani AlbertoMastrangelo Salvatore - Cumulus cells (CCs), derived from granulosa cells, play a key role in supporting oocyte maturation and development through bidirectional communication. However, their electrophysiological properties in humans are poorly defined. Here, we characterized ionic currents and their modulation in primary human CCs obtained from patients undergoing in vitro fertilization. Whole cell patch-clamp recordings identified three electrophysiological sub-populations: CC-type 1, expressing voltage-dependent K currents supported mainly by potassium voltage-gated channel subfamily A member 5 (K1.5, KCNA5); CC-type 2, predominantly showing a barium-sensitive cationic current attributable to transient receptor potential cation channel subfamily M member 5 (TRPM5); and CC-type 3, displaying mainly a noisy and voltage-dependent K current typical of potassium calcium-activated channel subfamily M alpha 1 (BK, KCNMA1). Pharmacological experiments, immunocytochemistry and rt-PCR confirmed the molecular expression of KCNA5, TRPM5 and KCNMA1. Mild extracellular acidification (pH = 6.2) rapidly and reversibly blocked TRPM5-like current, both inward and outward. Furthermore, 100 μM ATP induced metabotropic responses, evoking coupled intracellular Ca release and activating TRPM5-mediated currents, as demonstrated by experiments with patch-clamp and FURA-2 calcium imaging. These findings reveal that human CCs integrate extracellular acidity and purinergic signals via distinct ion channels, suggesting a role as electrochemical sensors of the follicular microenvironment. - Source: PubMed
Biagini AndreaGentile RosariaCorbucci CristinaMariani MonicaFavilli AlessandroGerli SandroFioretti Bernard - Human organ structure and function are important endophenotypes for clinical outcomes. Genome-wide association studies (GWAS) have identified numerous common variants associated with phenotypes derived from magnetic resonance imaging (MRI) of the brain and body. However, the role of rare protein-coding variations affecting organ size and function is largely unknown. Here we present an exome-wide association study that evaluates 596 multi-organ MRI traits across over 50,000 individuals from the UK Biobank. We identified 107 variant-level associations and 224 gene-based burden associations (67 unique gene-trait pairs) across all MRI modalities, including PTEN with total brain volume, TTN with regional peak circumferential strain in the heart left ventricle, and TNFRSF13B with spleen volume. The singleton burden model and AlphaMissense annotations contributed 8 unique gene-trait pairs including the association between an approved drug target gene of KCNA5 and brain functional activity. The identified rare coding signals elucidate some shared genetic effects across organs, prioritize previously identified GWAS loci, and are enriched for drug targets. Overall, we demonstrate how rare variants enhance our understanding of genetic effects on human organ morphology and function and their connections to complex diseases. - Source: PubMed
Publication date: 2025/12/23
Fan YijunChen JieFan ZiruiChirinos JulioStein Jason LSullivan Patrick FWang RujinNadig AjayZhang David YHuang ShuaiJiang ZhiwenGuan Peter YiQian XinjieLi TingLi HaoyueSun ZehuiRitchie Marylyn DO'Brien Joan MWitschey WalterRader Daniel JLi TengfeiZhu HongtuZhao Bingxin - Skeletal patterning relies on a complex network of molecular and genetic regulators. However, our understanding of pathways governing joint placement and morphogenesis remains incomplete. Prior studies have demonstrated that medially located Cx43 mediated gap junctional intercellular communication (GJIC) inhibits joint formation by the adjacent lateral skeletal precursor cells, and thereby determines skeletal patterning in the teleost regenerating fin. Here, we test the model that Cx43-GJIC regulates joint formation by propagating changes in membrane potential (ΔV). To provide evidence that ΔV is sufficient to influence joint formation, we generated a transgenic line that expresses the X. laevis voltage-gated channel, shaker-related subfamily, member 5 (kcna5) behind the temperature-inducible heat shock protein 70 (hsp70) promoter. Using this line, we demonstrate that Xl-kcna5 overexpression delays evx1 expression and causes longer segments. Moreover, the increased segment length in response to Xl-Kcna5 overexpression requires Cx43. These findings support a model whereby potassium channels act together with gap junction channels to influence joint formation, and therefore skeletal patterning, in the zebrafish regenerating fin. - Source: PubMed
Publication date: 2025/09/03
Seaver Alexander WLi XinxhaoIovine M Kathryn - Genetic factors promoting cognitive preservation in high-risk older adults for Alzheimer's disease (AD) risk remain understudied. Among Midwestern Amish with elevated AD genetic risk, we hypothesized ranking sibships by mean genetic risk scores during linkage analysis would reveal loci influencing preserved cognition. - Source: PubMed
Dorfsman Daniel APrough Michael BGulyayev Alex VCaywood Laura JClouse Jason EHerington Sharlene DSlifer Susan HAdams Larry DLaux Renee ASong Yeunjoo ELynn AudreyFuzzell Sarada LHochstetler Sherri DMiskimen KristyMain Leighanne RWang PingLiu YiningMoore NoelOgrocki PaulaLerner Alan JVance Jeffery MCuccaro Michael LHaines Jonathan LPericak-Vance Margaret AScott William K