SCNN1D
- Known as:
- SCNN1D
- Catalog number:
- Y214329
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- SCNN1D
Related genes to: SCNN1D
- Gene:
- SCNN1D NIH gene
- Name:
- sodium channel epithelial 1 delta subunit
- Previous symbol:
- -
- Synonyms:
- ENaCdelta, dNaCh
- Chromosome:
- 1p36.33
- Locus Type:
- gene with protein product
- Date approved:
- 1997-04-16
- Date modifiied:
- 2016-10-05
Related products to: SCNN1D
Related articles to: SCNN1D
- The epithelial sodium channel (ENaC) plays a key role in salt and water homeostasis in tetrapod vertebrates. There are four ENaC subunits (α, β, γ and δ) which form heterotrimeric αβγ- or δβγ-ENaC assemblies. ENaC activity is tightly coupled to proteolytic processing of ENaC subunits, but this effect is specific to ENaC subunit assembly and mechanistically not completely understood. Guinea pig αβγ- or δβγ-ENaCs were heterologously expressed in oocytes and their control by extracellular proteases was investigated using protein biochemistry, two-electrode voltage-clamp and patch-clamp electrophysiology. Guinea pig αβγ-ENaC activity was tightly coupled to cleavage of its α- and γ-subunits by the endoprotease furin and extracellular chymotrypsin or trypsin. By contrast, δβγ-ENaC activity was not affected by proteases, despite cleavage of its γ-subunit by chymotrypsin. Experiments using a β-ENaC substitution, which locks ENaC in an open state after exposure to the sulfhydryl-reagent [2-(trimethylammonium)ethyl] methanethiosulfonate (MTSET), demonstrated that guinea pig δβγ-ENaCs are almost fully open when expressed in oocytes. On-cell single-channel patch-clamp recordings confirmed that the open probability of guinea pig δβγ-ENaC is nearly 90%. These data indicate that guinea pig δβγ-ENaC is locked in an open state and thereby uncoupled from channel control by proteases. - Source: PubMed
Publication date: 2026/04/25
Lawong Rene YufenyuyEtang Etang CollinsMay FabianVorrat PhilippRauh OliverAlthaus Mike - The epithelial sodium channel (ENaC) is essential for osmoregulation in tetrapod vertebrates. There are four ENaC-subunits (α, β, γ, δ) which form αβγ- or δβγ-ENaCs. While αβγ-ENaC is a 'maintenance protein' controlling sodium homeostasis, δβγ-ENaC might represent a 'stress protein' monitoring high sodium concentrations. The δ-subunit emerged with water-to-land transition of vertebrates. We examined ENaC evolution in Cetartiodactyla, a group including even-toed ungulates and cetaceans (whales, dolphins and porpoises) which returned to marine environments in the Eocene. Genes for α-, β-, and γ-ENaC are intact across Cetartiodactyla. While SCNN1D (δ-ENaC) is intact in terrestrial Artiodactyla, it is a pseudogene in cetaceans. A unique fusion of SCNN1D exons 11 and 12 is observed in the Antilopinae. Transcripts of α-, β-, and γ-ENaC are present in kidney, lung and skin tissues of Bottlenose dolphins, underscoring αβγ-ENaC's maintenance role. Bottlenose dolphins and Beluga whales do not show behavioural differences between sodium-containing and sodium-free stimuli, supporting a function of δ-ENaC as a sodium sensing protein which might have become obsolete in high-salinity marine environments. Consistently, there is reduced selection pressure or pseudogenisation of SCNN1D in other marine mammals. Erosion of SCNN1D might therefore be a consequence of environmental transition in marine mammals. - Source: PubMed
Publication date: 2025/07/04
Zahnow FynnJäger ChiaraMohamed YassminVogelhuber GianlucaMay FabianCiocan Alexandra MariaManieri AriannaMaxeiner StephanKrasteva-Christ GabrielaSchnappauf OskarCobain Matthew R DPodsiadlowski LarsCrespo-Picazo José LuisGarcía-Párraga DanielAlthaus Mike - Genome-wide scan for run of homozygosity (ROH) stretches, effective population size (Ne) and selection signatures can help to elucidate mechanisms of selection and pinpoint genomic regions linked with phenotypic traits. This study aimed to identify the genomic patterns of ROH, Ne and selection signatures in two Iranian main sheep breeds including Afshari and Qezel (known as meat and dairy sheep, respectively) using 49,017 single nucleotide polymorphisms (SNPs) generated using the ovine 50K SNP BeadChips. Analysis of ROH in Iranian sheep breeds revealed the differences in the pattern of ROH length and burden in these breeds. Inbreeding estimated based on ROH stretches showed very low amount of inbreeding in these indigenous sheep breeds. The Qezel breed displayed a higher Ne than Afshari breed. Furthermore, the potential selection was detected in genomic regions using three complementary approaches including FST (fixation index), XP-EHH (cross-population extended haplotype homozygosity), and hapFLK (haplotype differentiation). Our results identified the genomic regions that were enriched with the genes associated with immune response (e.g., IL23A, STAT2 and DOCK5), milk traits (e.g., PCCA, ACAP3, TTK and BTG3), energy metabolisms (e.g., GLS2), reproduction (e.g., ANGPT2), fecundity (e.g., BMP5), nervous system (e.g., DLG2, PCDH9, and FRMPD4), growth traits and muscle formation (NPY, MYF5 and PPP1R12A), and sweat gland development (SCNN1D). Some regions were also detected for the first time and overlapped with no genes suggesting novel loci associated with traits that differentiate these breeds. Overall, the finding of this study may shed light on the genomic regions linked to economically important traits in sheep as well as for developing the conservation and selection breeding programs. - Source: PubMed
Publication date: 2025/06/11
Yousefi ZohreMoradi Mohammad HosseinBeige-Nasiri Mohammad TaghiShirali MasoudAbdollahi-Arpanahi Rostam - Epithelial sodium channels (ENaCs) are essential for sodium (Na) transport and maintaining fluid balance, which is vital for the removal of fetal fluid at birth and the homeostasis of luminal fluid in the lungs. In mice, ENaC is composed of three subunits (α, β, and γ). However, in humans, a fourth δ-subunit is also expressed. This study investigated the physiological role of the δ-ENaC in fetal/neonatal lungs, an area that remains less explored despite its potential significance. We measured expansion in mouse E15 lung explants expressing human δ-ENaC (SCNN1D-Tg). We found that transgenic expression of δ-ENaC enhanced fluid absorption and significantly reduced the surface area increase compared with wild-type (WT) explants (142.30 ± 5.81% vs. 163.80 ± 5.95% expansion, < 0.001). Amiloride treatments revealed that both α-ENaC and δ-ENaC contributed to fluid absorption. No statistical significance was observed in the amiloride-sensitive fraction of SCNN1D-Tg explants compared with WT preparations in the presence of 100 µM amiloride ( = 0.400). In contrast, a significant reduction in amiloride-sensitive fraction in SCNN1D-Tg explants was observed in the presence of 10 µM amiloride ( < 0.001). Furthermore, specific blocking of α-ENaC using α-13 inhibitory peptide resulted in a 2.12-fold growth increase in WT explants, compared with a 1.47-fold increase in SCNN1D-Tg explants ( < 0.001). In summary, this study provides evidence that δ-ENaC may contribute to fluid absorption in E15 and newborn lungs, highlighting its significance in alveolar fluid regulation in prenatal and postnatal lungs. The findings of our study highlight the significance of δ-ENaC in lung fluid regulation. Transgenic expression of human δ-ENaC contributes to fluid absorption increase, supporting its potential as a pathway for alveolar fluid clearance in E15 and postnatal lungs. - Source: PubMed
Publication date: 2025/04/17
Jain Krishan GZhao RunzhenZhang JiwangJi Hong-Long - The global rise in hypertension prompts the use of medications to manage blood pressure. However, selecting first-line drugs remains challenging as their efficacy often stems from blood pressure reduction rather than specific pharmacological actions. Evaluating interactions between antihypertensive drugs and common diseases can aid tailored treatment. Here, we assess the potential link between antihypertensives and inflammatory bowel disease (IBD). Summary-level coronary heart disease (CHD) data (184,305 individuals), systolic BP (SBP) data (757,601 individuals), ulcerative ileocolitis data (361,188 individuals), ulcerative colitis data (364,454 individuals), other ulcerative colitis data (361,619 individuals), and ulcerative proctitis data (361,700 individuals) were all from genome-wide association studies (GWASs), FinnGen or eQTL studies publicly accessible. The DrugBank10 and ChEMBL11 databases function to identify genes encoding protein products targeted by active constituents of BP-lowering drugs. Summary-data-based MR (SMR) estimated the associations between expressions of drug target genes and symptoms of IBD. A multivariable MR study was further conducted to examine if the observed association was direct association. Subsequently, we collected blood samples from IBD patients in the Gastroenterology Department of Gastroenterology, the First Affiliated Hospital of Anhui Medical University and blood from healthy individuals at the physical examination center. Real-time quantitative PCR was employed to detect the expression changes of drug target genes in the peripheral blood of patients with IBD. Furthermore, we used Caco2 cells to construct an in vitro model of IBD, examined the expression of the target molecules, and verified the potential of Bumetanide to improve IBD. SMR analysis revealed that enhanced SLC12A2 gene expression in blood (equivalent to a one standard deviation increase) was a risk factor for ulcerative ileocolitis (beta = 0.5861, se = 0.2972, p = 0.0486) and enhanced gene expression of ACE was a protective factor. Additionally, SCNN1D and SLC16A1 played protective roles of IBD, while NR3C1 was identified as a risk factor. However, among these genes, only SLC12A2 was considered to influence the progress of inflammatory bowel disease through systolic blood pressure based on Mendelian randomization analysis results. Other genes may be associated with IBD depending on the expression of their own proteins, independent of changes in blood pressure. In the peripheral blood of IBD patients and in vitro experiments, SCL12A2 has been shown to be highly expressed in IBD. In vitro experiments have confirmed that Bumetanide can inhibit SCL12A2 to improve tight junctions, reduce inflammation levels, and ameliorate IBD symptoms. Therapeutic inhibition of SCL12A2 may benefit patients with IBD. In the future, this study may contribute to the selection of more personalized antihypertensive medications for different subgroups of hypertensive patients. - Source: PubMed
Publication date: 2025/02/06
Yu XinCao YongshengMao ChangkunTao ChengpinChen Wei