Ask about this productRelated genes to: Scfd2 Blocking Peptide
- Gene:
- SCFD2 NIH gene
- Name:
- sec1 family domain containing 2
- Previous symbol:
- -
- Synonyms:
- STXBP1L1, FLJ39514
- Chromosome:
- 4q12
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-15
- Date modifiied:
- 2015-08-25
Related products to: Scfd2 Blocking Peptide
Related articles to: Scfd2 Blocking Peptide
- Protein trafficking is a fundamental process for cellular organization and signaling. However, identifying the specific machinery that packages cargo into transport vesicles has been a significant challenge. Conventional proximity biotinylation methods often fail to distinguish proteins that are merely near a cargo from those that are functionally co-packaged into the same vesicles, leading to high background noise. To address this limitation, we developed an integrated strategy that combines proximity biotinylation with an reconstituted vesicle formation assay. Applying this method to the signaling morphogen Sonic hedgehog (Shh), we successfully enriched and identified proteins co-incorporated into Shh-containing vesicles. Comparative proteomics and subsequent functional validation revealed two novel regulators of Shh secretion: ER-Golgi Intermediate Compartment Protein 2 (ERGIC2), which is essential for efficient ER-to-Golgi transport, and Sec1 Family Domain Containing 2 (SCFD2), which is critical for post-Golgi export. This study establishes a generalizable method to map vesicle-associated interactomes and provides a more comprehensive molecular framework for the regulated secretion of this important morphogen. - Source: PubMed
Publication date: 2026/05/13
Song ZiyangChen ZixinTian YeWang QianyuanZhao XiaoxuGuo YusongTang Xiao - Livestock expresses complex traits influenced by several factors. The response of animals to variations in climatic factors, such as increases in temperature, may induce heat stress conditions. In this study, animals living at different temperatures were compared using the genome-wide Wright fixation index (). A total of 825 genotypes of Sarda breed ewes were divided into two groups based on the flocks' average temperature over a 20-year period to compute the : 395 and 430 sheep were represented in colder and hotter groups, respectively. After LOWESS regression and CONTROL CHART application, 623 significant markers and 97 selection signatures were found. A total of 280 positional candidate genes were retrieved from a public database. Among these genomic regions, we found 51 annotated genes previously associated with heat stress/tolerance in ruminants (, , , , and ), as well as immune response and cellular mechanisms related to how animals cope with thermal stress (, , , and ). Moreover, other genes were associated with milk fat (, , , and ), body weight, body fat, and intramuscular fat composition (, , , , , , and ), which might suggest the influence of environmental conditions on the genome of Sarda sheep. - Source: PubMed
Publication date: 2024/12/12
Gaspa GiustinoCesarani AlbertoPauciullo AlfredoPeana IlariaMacciotta Nicolò P P - Seminal plasma extracellular vesicles (SPEVs) play an important role in regulating sperm motility by delivering various cargoes, such as miRNAs, mRNAs, proteins and metabolites. However, information on the lipid compositions of SPEVs and their roles in semen quality is limited. Here, we performed high-throughput transcriptomic and lipidomic analysis on SPEVs isolated from 20 boars with high or low sperm motility. Then, we evaluated the lipid composition and gene expression characteristics of SPEVs and identified the specific lipids and genes related to sperm motility. As a result, a total of 26 lipid classes were identified in SPEVs, and five subclasses, CerG2, CerG3, LPE, LPS and TG, were significantly different in boars with high and low sperm motility. In addition, 195 important lipids and 334 important genes were identified by weighted gene coexpression analysis (WGCNA) and differential expression analysis. We observed that several important genes and lipids in SPEVs potentially influence sperm motility via glycerophospholipid metabolism, glycerolipid metabolism, the sphingolipid signaling pathway and the ferroptosis pathway. Furthermore, we found a significant correlation between the content of 22 lipids and the expression levels of 67 genes (|cor| > 0.8, P < 0.05). Moreover, we observed that three important gene-lipid linkages (CerG1 (d22:0/24:0) - RCAN3, Cer (d18:1/24:0) - SCFD2 and CerG1 (d18:0/24:1) - SCFD2) were strongly correlated with sperm motility. Based on the results, some genes and lipids in SPEVs may play important roles in sperm motility by interacting with sperm through important pathways. - Source: PubMed
Publication date: 2024/09/02
Ding NingZhang YuWang JiayaoLiu JianfengZhang JingZhang ChunZhou LeiCao JinkangJiang Li - This study investigated the genetic underpinnings of autism spectrum disorder (ASD) in a Middle Eastern cohort in Qatar using exome sequencing. The study identified six candidate autism genes in independent simplex families, including both four known and two novel autosomal dominant and autosomal recessive genes associated with ASD. The variants consisted primarily of and homozygous missense and splice variants. Multiple individuals displayed more than one candidate variant, suggesting the potential involvement of digenic or oligogenic models. These variants were absent in the Genome Aggregation Database (gnomAD) and exhibited extremely low frequencies in the local control population dataset. Two novel autism genes, and , were discovered in two Qatari autism individuals. Furthermore, the D651A substitution in and the splice acceptor variant in were identified as likely deleterious mutations. Protein modeling was utilized to evaluate the potential impact of three missense variants in , , and on their respective structures and functions, which strongly supported the pathogenic natures of these variants. The presence of multiple mutations across trios underscored the significant contribution of mutations to the genetic etiology of ASD. Functional assays and further investigations are necessary to confirm the pathogenicity of the identified genes and determine their significance in ASD. Overall, this study sheds light on the genetic factors underlying ASD in Qatar and highlights the importance of considering diverse populations in ASD research. - Source: PubMed
Publication date: 2023/10/31
Gupta VijayBen-Mahmoud AfifKu BonsuVelayutham DineshJan ZainabYousef Aden AbdiKubbar AhmadAlshaban FouadStanton Lawrence WJithesh Puthen VeettilLayman Lawrence CKim Hyung-Goo - Hypereosinophilic syndrome requires a peripheral absolute eosinophil count of ≥1.5 × 109 /L with clinical manifestations attributable to peripheral or tissue hypereosinophilia. Clinical manifestations can vary greatly, with the majority of patients relatively asymptomatic and the eosinophilia detected incidentally. However, in a minority of hypereosinophilia cases, they may present with severe lifethreatening organ dysfunction affecting skin, lung, heart, gastrointestinal tract, and nervous system. A case of hypereosinophilia with potentially life-threatening cardiovascular involvement is discussed. Initial laboratory investigations showed an elevated white blood cell count with 60% eosinophils. An endomyocardial biopsy revealed eosinophilic endomyocarditis with granuloma, rare giant cells, and no vasculitis, microorganisms, or malignancy. Her presentation met the criteria for either hypereosinophilic syndrome or eosinophilic granulomatosis with polyangitis. Molecular genetic analysis was negative for myelodysplastic syndrome panel/ Platelet Derived Growth Factor Receptor Beta (PDGFRB) (5q32)/Fibroblast Growth Factor Receptor 1 (FGFR1) Fluorescence In Situ Hybridization (FISH), Feline McDonough Sarcoma-related Tyrosine Kinase 3 (FLT3) Internal Tandem Duplication (ITD) mutation, Calregulin (CALR) exon 9 mutation, and T-cell gene rearrangement/polymerase chain reaction. Bone marrow biopsy revealed a mildly hypocellular marrow with multilineage hematopoiesis,+ megakaryocyte dysplasia, and focal eosinophilia. No excess blasts, no monotypic B-cell population, and no discrete pan T-cell aberrancies were found. Bone marrow cytogenetic studies showed a normal signal pattern for myeloproliferative neoplasms panel/Sec1 Family Domain Containing 2 (SCFD2)-Ligand of Numb Protein-X (LNX)-Platelet-derived Growth Factor Receptor Alpha (PDGFRA) fluorescence in situ hybridization with a normal karyotype of 46 XX. Next-generation sequencing, however, was positive for the JAK2-V617F mutation, a rare molecular abnormality in hypereosinophilic syndrome. The prevalence ranges from approximately 0% to 4%. The JAK2 point mutation leads to aberrant tyrosine phosphorylation and increased cytokine activation. The case demonstrates the complexity and challenging nature of advanced diagnostic opportunities in hypereosinophilia and the potential use, in select subsets, of targeted treatments such as tyrosine kinase inhibitors. - Source: PubMed
Tesfamicael RutaAung ThandaDomin Lee ThomasBrahn Ernest