Ask about this productRelated genes to: EPB42 antibody
- Gene:
- EPB42 NIH gene
- Name:
- erythrocyte membrane protein band 4.2
- Previous symbol:
- -
- Synonyms:
- PA, MGC116735, MGC116737
- Chromosome:
- 15q15.2
- Locus Type:
- gene with protein product
- Date approved:
- 1991-05-21
- Date modifiied:
- 2019-04-23
Related products to: EPB42 antibody
Related articles to: EPB42 antibody
- Individuals with admixed ancestry comprise a significant proportion of populations of the Americas. Statistical methods have been developed to specifically leverage local ancestry inference to enhance the power and interpretability of genome-wide association studies in admixed populations. However, no such methods currently exist to test for rare-variant aggregate associations. Here we present LANTERN (Leveraging local ANcestry Tracts to Enhance Rare variaNt aggregate associations), a method that infers the alleles that lie on each ancestral haplotype and conducts rare-variant aggregate association testing in a generalized linear mixed model framework. Through simulation studies we demonstrated that LANTERN achieves proper control of Type 1 error while boosting power to detect associations when causal alleles predominately lie on one ancestral haplotype. Using data from a cohort of African American participants from the Jackson Heart Study, LANTERN identified two genes known to be involved in red-blood cell (RBC) biology when local ancestry information was incorporated. Specifically, a burden of rare alleles on European ancestral haplotypes in was associated with both hemoglobin levels (HGB) and RBC counts, whereas a burden of rare alleles on African ancestral haplotypes in was associated with HGB and RBC. In summary, LANTERN (i) allows for the identification of ancestry-specific rare-variant associations; and (ii) enhances rare-variant association signals compared to an analysis that ignores local ancestry. LANTERN is implemented in R and is freely available on GitHub. - Source: PubMed
Publication date: 2026/04/27
Wang YuTuftin BjoernarRaffield Laura MHidalgo BerthaKerns Sarah LDeWan Andrew TLeal Suzanne MAuer Paul L - Hereditary spherocytosis (HS) is a genetically and clinically diverse red cell membrane disorder, with limited clinical and molecular data on pediatric patients from India. - Source: PubMed
Publication date: 2026/04/23
Chakraborty AnkitaKalra ManasSachdeva AnupamKotwal JyotiLanger SabinaSaraf AmritaRana PallaviDahiya SurbhiArya VandanaAggarwal SatishPrasad Alpana - Fetal growth restriction (FGR) affects ∼10% of pregnancies worldwide and is often associated with placental insufficiency. Iron is essential for maternal haematopoietic adaptations and placental processes such as mitochondrial iron-sulphur (Fe-S) cluster assembly, haem synthesis and erythropoiesis. This study aimed to characterise iron transport and downstream utilisation in FGR. Placental tissues from term uncomplicated (n = 19) and FGR (n = 18) pregnancies were analysed. Maternal iron status was retrospectively assessed from clinical records. Placental mRNA and protein expression of iron-dependent pathways were analysed via RT-qPCR, LC-MS and western blotting. Placental iron content was assessed histologically, and haem levels were measured by an activity assay. FGR pregnancies showed significantly elevated maternal serum ferritin and lower red cell distribution width, although these remained within normal clinical values. Placental iron uptake transporters TFRC and DMT1 were significantly upregulated, while the iron exporter to the fetus, ferroportin, was reduced, indicating increased iron retention in the FGR placenta. Despite altered transporter expression, Fe iron levels were unchanged, suggesting iron utilisation over storage. Subsequent investigations identified reduced mitochondrial Fe-S synthesis components (FDXR, FDX2, NDUFAB1, HSPA9), and a prioritisation of mitochondrial and cytosolic haem synthesis enzymes in FGR. Protein levels of haemoglobin subunits (HBG1, HBG2, HBB, HBA1) and erythrocyte membrane markers (EPB41, EPB42, SPTA1, SPTB, ANK1) were decreased. These findings reveal a compensatory response in FGR placentae, with increased iron uptake and utilisation favouring haem synthesis over Fe-S cluster formation, possibly to support oxygen handling under poor placental vascularisation and reduced fetal oxygenation, with potential consequences for mitochondrial energy metabolism. KEY POINTS: Iron plays a critical role in placental function, and while iron-dependent pathway components are well-characterised, their integrated response and adaptive reprogramming in fetal growth restriction (FGR) remain poorly understood. In FGR, maternal iron status was unchanged, however, placental iron uptake proteins were increased and ferroportin reduced, suggesting that the placenta retains iron. FGR placentae showed altered de novo mitochondrial iron-sulphur cluster (Fe-S) formation and a bottleneck in late-stage Fe-S cluster assembly. This shift in Fe-S synthesis prioritises mitochondrial and cytosolic haem synthesis pathways, consistent with increased haem utilisation and breakdown. Globin subunits were lower in protein abundance and impaired placental erythrocyte structure in FGR. Dysregulation of erythrocyte membrane proteins in FGR placentae suggests altered erythrocyte structure, potentially representing an adaptive response to inadequate vascularisation, attempting to optimise oxygen delivery to the fetus. - Source: PubMed
Publication date: 2026/02/16
Botha Veronica BMurray Heather CAcharya SiddharthPringle Kirsty GSmith RogerFisher Joshua J - Resistant hypertension (RH) is one of the high-risk types within the spectrum of hypertensive disorders, characterized by a complex pathogenesis. To identify hub differentially expressed genes (DEGs) associated with this disease, this study performed transcriptome sequencing on 30 blood samples collected in 2022 from the Affiliated Hospital of Shandong University of Traditional Chinese Medicine and Jinan Fifth People's Hospital (comprising 10 hypertensive patients, 10 RH patients, and 10 healthy controls). Using DESeq2 analysis, 731 DEGs were initially screened. Subsequently, weighted gene co-expression network analysis (WGCNA) identified 2 modules significantly associated with RH (containing 1,944 genes). Taking the intersection of these module genes and the DEGs yielded 229 key DEGs. Gene Ontology (GO) enrichment analysis revealed that these key DEGs were significantly enriched in biological processes such as drug catabolic process, cellular components like hemoglobin complex, and molecular functions including peroxidase activity. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis indicated that these DEGs were associated with pathways such as the VEGF signaling pathway and mitophagy. A protein-protein interaction (PPI) network was further constructed. Using the cytohubba plugin in Cytoscape software, hub genes were identified by integrating the results from 12 algorithms (taking the intersection of the top 20 genes from each algorithm), preliminarily determining , and as the hub DEGs. Validation by qRT-PCR confirmed that the expression changes of 1 and were consistent with the sequencing results. This study suggests that the development of RH involves the synergistic action of multiple genes, and perturbations in hub genes (, ) and related pathways (VEGF signaling pathway, mitophagy) may play significant roles in the disease process. These findings provide new insights for a deeper understanding of the pathological mechanisms underlying RH. - Source: PubMed
Jiang TongPeng Shi-JingWang Shan-ShanWang Yu-QiZhao Wen-JieYang Wen-Qing - Hereditary spherocytosis (HS) is an inherited disorder characterized by spherical erythrocytes and abnormalities of several erythrocyte membrane proteins with extreme genotypic and phenotypic heterogeneity. HS patients were clinically diagnosed by the presence of spherical erythrocytes on the peripheral blood smear, hemolytic anemia, jaundice, and splenomegaly, with or without cholelithiasis or gallstones. To date, mutations of five genes (, , and ) have been reported to be associated with different subtypes of HS. Germline mutations of the gene cause autosomal dominant HS (Spherocytosis 2, SPH2), the rarest subtype of HS. - Source: PubMed
Publication date: 2025/11/14
Cao KeLuo XiaojuanLiu LianlianMao XiaoningLiu RupingChen YunshengBanerjee Santasree