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    GENE:

    EPB42 (Erythrocyte Membrane Protein Band 4.2)

    i
    Other names: EPB42, Erythrocyte Membrane Protein Band 4.2, PA, Erythrocyte Surface Protein Band 4.2, Erythrocyte Protein 4.2, Protein 4.2, MGC116735, MGC116737, P4.2, SPH5, E42P
    Associations

    News

    Trials
    over3years
    Metabolic Dysfunctions Driven By PRPF8 Explain Cases with Ring Sideroblasts without SF3B1 Mutations: Similarity/ Differences of Genotype/ Phenotype Association (ASH 2022)
    In analogy, given the proximal genomic location of PRPF8 and TP53 we do not exclude that this commonality might be involved in TP53MT with RS as well. These likely phenocopying mechanisms may enable therapeutic opportunities (luspatercept) in cases lacking SF3B1MT presenting with RS and transfusion-dependent anemia.
    Clinical
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    TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • DDX41 (DEAD-Box Helicase 41) • GATA1 (GATA Binding Protein 1) • EPB42 (Erythrocyte Membrane Protein Band 4.2) • SLC4A1 (Solute Carrier Family 4 Member 1)
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    Chr del(17p) • DNMT3A mutation • SF3B1 mutation
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    Reblozyl (luspatercept-aamt)
    over3years
    Discovering Breast Cancer Biomarkers Candidates through mRNA Expression Analysis Based on The Cancer Genome Atlas Database. (PubMed, J Pers Med)
    In total, 20 DE mRNAs had an area under cover of 0.9 or higher, demonstrating excellent diagnostic performance in breast cancer. Therefore, the results of this study will provide foundational data for planning preliminary studies to identify new tumor biomarkers.
    Journal
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    EPB42 (Erythrocyte Membrane Protein Band 4.2) • SIK1 (Salt Inducible Kinase 1)