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RBM8A

Chr 1q21.1

RNA binding motif protein 8A

Aliases:
ZNRP, BOV-1A, BOV-1B, BOV-1C, Y14
MANE:
ENST00000583313.7
OMIM: 605313 ↗NCBI: 9939 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Inherited bleeding disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Radial dysplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Clefting

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • thrombocytopenia-absent radius syndrome

    0.78

  • Thrombocytopenia - absent radius

    0.77

  • hereditary disease

    0.48

  • neurodegenerative disease

    0.31

  • Clinodactyly of the 5th finger

    0.27

  • Global developmental delay

    0.27

  • Abnormal brain morphology

    0.27

  • hepatocellular carcinoma

    0.10

  • breast cancer

    0.10

  • glioblastoma

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

RNA-binding protein 8A

Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. The MAGOH-RBM8A heterodimer is a component of the nonsense mediated decay (NMD) pathway. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.