RPL36A-HNRNPH2 gene: readthrough transcript, function, and disease relevance

RPL36A-HNRNPH2 is a readthrough transcript that spans the adjacent RPL36A and HNRNPH2 genes on chromosome Xq22.1. The transcript produces a fusion protein that includes the N-terminal region of ribosomal protein L36a (RPL36A) and the full-length heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2). This readthrough is subject to nonsense-mediated decay (NMD) under normal conditions but may escape NMD in certain contexts. The HNRNPH2 component is involved in RNA processing and splicing regulation, while RPL36A is a component of the 60S ribosomal subunit. The readthrough product may have altered function compared to the individual proteins.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• No specific pathway annotations for the readthrough product

The RPL36A-HNRNPH2 readthrough protein is a fusion of the N-terminal 13 amino acids of ribosomal protein L36a (RPL36A) and the full-length heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2). The HNRNPH2 portion contains three RNA recognition motifs (RRMs) and a KH domain, mediating binding to G-rich RNA sequences and involvement in pre-mRNA splicing and processing. The short RPL36A segment may affect localization or stability. The protein is predicted to localize to the nucleus and nucleolus, consistent with HNRNPH2 function.