HNRNPH2

HNRNPH2 encodes heterogeneous nuclear ribonucleoprotein H2, a key member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. Common aliases include HNRPH2 and H2. It interacts with pre-mRNA and other RNA species to regulate alternative splicing, RNA stability, and intracellular transport, thereby controlling post-transcriptional gene expression.
Pathogenic mutations in HNRNPH2 are linked to X-linked intellectual disability (XLID), characterized by cognitive deficits and developmental delays. Drug development remains early: preclinical studies explore small molecules targeting aberrant RNA splicing caused by its dysfunction, though no approved therapeutics exist currently.