Features include always present findings: Difficulty swallowing (dysphagia), Feeding difficulties, Limb muscle weakness, and Motor delay and others.

HNRNPA2B1 encodes heterogeneous nuclear ribonucleoprotein A2/B1 (353 aa). Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. Highest expression in Ovary (889.4 TPM) and Cells EBV-transformed lymphocytes (838.4 TPM).

Oculopharyngeal muscular dystrophy 2 is associated with mutations in the HNRNPA2B1 gene on chromosome 7.

The HNRNPA2B1 protein participates in Expression of Heterogeneous nuclear ribonucleoproteins A2/B1 and Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation pathways.

HNRNPA2B1 is classified as a druggable target (Clinically Actionable category) with score 10.4.

Genetic testing for HNRNPA2B1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for oculopharyngeal muscular dystrophy 2 has been reported in the published literature.

Phenotype severity distribution: 15 always present features.

No clinical trials have been registered for oculopharyngeal muscular dystrophy 2.

19 publications have been identified in PubMed for oculopharyngeal muscular dystrophy 2. Research spans Review / Meta-Analysis (21%), Case Report / Case Series (21%), and Epidemiology / Natural History (21%).