BICD2 encodes BICD cargo adaptor 2 (824 aa). Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Highest expression in Skin Sun Exposed Lower leg (93.4 TPM) and Skin Not Sun Exposed Suprapubic (91.8 TPM).

Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant is associated with mutations in the BICD2 gene on chromosome 9.

BICD2 is classified as a druggable target (Kinase category) with score 0.0.

Genetic testing for BICD2 is available. Testing is considered confirmatory for diagnosis.

3 FDA-approved treatments are available for spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant, including NUSINERSEN (SPINRAZA, approved 2016), onasemnogene abeparvovec-xioi (Zolgensma, approved 2019), and RISDIPLAM (EVRYSDI, approved 2020).

Approved Therapies

Phenotype severity distribution: 2 always present features, 23 common features.

No clinical trials have been registered for spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant.

2 publications have been identified in PubMed for spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

• Lepri FR (2025). [PMID: 41249097](https://pubmed.ncbi.nlm.nih.gov/41249097/). *Prenatal diagnosis*. [Case Report / Case Series]

• Xiong GJ (2024). [PMID: 38568173](https://pubmed.ncbi.nlm.nih.gov/38568173/). *J Cell Biol*. [Review / Meta-Analysis]