BICD2 is involved in cellular processes relevant to neurodegeneration.
| Gene Symbol | BICD2 |
|---|---|
| Full Name | BICD cargo adaptor 2 |
| Chromosomal Location | Chr9q22.31 |
| NCBI Gene ID | [23212](https://www.ncbi.nlm.nih.gov/gene/23212) |
| OMIM | [609797](https://www.omim.org/entry/609797) |
| Ensembl ID | ENSG00000176177 |
| UniProt ID | [Q8TDW0](https://www.uniprot.org/uniprot/Q8TDW0) |
| Associated Diseases | [ALS](/diseases/als), [Spinal Muscular Atrophy](/diseases/spinal-muscular-atrophy) |
BICD2 (BICD cargo adaptor 2) is a member of the BICD family of proteins that function as adaptors linking dynein-dynactin motor complexes to cargo vesicles. BICD2 plays a critical role in intracellular transport by facilitating the movement of vesicles and organelles along microtubules. It directly binds to dynein light chain and dynactin, forming a motor complex that powers retrograde transport from the cell periphery toward the nucleus[1].
In neurons, BICD2 is essential for the transport of various cargoes including:
The protein contains multiple coiled-coil domains that mediate protein-protein interactions, and a C-terminal cargo-binding domain that recognizes specific vesicle receptors[2].
BICD2 mutations have been identified in patients with ALS and related motor neuron diseases. Pathogenic variants lead to:
BICD2 is genetically linked to SMA phenotypes. Mutations affecting its dynein-binding capacity disrupt:
BICD2 variants have been associated with autosomal dominant HSP, characterized by progressive lower limb spasticity due to corticospinal tract degeneration[5].
BICD2 is expressed throughout the nervous system with high expression in:
Expression is particularly high during development and maintained at moderate levels in adult tissue[6].
Grens et al. BICD family proteins in intracellular transport. Experimental Cell Research. 2000. ↩︎
Rocha et al. BICD2 mutations in spinal muscular atrophy. Brain. 2014. ↩︎
Martinez et al. BICD2 mutations in ALS and SMA. Nature. 2013. ↩︎
Harms et al. Dynein-dynactin complex dysfunction in BICD2-related disease. Neuron. 2014. ↩︎
Neuser et al. BICD2 and axonal transport. Human Genetics. 2020. ↩︎
Liu et al. BICD2 in neuronal development. Developmental Neurobiology. 2018. ↩︎