BICD2
BICD Cargo Adaptor 2
Gene Information Card
| Symbol | BICD2 |
|---|---|
| Full Name | BICD Cargo Adaptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.31 |
| NCBI Gene ID | 23299 ncbi.nlm.nih.gov/gene/23299 |
| Ensembl ID | ENSG00000185963 |
| UniProt ID | Q8TD16 |
| OMIM ID | 609797 |
| HGNC ID | 17208 |
| Aliases | BICD2, bicaudal D homolog 2, KIAA0699 |
Description
BICD2 encodes a protein that functions as an adaptor for the dynein-dynactin motor complex, facilitating retrograde transport of cargo along microtubules. It is essential for proper neuronal development and maintenance, particularly in motor neurons. Mutations in BICD2 cause autosomal dominant spinal muscular atrophy lower extremity predominant 2 (SMALED2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinal muscular atrophy lower extremity predominant 2 (SMALED2) | Dominant mutations impair dynein-mediated axonal transport, leading to motor neuron degeneration | ClinVar, OMIM |
| Arthrogryposis multiplex congenita (rare) | Disruption of motor neuron function and neuromuscular junction development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Spinal cord | 12.8 | Medium |
| Testis | 8.5 | Low |
| Heart | 6.1 | Low |
| Skeletal muscle | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.4 | High expression |
| HeLa | 9.2 | Moderate |
| HEK 293 | 7.5 | Moderate |
| HepG2 | 4.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.320C>T (p.Ser107Leu) | Missense | Rare | Dominant negative; disrupts dynein binding |
| c.2086G>A (p.Glu696Lys) | Missense | Rare | Gain of function; increased dynein recruitment |
| c.563A>G (p.Asn188Ser) | Missense | Rare | Loss of function; impaired cargo transport |
Mutation functional classification
Loss of Function (LOF)
Rare; some missense mutations reduce dynein binding and transport efficiency.
Gain of Function (GOF)
Reported; certain mutations (e.g., p.Glu696Lys) enhance dynein recruitment, causing toxicity.
Dominant Negative (DN)
Common mechanism; mutant BICD2 interferes with wild-type function, leading to SMALED2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Dynein-mediated cargo transport (Reactome: R-HSA-983189)
• Kinesin and dynein transport (KEGG: hsa04814)
• Axon guidance (KEGG: hsa04360)
Protein Summary
BICD2 is a 824-amino acid coiled-coil protein that links cargo vesicles to the dynein-dynactin motor complex. It contains an N-terminal dynein-binding domain and a C-terminal cargo-binding domain. The protein is highly expressed in neurons and is critical for retrograde axonal transport. Mutations in BICD2 predominantly cause autosomal dominant spinal muscular atrophy lower extremity predominant 2 (SMALED2) by disrupting motor neuron function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BICD2 Knockout HEK293 Cell Line | EDJ-KQ7953 | Human | 23299 | Details Get a Quote |
| BICD2 Knockout A-549 Cell Line | EDJ-KQ33628 | Human | 23299 | Details Get a Quote |
| BICD2 Knockout HCT 116 Cell Line | EDJ-KQ33629 | Human | 23299 | Details Get a Quote |
| BICD2 Knockout HeLa Cell Line | EDJ-KQ33630 | Human | 23299 | Details Get a Quote |
