BICDL2: BICD Family Like Cargo Adaptor 2
A gene encoding a protein involved in intracellular transport and microtubule dynamics.
Gene Information Card
| Symbol | BICDL2 |
|---|---|
| Full Name | BICD Family Like Cargo Adaptor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 100130894 ncbi.nlm.nih.gov/gene/100130894 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A0A1B0GTV4 |
| OMIM ID | 620291 |
| HGNC ID | 37267 |
| Aliases | C16orf87, bA16L21.1 |
Description
BICDL2 (BICD Family Like Cargo Adaptor 2) is a protein-coding gene located on chromosome 16p13.3. It encodes a protein that belongs to the BICD family of cargo adaptors, which are involved in dynein-mediated transport along microtubules. The protein is predicted to play a role in intracellular trafficking and cellular organization. Expression data suggest broad tissue distribution with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in BICDL2 disrupt dynein-mediated transport, leading to impaired neuronal migration and synaptic function | ClinVar: Pathogenic variants reported in multiple unrelated families |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Heart | 4.2 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Moderate expression |
| HeLa | 4.3 | Low expression |
| K562 | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Loss of function; predicted to cause premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated protein or nonsense-mediated decay, resulting in haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • dynein complex binding |
| • intracellular transport | • cytoplasmic dynein complex |
Pathways
• Dynein-mediated cargo transport
• Microtubule-based movement
Protein Summary
The BICDL2 protein is a predicted cargo adaptor for cytoplasmic dynein, facilitating the transport of vesicles and organelles along microtubules. It contains a coiled-coil domain typical of BICD family members. Structural modeling suggests it interacts with dynein and dynactin complexes. Loss of function leads to cellular trafficking defects, particularly in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BICDL2 Knockout HEK293 Cell Line | EDJ-KQ10479 | Human | 146439 | Details Get a Quote |
| BICDL2 Knockout HCT 116 Cell Line | EDJ-KQ37875 | Human | 146439 | Details Get a Quote |
