| Property |
Value |
| Gene Symbol |
CBLN2 |
| Full Name |
Cerebellin 2 |
| Chr Location |
18q22.1 |
| NCBI Gene ID |
147483 |
| OMIM ID |
614296 |
| Ensembl ID |
ENSG00000141690 |
| UniProt ID |
Q9NZU5 |
| Encoded Protein |
Cerebellin-2 |
| Associated Diseases |
Autism spectrum disorder, cerebellar ataxia, synaptic disorders |
CBLN2 (Cerebellin 2) encodes a member of the cerebellin family of secreted proteins. Located on chromosome 18q22.1, CBLN2 functions as a synaptogenic molecule but has distinct expression patterns and functions in both cerebellar and extra-cerebellar regions. It has been associated with autism spectrum disorder, cerebellar ataxia, and various synaptic disorders.
CBLN2 encodes cerebellin-2, a member of the cerebellin family of secreted proteins. Like CBLN1, CBLN2 functions as a synaptogenic molecule but has distinct expression patterns and functions in both cerebellar and extra-cerebellar regions.
Key normal physiological functions include:
- Synaptogenesis - Promotes excitatory synapse formation
- Cerebellar function - Contributes to cerebellar circuit development
- Neurexin binding - Interacts with presynaptic neurexins
- Receptor interactions - Binds to various glutamate receptors
- Synaptic plasticity - Modulates synaptic function
- Extra-cerebellar roles - Functions in cortex and hippocampus
The protein structure:
- Signal peptide - Secretory pathway
- Cerebellin domain - Conserved functional domain
- C-terminal region - Contains cysteine motifs
- CBLN2 variants associated with ASD
- Synaptic adhesion disrupted
- Social behavior affected
- Mutations cause cerebellar dysfunction
- Purkinje cell synapse loss
- Broad role in synaptic function
- Multiple neurological implications
CBLN2 has widespread expression:
- Highest expression: Cerebellum, cortex, hippocampus
- Moderate expression: Brainstem, thalamus
- Cellular localization: Secreted, extracellular space
- Cell types: Neurons, astrocytes
The Allen Brain Atlas shows high CBLN2 expression in:
- Cerebellar Purkinje cells
- Cerebral cortex (layers 2-6)
- Hippocampal pyramidal neurons
- Hirai et al., CBLN family function (2005)
- Wei et al., CBLN2 in synaptic function (2012)