CBLN2
Cerebellin 2 Precursor
Gene Information Card
| Symbol | CBLN2 |
|---|---|
| Full Name | cerebellin 2 precursor |
| Gene Type | protein-coding |
| Chromosomal Location | 18q22.3 |
| NCBI Gene ID | 147381 ncbi.nlm.nih.gov/gene/147381 |
| Ensembl ID | ENSG00000141668 |
| UniProt ID | Q8IUK8 |
| OMIM ID | 614611 |
| HGNC ID | 24287 |
| Aliases | cerebellin 2, CBLN2 |
Description
CBLN2 encodes cerebellin 2, a secreted protein belonging to the C1q/tumor necrosis factor superfamily. It is predominantly expressed in the cerebellum and plays a critical role in synapse formation, maintenance, and plasticity, particularly at parallel fiber-Purkinje cell synapses. CBLN2 forms complexes with neurexins and glutamate receptors to regulate synaptic adhesion and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic adhesion due to CBLN2 variants affecting neurexin binding | ClinVar, PMID: 25621899 |
| Schizophrenia | Dysregulation of CBLN2 expression in prefrontal cortex | PMID: 22500640 |
| Cerebellar ataxia | Loss of CBLN2 function disrupts parallel fiber-Purkinje cell synapse stability | PMID: 20631176 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 23.4 | High |
| Cerebral cortex | 1.2 | Low |
| Testis | 0.8 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.5 | Low expression |
| U-87 MG | 0.2 | Not detected |
| HEK293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Cys) | Missense | <0.01% | Impaired secretion and neurexin binding |
| c.389G>A (p.Arg130His) | Missense | <0.01% | Reduced synaptic localization |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg76Cys) impair secretion and binding to neurexins, leading to reduced synapse formation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • synapse assembly (GO:0007416) | • cell adhesion (GO:0007155) |
| • extracellular region (GO:0005576) | • protein binding (GO:0005515) |
Pathways
• Neurexin-neuroligin signaling pathway
• C1q family signaling
Protein Summary
Cerebellin 2 is a 193-amino acid secreted protein with a C1q domain. It forms homotrimers and heterotrimers with other cerebellins. It binds to neurexins (NRXN1, NRXN2, NRXN3) and mediates trans-synaptic adhesion, promoting synapse formation and plasticity in the cerebellum. CBLN2 is essential for motor coordination and learning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBLN2 Knockout HEK293 Cell Line | EDJ-KQ9889 | Human | 147381 | Details Get a Quote |
| CBLN2 Knockout HeLa Cell Line | EDJ-KQ38074 | Human | 147381 | Details Get a Quote |
| CBLN2 Knockout A-549 Cell Line | EDJ-KQ67062 | Human | 147381 | Details Get a Quote |
| CBLN2 Knockout HCT 116 Cell Line | EDJ-KQ75463 | Human | 147381 | Details Get a Quote |
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