CBLN3 (Cerebellin 3 Precursor)
A member of the cerebellin family involved in synaptic organization and cerebellar function.
Gene Information Card
| Symbol | CBLN3 |
|---|---|
| Full Name | Cerebellin 3 Precursor |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 643866 ncbi.nlm.nih.gov/gene/643866 |
| Ensembl ID | ENSG00000197976 |
| UniProt ID | Q6UW01 |
| OMIM ID | 611900 |
| HGNC ID | 33618 |
| Aliases | CBLN3, cerebellin 3 |
Description
CBLN3 encodes cerebellin 3, a secreted protein belonging to the C1q/tumor necrosis factor superfamily. It is predominantly expressed in the cerebellum and plays a role in synapse formation and maintenance, particularly in the central nervous system. CBLN3 forms heteromeric complexes with other cerebellins (e.g., CBLN1) to regulate synaptic organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebellar ataxia | Potential role in synaptic dysfunction; reduced CBLN3 expression may impair cerebellar circuitry | Limited; inferred from functional studies and expression patterns |
| Schizophrenia | Altered CBLN3 expression in prefrontal cortex may contribute to synaptic pathology | Case-control studies; differential expression reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Cerebral cortex | 3.2 | Low |
| Testis | 1.8 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.1 | Low expression |
| U-87 MG (glioblastoma) | 1.0 | Very low |
| HEK 293 (embryonic kidney) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.325G>A (p.Val109Ile) | Missense | <0.01% | Unknown functional impact; rare population variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CBLN3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CBLN3.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in CBLN3.
View complete mutation data：
Gene Ontology (GO)
| • synapse organization | • cell adhesion |
| • protein homodimerization activity | • extracellular region |
Pathways
• Cerebellin signaling in synapse formation
• C1q/TNF superfamily signaling
Protein Summary
Cerebellin 3 precursor is a secreted protein of 258 amino acids (UniProt Q6UW01). It contains a C1q domain and is involved in synaptic adhesion and organization. CBLN3 forms heteromeric complexes with CBLN1 and is essential for proper cerebellar synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBLN3 Knockout HEK293 Cell Line | EDJ-KQ12745 | Human | 643866 | Details Get a Quote |
| CBLN3 Knockout HCT 116 Cell Line | EDJ-KQ40585 | Human | 643866 | Details Get a Quote |
| CBLN3 Knockout A-549 Cell Line | EDJ-KQ41847 | Human | 643866 | Details Get a Quote |
| CBLN3 Knockout HeLa Cell Line | EDJ-KQ41849 | Human | 643866 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
