CBLN4
Cerebellin 4 precursor
Gene Information Card
| Symbol | CBLN4 |
|---|---|
| Full Name | cerebellin 4 precursor |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 140689 ncbi.nlm.nih.gov/gene/140689 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | Q9NTU7 |
| OMIM ID | 608626 |
| HGNC ID | 1542 |
| Aliases | CBLNL, UNQ1939/PRO4421 |
Description
CBLN4 (cerebellin 4 precursor) is a protein-coding gene located on chromosome 20q11.22. It belongs to the cerebellin family of secreted proteins, which are involved in synaptic organization and neuronal development. CBLN4 is predominantly expressed in the brain and plays a role in forming and maintaining synapses, particularly in the cerebellum and hippocampus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered CBLN4 expression may disrupt synaptic connectivity in the prefrontal cortex, contributing to cognitive deficits. | ClinVar, NCBI Gene |
| Autism spectrum disorder | CBLN4 variants have been associated with synaptic dysfunction and altered neuronal connectivity. | ClinVar, OMIM |
| Bipolar disorder | Differential expression of CBLN4 in postmortem brain tissue suggests involvement in mood regulation pathways. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.3 | Medium |
| Cerebral cortex | 8.7 | Low |
| Hippocampus | 9.1 | Low |
| Testis | 1.2 | Not detected |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 5.4 | Neuroblastoma cell line |
| U-87 MG | 3.2 | Glioblastoma cell line |
| HEK293 | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Unknown functional effect |
| c.389G>A (p.Arg130His) | Missense | <0.01% | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CBLN4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CBLN4.
Dominant Negative (DN)
No dominant-negative mutations reported in CBLN4.
View complete mutation data：
Gene Ontology (GO)
| • synaptic organization | • cell adhesion |
| • protein homodimerization activity | • extracellular region |
Pathways
• Cerebellin signaling pathway
• Synaptic adhesion-like molecules
Protein Summary
CBLN4 encodes a secreted protein of the cerebellin family. The precursor protein is cleaved to produce the active cerebellin-4 peptide, which forms homotrimers and interacts with neurexins and other synaptic proteins to regulate synapse formation and plasticity. It is highly expressed in the cerebellum and hippocampus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBLN4 Knockout HEK293 Cell Line | EDJ-KQ9793 | Human | 140689 | Details Get a Quote |
| CBLN4 Knockout HeLa Cell Line | EDJ-KQ58448 | Human | 140689 | Details Get a Quote |
| CBLN4 Knockout A-549 Cell Line | EDJ-KQ66934 | Human | 140689 | Details Get a Quote |
| CBLN4 Knockout HCT 116 Cell Line | EDJ-KQ75336 | Human | 140689 | Details Get a Quote |
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