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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CBLN4
cerebellin 4 precursor
Chromosome 20 · 20q13.2
NCBI Gene: 140689Ensembl: ENSG00000054803.4HGNC: HGNC:16231UniProt: Q9NTU7
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular matrixmaintenance of synapse structureinhibitory synapse assemblyGO:0005615type 2 diabetes mellitusAbnormality of the skeletal systemdiabetes mellitussubarachnoid hemorrhage
✦AI Summary

CBLN4 is a secreted synaptic organizer protein belonging to the C1q-TNF family that functions as a trans-synaptic signaling molecule. Structurally similar to cerebellin 1 (CBLN1) but with distinct binding properties, CBLN4 binds to neurexin-1β and acts as a DCC ligand in axon guidance 1. CBLN4 is essential for the formation and maintenance of inhibitory GABAergic synapses, particularly those made by somatostatin-positive interneurons, and its expression is controlled by the transcription factor Hes1 downstream of nerve growth factor signaling 2. The protein interacts with GluD1 glutamate receptors to organize synapses 3, with structural analyses revealing that neurexin binding occurs through the N-terminal region rather than the GluD2-binding site 4. Functionally, CBLN4 enhances GABAergic synaptic transmission and neuronal resistance to amyloid-β toxicity, suggesting neuroprotective properties relevant to neurodegeneration 2. In disease contexts, CBLN4 is downregulated in early Alzheimer's disease pathology 5 and serves as a biomarker for frontotemporal lobar degeneration with TDP pathology 6. CBLN4 expression also increases during temporomandibular joint disease progression 7.

Sources cited
1
CBLN4 is a bona fide DCC ligand that binds to the fibronectin domains 4-6 of DCC and is involved in axon guidance
PMID: 24400119
2
CBLN4 is essential for formation and maintenance of inhibitory GABAergic synapses, its expression is regulated by Hes1, and it provides neuroprotection against amyloid-β toxicity
PMID: 25534236
3
CBLN4 interacts with GluD1 to contribute to synapse organization, and variants disrupting this interaction perturb synapse organization
PMID: 37944084
4
CBLN4 binds to neurexin-1β and forms stable complexes through the N-terminal region, with structural differences from CBLN1 affecting receptor binding
PMID: 28877468
5
CBLN4 is downregulated in neurons surrounding layer II entorhinal cortex at the onset of Alzheimer's disease neuropathology and serves as an emerging AD biomarker
PMID: 39803521
6
CBLN4 is dysregulated in cerebrospinal fluid of frontotemporal lobar degeneration patients with TDP pathology and contributes to diagnostic biomarker panels
PMID: 41343108
7
CBLN4 protein expression continuously increases during progression from normal disc position to anterior disc displacement with osteoarthritis
PMID: 38251222
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.35Weak
Abnormality of the skeletal systemOpen Targets
0.33Weak
diabetes mellitusOpen Targets
0.30Weak
subarachnoid hemorrhageOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.27Weak
smoking initiationOpen Targets
0.27Weak
pituitary gland diseaseOpen Targets
0.22Weak
insomniaOpen Targets
0.22Weak
motion sicknessOpen Targets
0.20Weak
joint diseaseOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.20Weak
morbid obesityOpen Targets
0.20Weak
diabetic neuropathyOpen Targets
0.19Weak
Abnormal pupillary functionOpen Targets
0.16Weak
placenta praeviaOpen Targets
0.15Weak
epilepsyOpen Targets
0.12Weak
autismOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
COVID-19Open Targets
0.02Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CBLN3Shared pathway67%C1QL4Shared pathway67%CBLN2Shared pathway50%C1QL1Shared pathway40%C1QL3Shared pathway40%C1QL2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Ovary
36%
Liver
9%
Bone Marrow
2%
Lung
2%
Heart
0%
Gene Interaction Network
Click a node to explore
CBLN4CBLN3C1QL4CBLN2C1QL1C1QL3C1QL2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NTU7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.30Tolerant
Observed/Expected LoF0.42 [0.20–0.95]
RankingsWhere CBLN4 stands among ~20K protein-coding genes
  • #12,113of 20,598
    Most Researched29
  • #8,908of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedCBLN4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Defining the ligand specificity of the deleted in colorectal cancer (DCC) receptor.
PMID: 24400119
PLoS One · 2014
1.00
2
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
PMID: 37944084
Hum Mol Genet · 2024
0.90
3
Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration.
PMID: 41343108
Brain · 2025
0.80
4
Analysis of joint protein expression profile in anterior disc displacement of TMJ with or without OA.
PMID: 38251222
Oral Dis · 2024
0.70
5
The porcine cerebellin gene family.
PMID: 34274480
Gene · 2021
0.60