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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CBLN2
cerebellin 2 precursor
Chromosome 18 · 18q22.3
NCBI Gene: 147381Ensembl: ENSG00000141668.11HGNC: HGNC:1544UniProt: Q8IUK8
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor regulator activitytrans-synaptic signaling by trans-synaptic complex, modulating synaptic transmissionsynapsetrans-synaptic signaling, modulating synaptic transmissionovarian neoplasmpulmonary arterial hypertensionsmoking initiationschizophrenia
✦AI Summary

CBLN2 (cerebellin 2 precursor) functions as a synaptic organizer that plays critical roles in neuronal circuit formation and pathological processes. The protein acts as a trans-synaptic bridging molecule, binding to postsynaptic GRID1/GRID2 receptors and presynaptic neurexins to organize excitatory synapses 1. CBLN2 shows functional redundancy with CBLN1 in the cerebellum, where both proteins can rescue synaptic deficits through common receptor binding properties 2. Beyond synaptic organization, CBLN2-expressing neurons form distinct circuit modules: in the spinal trigeminal nucleus, they coordinate repetitive self-grooming behaviors through brain-to-spinal pathways 3, while in the posterior hypothalamic nucleus, they regulate panic-like defensive states 4. CBLN2 has significant disease relevance, being upregulated in pulmonary hypertension where it promotes pathological endothelial-mesenchymal transition via NF-κB/HIF-1α/Twist1 signaling 5. In neuropathic pain, SOX11-mediated CBLN2 upregulation drives neuroinflammation through NF-κB activation 6. Additionally, CBLN2 marks tau-vulnerable neurons in Alzheimer's disease 7 and shows human-specific developmental regulation in prefrontal cortex spinogenesis 8, suggesting evolutionary adaptations in higher-order cognition.

Sources cited
1
CBLN2 acts as trans-synaptic bridging molecule binding to GRID receptors and neurexins
PMID: 37944084
2
CBLN2 shows functional redundancy with CBLN1 in cerebellum through common receptor binding
PMID: 22117778
3
CBLN2+ neurons in spinal trigeminal nucleus coordinate repetitive self-grooming behaviors
PMID: 34932943
4
CBLN2+ neurons in posterior hypothalamus regulate panic-like defensive states
PMID: 40595505
5
CBLN2 promotes endothelial-mesenchymal transition in pulmonary hypertension via NF-κB/HIF-1α/Twist1 pathway
PMID: 37355224
6
SOX11-mediated CBLN2 upregulation drives neuropathic pain through NF-κB neuroinflammation
PMID: 41162740
7
CBLN2 marks tau-vulnerable neuronal population in Alzheimer's disease
PMID: 40448997
8
Human-specific CBLN2 regulation promotes prefrontal cortex spinogenesis during development
PMID: 34599306
Disease Associationsⓘ20
ovarian neoplasmOpen Targets
0.31Weak
pulmonary arterial hypertensionOpen Targets
0.29Weak
smoking initiationOpen Targets
0.25Weak
schizophreniaOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.24Weak
acute tonsillitisOpen Targets
0.24Weak
pneumonitisOpen Targets
0.24Weak
infectious arthritisOpen Targets
0.21Weak
HypervolemiaOpen Targets
0.21Weak
sweat gland diseaseOpen Targets
0.20Weak
respiratory system diseaseOpen Targets
0.20Weak
cervical carcinomaOpen Targets
0.20Weak
Urethral strictureOpen Targets
0.20Weak
type 1 diabetes mellitusOpen Targets
0.19Weak
bipolar disorderOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.19Weak
blood coagulation diseaseOpen Targets
0.16Weak
central nervous system cancerOpen Targets
0.04Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRID2Protein interaction76%CBLN3Shared pathway67%C1QL4Shared pathway67%CBLN4Shared pathway50%C1QL1Shared pathway40%C1QL3Shared pathway40%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Liver
1%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
CBLN2GRID2CBLN3C1QL4CBLN4C1QL1C1QL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IUK8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.03Tolerant
Observed/Expected LoF0.60 [0.34–1.12]
RankingsWhere CBLN2 stands among ~20K protein-coding genes
  • #15,816of 20,598
    Most Researched14
  • #11,516of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedCBLN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A brain-to-spinal sensorimotor loop for repetitive self-grooming.
PMID: 34932943
Neuron · 2022
1.00
2
A molecularly defined brain circuit module for regulating panic-like defensive state.
PMID: 40595505
Nat Commun · 2025
0.90
3
Cerebellin-2 promotes endothelial-mesenchymal transition in hypoxic pulmonary hypertension rats by activating NF-κB/HIF-1α/Twist1 pathway.
PMID: 37355224
Life Sci · 2023
0.80
4
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
PMID: 37944084
Hum Mol Genet · 2024
0.70
5
Cell-death pathways and tau-associated neuronal vulnerability in Alzheimer's disease.
PMID: 40448997
Cell Rep · 2025
0.60