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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CBLN3
cerebellin 3 precursor
Chromosome 14 · 14q12
NCBI Gene: 643866Ensembl: ENSG00000139899.12HGNC: HGNC:20146UniProt: Q6UW01
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
trans-synaptic signaling, modulating synaptic transmissionmaintenance of synapse structureGO:0005615synaptic cleftpolycystic ovary syndromedeafnessautosomal recessive nonsyndromic hearing loss 9autosomal dominant nonsyndromic hearing loss
✦AI Summary

CBLN3 (cerebellin 3 precursor) is a synaptic regulatory protein belonging to the cerebellin family of C1q proteins. CBLN3 is predominantly expressed in the cerebellum 1 and functions as a transneuronal regulator of synaptic integrity. Unlike CBLN1, CBLN3 is not secreted when expressed alone but is retained in the endoplasmic reticulum; however, it can be secreted when forming heteromeric complexes with other cerebellin family members, particularly CBLN1 2. This heteromerization may modulate trafficking and signaling pathways critical for synaptic function. CBLN3 serves as a marker of cerebellar Purkinje cell health, with expression levels significantly correlated with other Purkinje cell biomarkers (PCP2, PCP4) and reduced in Alzheimer's disease patients 3. The protein is involved in synaptic maintenance and trans-synaptic signaling. Disease relevance includes potential involvement in neurodegenerative conditions; CBLN3 was identified as a candidate biomarker in progressive supranuclear palsy cerebrospinal fluid 4 and has been implicated in hearing loss with vestibular abnormalities 5. Additionally, CBLN3 expression is altered during chr14 parasitic infection of the central nervous system 6. CBLN3 represents an important component of cerebellar synaptic architecture with potential clinical significance for diagnosing neurodegenerative and neurological disorders.

Sources cited
1
CBLN3 is predominantly expressed in the cerebellum and encodes a 205 amino acid protein with conserved structure including C1q domain
PMID: 34274480
2
CBLN3 is not secreted when expressed alone but can be secreted through heteromeric complex formation with CBLN1, modulating trafficking and signaling pathways
PMID: 17331201
3
CBLN3 expression is significantly reduced in Alzheimer's disease patients and correlates with other Purkinje cell markers
PMID: 33057964
4
CBLN3 was identified as a candidate biomarker in progressive supranuclear palsy cerebrospinal fluid analysis
PMID: 39342078
5
CBLN3 is a candidate gene associated with hearing loss and temporal bone anomalies including enlarged vestibular aqueducts
PMID: 33924653
6
CBLN3 expression is significantly down-regulated in mouse brain during chronic Toxoplasma gondii infection
PMID: 32544399
Disease Associationsⓘ20
polycystic ovary syndromeOpen Targets
0.07Suggestive
deafnessOpen Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
supranuclear palsy, progressive, 1Open Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
liver hemangiomaOpen Targets
0.00Suggestive
hearing lossOpen Targets
0.00Suggestive
neonatal diabetes mellitus with congenital hypothyroidismOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C1QL4Shared pathway100%GRID2Protein interaction88%GABRA6Protein interaction76%CBLN2Shared pathway67%CBLN4Shared pathway67%C1QL1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
36%
Liver
30%
Heart
21%
Brain
14%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
CBLN3C1QL4GRID2GABRA6CBLN2CBLN4C1QL1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6UW01
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.54–1.27]
RankingsWhere CBLN3 stands among ~20K protein-coding genes
  • #18,037of 20,598
    Most Researched6
  • #13,409of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedCBLN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The porcine cerebellin gene family.
PMID: 34274480
Gene · 2021
1.00
2
Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction.
PMID: 31043676
Sci Rep · 2019
0.90
3
Biomarker discovery in progressive supranuclear palsy from human cerebrospinal fluid.
PMID: 39342078
Clin Proteomics · 2024
0.80
4
GNG13 Is a Potential Marker of the State of Health of Alzheimer's Disease Patients' Cerebellum.
PMID: 33057964
J Mol Neurosci · 2021
0.70
5
Characterization of a transneuronal cytokine family Cbln--regulation of secretion by heteromeric assembly.
PMID: 17331201
Eur J Neurosci · 2007
0.60