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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CNTN5
contactin 5
Chromosome 11 · 11q22.1
NCBI Gene: 53942Ensembl: ENSG00000149972.12HGNC: HGNC:2175UniProt: O94779
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell-cell adhesion mediator activityaxon guidancebrain developmentcell-cell adhesionmathematical abilitymajor depressive disorderinsomniasmoking initiation
✦AI Summary

CNTN5 (contactin 5) is a neural adhesion molecule belonging to the immunoglobulin superfamily that mediates cell-cell interactions during nervous system development 1. The gene maps to chromosome 11-q22.2 1 and exhibits region-specific expression patterns in the adult brain, with highest levels in the amygdala and occipital lobe 1. CNTN5 functions in synaptogenesis, synaptic maturation, and axon guidance, with particular involvement in the auditory pathway 2. The protein promotes neurite outgrowth in cerebral cortical neurons and modulates neuronal plasticity during critical developmental phases 3. CNTN5 has been implicated in neurodevelopmental disorders, particularly autism spectrum disorder (ASD). Neurons deficient for CNTN5 demonstrate consistent spontaneous network hyperactivity, suggesting a role in synaptic dysfunction 4. CNTN5 variants have been identified in ASD patients, and elevated CNTN5 expression is observed in Parkinson's disease-related dopaminergic neuropathy 5. A female-specific genetic variant in CNTN5 (rs10736549) is associated with neuroticism and mood disorders 6. While CNTN5 appears relevant to neuropsychiatric conditions, a recent association study in a Japanese population found limited evidence for rare CNTN5 variants as major contributors to ASD susceptibility 2. CNTN5 remains a candidate gene for neurodevelopmental disorders requiring further investigation 78.

Sources cited
1
CNTN5 gene mapping to chromosome 11q21-q22.2 and region-specific expression pattern in adult brain with highest levels in amygdala and occipital lobe
PMID: 11013081
2
CNTN5 involvement in synaptogenesis and synaptic maturation in the auditory pathway, association with ASD and hyperacusis
PMID: 39887962
3
CNTN5 modulates neurite outgrowth, synaptogenesis, and neuronal plasticity during critical developmental phases; implicated in autism pathogenesis
PMID: 23872404
4
CNTN5-deficient neurons show consistent spontaneous network hyperactivity relevant to ASD pathology
PMID: 30747104
5
Increased CNTN5 expression in Parkinson's disease-related dopaminergic neurodegeneration
PMID: 39088390
6
Female-specific CNTN5 variant (rs10736549) associated with neuroticism and mood disorders
PMID: 36244801
7
CNTN5 identified as candidate gene in neurodevelopmental disorder screening
PMID: 28600779
8
CNTN5 alterations identified in neurodevelopmental disorder patients via genomic analysis
PMID: 38674362
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.38Weak
major depressive disorderOpen Targets
0.37Weak
insomniaOpen Targets
0.35Weak
smoking initiationOpen Targets
0.34Weak
injuryOpen Targets
0.34Weak
inborn disorder of amino acid metabolismOpen Targets
0.32Weak
circadian rhythm sleep disorderOpen Targets
0.30Weak
multinodular goiterOpen Targets
0.29Weak
anxiety disorderOpen Targets
0.28Weak
Abnormality of limbsOpen Targets
0.28Weak
cholelithiasisOpen Targets
0.28Weak
corneal dystrophyOpen Targets
0.28Weak
hemangiomaOpen Targets
0.28Weak
nephrotic syndromeOpen Targets
0.28Weak
Raynaud diseaseOpen Targets
0.28Weak
respiratory tract infectious disorderOpen Targets
0.28Weak
ulcerative colitisOpen Targets
0.28Weak
skeletal system diseaseOpen Targets
0.28Weak
pyogenic granulomaOpen Targets
0.27Weak
obesityOpen Targets
0.25Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APLP1Protein interaction93%CD177Protein interaction91%CNTNAP4Protein interaction89%NRCAMProtein interaction65%NFASCShared pathway50%PLEKHG4BShared pathway40%
Tissue Expression6 tissues
Brain
100%
Heart
5%
Lung
2%
Bone Marrow
2%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
CNTN5APLP1CD177CNTNAP4NRCAMNFASCPLEKHG4B
PROTEIN STRUCTURE
Preparing viewer…
PDB4N68 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.48–0.73]
RankingsWhere CNTN5 stands among ~20K protein-coding genes
  • #12,534of 20,598
    Most Researched27
  • #5,684of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedCNTN5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
Human NB-2 of the contactin subgroup molecules: chromosomal localization of the gene (CNTN5) and distinct expression pattern from other subgroup members.
PMID: 11013081
Genomics · 2000
0.90
3
Loss of primary cilia and dopaminergic neuroprotection in pathogenic LRRK2-driven and idiopathic Parkinson's disease.
PMID: 39088390
Proc Natl Acad Sci U S A · 2024
0.80
4
Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.
PMID: 38674362
Genes (Basel) · 2024
0.70
5
Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population.
PMID: 39887962
Neuropsychopharmacol Rep · 2025
0.60