CNTN5: Contactin 5 Gene
A neural cell adhesion molecule involved in neurodevelopmental disorders and synaptic organization
Gene Information Card
| Symbol | CNTN5 |
|---|---|
| Full Name | Contactin 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q22.1 |
| NCBI Gene ID | 53942 ncbi.nlm.nih.gov/gene/53942 |
| Ensembl ID | ENSG00000149273 |
| UniProt ID | O94779 |
| OMIM ID | 607219 |
| HGNC ID | 2171 |
| Aliases | NB-2, hNB-2 |
Description
CNTN5 encodes contactin 5, a member of the contactin family of glycosylphosphatidylinositol (GPI)-anchored neural cell adhesion molecules. It is predominantly expressed in the nervous system and plays a critical role in neuronal cell adhesion, axon guidance, and synaptic organization. CNTN5 is involved in the formation and maintenance of neural circuits and has been implicated in neurodevelopmental disorders including autism spectrum disorder and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic adhesion and neuronal connectivity due to CNTN5 variants | ClinVar, OMIM |
| Schizophrenia | Disruption of neural circuit formation and synaptic plasticity | ClinVar, literature |
| Intellectual disability | Impaired axon guidance and neuronal migration | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 18.7 | High |
| Testis | 1.2 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.3 | Neuronal model |
| U-87 MG (glioblastoma) | 3.1 | Glial origin |
| HEK293 (embryonic kidney) | 0.2 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein, associated with neurodevelopmental disorders.
Gain of Function (GOF)
Not reported in CNTN5.
Dominant Negative (DN)
Not reported in CNTN5.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • axon guidance (GO:0007411) |
| • plasma membrane (GO:0005886) | • cell junction (GO:0030054) |
| • synapse (GO:0045202) |
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Neural cell adhesion molecule signaling – Reactome R-HSA-375276
Protein Summary
Contactin 5 is a GPI-anchored cell surface glycoprotein of 1,100 amino acids, containing six immunoglobulin-like domains and four fibronectin type III repeats. It mediates homophilic and heterophilic cell adhesion, promoting neurite outgrowth and synaptic organization. The protein is predominantly expressed in the brain, especially in the cerebellum and cerebral cortex, and is essential for proper neural circuit formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNTN5 Knockout HEK293 Cell Line | EDJ-KQ11373 | Human | 53942 | Details Get a Quote |
| CNTN5 Knockout HeLa Cell Line | EDJ-KQ56390 | Human | 53942 | Details Get a Quote |
| CNTN5 Knockout A-549 Cell Line | EDJ-KQ64883 | Human | 53942 | Details Get a Quote |
| CNTN5 Knockout HCT 116 Cell Line | EDJ-KQ73326 | Human | 53942 | Details Get a Quote |
