CTTNBP2
Cortactin Binding Protein 2
Gene Information Card
| Symbol | CTTNBP2 |
|---|---|
| Full Name | Cortactin Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.31 |
| NCBI Gene ID | 83992 ncbi.nlm.nih.gov/gene/83992 |
| Ensembl ID | ENSG00000106070 |
| UniProt ID | Q8WZ74 |
| OMIM ID | 609772 |
| HGNC ID | 15679 |
| Aliases | CORTBP2, FLJ11273, MGC138499 |
Description
CTTNBP2 encodes cortactin binding protein 2, a scaffold protein that interacts with cortactin and regulates dendritic spine formation, synaptic plasticity, and neuronal migration. It is predominantly expressed in the brain and plays a critical role in cytoskeletal organization and synaptic function. Mutations in CTTNBP2 are associated with neurodevelopmental disorders including autism spectrum disorder and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Loss-of-function mutations impair dendritic spine density and synaptic transmission | PMID: 23352160 |
| Schizophrenia | Rare variants disrupt neuronal migration and synaptic signaling | PMID: 25056061 |
| Intellectual disability | Deleterious missense variants reduce protein stability and cortactin binding | PMID: 27616483 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 1.2 | Low |
| Lung | 0.8 | Low |
| Heart | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal model |
| U-87 MG | 2.1 | Glioblastoma |
| HEK293 | 0.9 | Low expression |
| HeLa | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1282C>T (p.Arg428*) | Nonsense | <0.1% | Loss of function, truncated protein |
| c.1670G>A (p.Arg557His) | Missense | <0.1% | Reduced cortactin binding |
| c.2155C>T (p.Arg719Trp) | Missense | <0.1% | Impaired dendritic spine morphogenesis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or unstable protein, reducing dendritic spine density.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants may interfere with wild-type protein function in synaptic scaffolding.
View complete mutation data：
Gene Ontology (GO)
| • dendritic spine morphogenesis | • synaptic signaling |
| • actin cytoskeleton organization | • protein binding |
| • neuron projection development |
Pathways
• Cortactin signaling
• Regulation of actin cytoskeleton
• Synaptic plasticity
Protein Summary
CTTNBP2 is a 1,641-amino acid protein containing multiple coiled-coil domains and a cortactin-binding region. It localizes to dendritic spines and the postsynaptic density, where it stabilizes actin filaments and regulates spine maturation. The protein is essential for proper neuronal connectivity and synaptic transmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTTNBP2 Knockout HEK293 Cell Line | EDJ-KQ9955 | Human | 83992 | Details Get a Quote |
| CTTNBP2NL Knockout HEK293 Cell Line | EDJ-KQ13052 | Human | 55917 | Details Get a Quote |
| CTTNBP2 Knockout HCT 116 Cell Line | EDJ-KQ36871 | Human | 83992 | Details Get a Quote |
| CTTNBP2NL Knockout A-549 Cell Line | EDJ-KQ42325 | Human | 55917 | Details Get a Quote |
| CTTNBP2NL Knockout HCT 116 Cell Line | EDJ-KQ42326 | Human | 55917 | Details Get a Quote |
| CTTNBP2NL Knockout HeLa Cell Line | EDJ-KQ42327 | Human | 55917 | Details Get a Quote |
| CTTNBP2 Knockout HeLa Cell Line | EDJ-KQ57517 | Human | 83992 | Details Get a Quote |
| CTTNBP2 Knockout A-549 Cell Line | EDJ-KQ66017 | Human | 83992 | Details Get a Quote |
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