CTNND2 (Catenin Delta 2)
Delta-catenin, a neuronal adherens junction protein implicated in brain development and cancer
Gene Information Card
| Symbol | CTNND2 |
|---|---|
| Full Name | Catenin Delta 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.2 |
| NCBI Gene ID | 1501 ncbi.nlm.nih.gov/gene/1501 |
| Ensembl ID | ENSG00000169862 |
| UniProt ID | Q9UQB3 |
| OMIM ID | 604275 |
| HGNC ID | 2516 |
| Aliases | NPRAP, delta-catenin, neurojungin |
Description
CTNND2 encodes delta-catenin, a member of the armadillo/plakoglobin family. It is predominantly expressed in the nervous system and localizes to adherens junctions, where it interacts with cadherins and regulates synaptic structure and function. Delta-catenin is involved in neuronal migration, dendrite formation, and synaptic plasticity. Loss-of-function mutations are associated with intellectual disability and autism spectrum disorder. Altered expression is also observed in various cancers, including lung, breast, and prostate, where it may influence cell adhesion and invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 70 | Loss-of-function mutations in CTNND2 disrupt neuronal adhesion and synaptic signaling | OMIM #618271 |
| Autism spectrum disorder | Rare CNVs and missense variants affecting delta-catenin function | ClinVar, PMID: 25217958 |
| Lung cancer | Delta-catenin overexpression promotes cell migration and invasion | COSMIC, PMID: 23382219 |
| Breast cancer | Reduced delta-catenin expression correlates with poor prognosis | PMID: 21947058 |
| Prostate cancer | Delta-catenin loss linked to increased metastatic potential | PMID: 20010872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 32.5 | High |
| Testis | 6.8 | Medium |
| Lung | 2.1 | Low |
| Breast | 1.5 | Low |
| Prostate | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 28.3 | Neuronal model |
| A549 (lung carcinoma) | 4.5 | Lung cancer line |
| MCF7 (breast carcinoma) | 2.0 | Breast cancer line |
| PC3 (prostate carcinoma) | 1.8 | Prostate cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.1240G>A (p.Gly414Arg) | Missense | Rare | Impaired binding to cadherins; autism spectrum disorder |
| c.1685_1686del (p.Glu562fs) | Frameshift | Rare | Loss of function; intellectual disability |
| Amplification | Copy number gain | 1-2% in lung adenocarcinoma | Overexpression; potential oncogenic effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg76*, p.Glu562fs) lead to truncated or absent delta-catenin, disrupting neuronal adhesion and causing neurodevelopmental disorders.
Gain of Function (GOF)
Amplification and overexpression in lung cancer may enhance cell migration and invasion, suggesting a potential oncogenic role.
Dominant Negative (DN)
Missense variants (e.g., p.Gly414Arg) may interfere with wild-type delta-catenin function by disrupting cadherin binding, though dominant-negative effects are not fully established.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • synaptic signaling |
| • cadherin binding | • protein homodimerization activity |
| • neuron projection development |
Pathways
• Cadherin signaling pathway
• Wnt signaling pathway
• Adherens junction
Protein Summary
Delta-catenin is a 1225-amino-acid protein containing 10 armadillo repeats. It binds to the juxtamembrane domain of classical cadherins and links them to the actin cytoskeleton. In neurons, it regulates dendritic spine morphogenesis and synaptic plasticity. The protein is also involved in intracellular signaling, including modulation of Rho GTPases and transcription factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTNND2 Knockout HEK293 Cell Line | EDJ-KQ290 | Human | 1501 | Details Get a Quote |
| CTNND2 Knockout HeLa Cell Line | EDJ-KQ53025 | Human | 1501 | Details Get a Quote |
| CTNND2 Knockout A-549 Cell Line | EDJ-KQ61489 | Human | 1501 | Details Get a Quote |
| CTNND2 Knockout HCT 116 Cell Line | EDJ-KQ69984 | Human | 1501 | Details Get a Quote |
