Gene
cdh2
- ID
- ZDB-GENE-990415-171
- Name
- cadherin 2, type 1, N-cadherin (neuronal)
- Symbol
- cdh2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable beta-catenin binding activity; cadherin binding activity; and calcium ion binding activity. Involved in cell-cell adhesion and neural tube formation. Acts upstream of or within several processes, including axial mesoderm structural organization; embryonic morphogenesis; and nervous system development. Located in cell-cell junction; perinuclear region of cytoplasm; and presynaptic membrane. Part of catenin complex. Is expressed in several structures, including germ ring; immature eye; mesoderm; nervous system; and pericardial region. Human ortholog(s) of this gene implicated in agenesis of corpus callosum, cardiac, ocular, and genital syndrome; arrhythmogenic right ventricular cardiomyopathy; and arrhythmogenic right ventricular dysplasia 14. Orthologous to human CDH2 (cadherin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 61 figures from 40 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 93 figures from 32 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Alliance | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 618929 |
| arrhythmogenic right ventricular dysplasia 14 | Alliance | Arrhythmogenic right ventricular dysplasia 14 | 618920 |
| ?Attention deficit-hyperactivity disorder 8 | 619957 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020894 | Cadherin conserved site |
| Domain | IPR000233 | Cadherin, Y-type LIR-motif |
| Domain | IPR002126 | Cadherin-like |
| Domain | IPR014868 | Cadherin prodomain |
| Family | IPR039808 | Cadherin |
| Homologous_superfamily | IPR015919 | Cadherin-like superfamily |
| Homologous_superfamily | IPR027397 | Catenin binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Cadherin | Cadherin conserved site | Cadherin-like | Cadherin-like superfamily | Cadherin prodomain | Cadherin, Y-type LIR-motif | Catenin binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q90275 | InterPro | 893 | |||||||
| UniProtKB:Q1L8K3 | InterPro | 893 |
Interactions and Pathways
No data available
Plasmids