CDH2
CDH2 (Cadherin 2) is a Protein Coding gene. Diseases associated with CDH2 include Arrhythmogenic Right Ventricular Cardiomyopathy and Malignant Pleural Mesothelioma. Among its related pathways are N-cadherin signaling events and PAK Pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein phosphatase binding. An important paralog of this gene is CDH4.
Function
Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Cadherins may thus contribute to the sorting of heterogeneous cell types. Acts as a regulator of neural stem cells quiescence by mediating anchorage of neural stem cells to ependymocytes in the adult subependymal zone: upon cleavage by MMP24, CDH2-mediated anchorage is affected, leading to modulate neural stem cell quiescence. Plays a role in cell-to-cell junction formation between pancreatic beta cells and neural crest stem (NCS) cells, promoting the formation of processes by NCS cells (By similarity).
CDH2 may be involved in neuronal recognition mechanism. In hippocampal neurons, may regulate dendritic spine density.
Biological Process
Adherens junction organization Source: Reactome
Blood vessel morphogenesis Source: GO_Central
Brain development Source: GO_Central
Brain morphogenesis Source: Ensembl
Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules Source: Ensembl
Cell adhesion Source: ProtInc
Cell-cell adhesion Source: UniProtKB
Cell-cell adhesion mediated by cadherin Source: UniProtKB
Cell-cell adhesion via plasma-membrane adhesion molecules Source: GO_Central
Cell-cell junction assembly Source: UniProtKB
Cellular protein metabolic process Source: Reactome
Cerebral cortex development Source: Ensembl
Detection of muscle stretch Source: BHF-UCL
Glial cell differentiation Source: UniProtKB
Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules Source: Ensembl
Homeostasis of number of cells Source: Ensembl
Homophilic cell adhesion via plasma membrane adhesion molecules Source: GO_Central
Mesenchymal cell migration Source: Ensembl
Negative regulation of canonical Wnt signaling pathway Source: Ensembl
Neural crest cell development Source: UniProtKB
Neuroepithelial cell differentiation Source: Ensembl
Neuroligin clustering involved in postsynaptic membrane assembly Source: Ensembl
Neuronal stem cell population maintenance Source: UniProtKB
Positive regulation of MAPK cascade Source: Ensembl
Positive regulation of muscle cell differentiation Source: Reactome
Positive regulation of synaptic vesicle clustering Source: Ensembl
Post-translational protein modification Source: Reactome
Protein localization to plasma membrane Source: Ensembl
Radial glial cell differentiation Source: Ensembl
Regulation of axonogenesis Source: GO_Central
Regulation of oligodendrocyte progenitor proliferation Source: Ensembl
Regulation of postsynaptic density protein 95 clustering Source: Ensembl
Regulation of synaptic transmission, glutamatergic Source: GO_Central
Striated muscle cell differentiation Source: Ensembl
Synapse assembly Source: GO_Central
Type B pancreatic cell development Source: UniProtKB
Cellular Location
Cell membrane; Sarcolemma; Cell junction; Cell surface. Colocalizes with TMEM65 at the intercalated disk in cardiomyocytes. Colocalizes with OBSCN at the intercalated disk and at sarcolemma in cardiomyocytes.
Involvement in disease
Arrhythmogenic right ventricular dysplasia, familial, 14 (ARVD14): A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS): An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies.
Topology
Extracellular: 160-724
Helical: 725-745
Cytoplasmic: 746-906
PTM
Cleaved by MMP24. Ectodomain cleavage leads to the generation of a soluble 90 kDa N-terminal soluble fragment and a 45 kDa membrane-bound C-terminal fragment 1 (CTF1), which is further cleaved by gamma-secretase into a 35 kDa (By similarity). Cleavage in neural stem cells by MMP24 affects CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate neural stem cell quiescence (By similarity).
May be phosphorylated by OBSCN.
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Datasheet