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CDH2

OverviewProducts

Domain

Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. Calcium-binding sites are occupied sequentially in the order of site 3, then site 2 and site 1.

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.

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.

None

The disease may be caused by variants affecting the gene represented in this entry.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

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.

Cellular localization

  • Cell membrane
  • Single-pass type I membrane protein
  • 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.

Alternative names

  • Cadherin-2
  • CDw325
  • Neural cadherin
  • N-cadherin
  • NCAD
  • CDHN
  • CDH2

Database links

Target type

Proteins

Primary research area

Oncology

Molecular weight

99809Da