PCDH12
Function
Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity). Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705). Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity). Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity).
Involvement in disease
Diencephalic-mesencephalic junction dysplasia syndrome 1
DMJDS1
An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Protocadherin-12
Cleaved by ADAM10 close to the transmembrane domain to release the Protocadherin-12, secreted form in the serum. Cleavage results in reduced cellular adhesion in a cell migration assay.
Tissue Specificity
Expressed in highly vascularized tissues including the heart and placenta, but most tissues contain a low level of expression (PubMed:11063261). Prominent expression in the spleen (PubMed:11063261). Present in villous and extravillous trophoblast (at protein level) (PubMed:21402705).
Cellular localization
- Protocadherin-12
- Cell membrane
- Single-pass type I membrane protein
- Cell junction
- Protocadherin-12, secreted form
- Secreted
- The secreted form is produced following cleavage by ADAM10.
Alternative names
UNQ395/PRO731, PCDH12, Protocadherin-12, Vascular cadherin-2, Vascular endothelial cadherin-2, VE-cad-2, VE-cadherin-2