PCDH12

PCDH12 belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth.

Protocadherin 12

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).

Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesIEA:Ensembl
Cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Glycogen metabolic processIEA:Ensembl
Homophilic cell adhesion via plasma membrane adhesion moleculesIEA:Ensembl
Labyrinthine layer developmentIEA:Ensembl
Neuron recognitionManual Assertion Based On ExperimentTAS:ProtInc

Protocadherin-12
Cell membrane
Cell junction
Protocadherin-12, secreted form
Secreted
The secreted form is produced following cleavage by ADAM10.

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.

Extracellular: 25-718
Helical: 719-739
Cytoplasmic: 740-1184

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.