Aliases for PCDH12 Gene
External Ids for PCDH12 Gene
Previous GeneCards Identifiers for PCDH12 Gene
This gene 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for PCDH12 Gene
PCDH12 (Protocadherin 12) is a Protein Coding gene. Diseases associated with PCDH12 include Microcephaly, Seizures, Spasticity, And Brain Calcifications and Microcephaly With Spastic Quadriplegia. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH18.
UniProtKB/Swiss-Prot for PCDH12 Gene
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).