Aliases for CDH12 Gene
External Ids for CDH12 Gene
Previous GeneCards Identifiers for CDH12 Gene
This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]
GeneCards Summary for CDH12 Gene
CDH12 (Cadherin 12) is a Protein Coding gene. Diseases associated with CDH12 include Microcephaly, Seizures, And Developmental Delay and Craniofacial-Deafness-Hand Syndrome. Among its related pathways are ERK Signaling and Cell junction organization. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH10.
UniProtKB/Swiss-Prot Summary for CDH12 Gene
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.