External Ids for CDH7 Gene
Previous GeneCards Identifiers for CDH7 Gene
This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. 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. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with multiple psychiatric disorders and play a causal role in CHARGE syndrome in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, Nov 2015]
GeneCards Summary for CDH7 Gene
CDH7 (Cadherin 7, Type 2) is a Protein Coding gene. Diseases associated with CDH7 include charge syndrome. Among its related pathways are ERK Signaling and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH19.
UniProtKB/Swiss-Prot for CDH7 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