Aliases for CDH3 Gene
External Ids for CDH3 Gene
Previous GeneCards Identifiers for CDH3 Gene
This gene encodes a 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 protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]
GeneCards Summary for CDH3 Gene
CDH3 (Cadherin 3) is a Protein Coding gene. Diseases associated with CDH3 include Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy and Hypotrichosis, Congenital, With Juvenile Macular Dystrophy. Among its related pathways are Cell junction organization and ERK Signaling. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DSG2.
UniProtKB/Swiss-Prot for CDH3 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.