Aliases for CD53 Gene
External Ids for CD53 Gene
Previous HGNC Symbols for CD53 Gene
Previous GeneCards Identifiers for CD53 Gene
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
GeneCards Summary for CD53 Gene
CD53 (CD53 Molecule) is a Protein Coding gene. Diseases associated with CD53 include Intestinal Tuberculosis and Gastrointestinal Tuberculosis. Among its related pathways are Immune System. An important paralog of this gene is TSPAN9.
UniProtKB/Swiss-Prot for CD53 Gene
Required for efficient formation of myofibers in regenerating muscle at the level of cell fusion. May be involved in growth regulation in hematopoietic cells (By similarity).