Aliases for BCL2A1 Gene
External Ids for BCL2A1 Gene
Previous HGNC Symbols for BCL2A1 Gene
Previous GeneCards Identifiers for BCL2A1 Gene
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for BCL2A1 Gene
BCL2A1 (BCL2 Related Protein A1) is a Protein Coding gene. Diseases associated with BCL2A1 include Robinow Syndrome, Autosomal Recessive and Botryoid Rhabdomyosarcoma. Among its related pathways are Apoptosis Modulation and Signaling and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and BH domain binding. An important paralog of this gene is ST20.
UniProtKB/Swiss-Prot for BCL2A1 Gene
Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity).