Aliases for STX2 Gene
External Ids for STX2 Gene
Previous HGNC Symbols for STX2 Gene
Previous GeneCards Identifiers for STX2 Gene
The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for STX2 Gene
STX2 (Syntaxin 2) is a Protein Coding gene. Diseases associated with STX2 include Osteogenesis Imperfecta, Type Xv and Deafness, Autosomal Dominant 41. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include protein dimerization activity and SNARE binding. An important paralog of this gene is STX1B.
UniProtKB/Swiss-Prot for STX2 Gene
Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.