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. GO annotations related to this gene include protein dimerization activity and SNARE binding. An important paralog of this gene is STX1A.
UniProtKB/Swiss-Prot for STX2 Gene
Essential for epithelial morphogenesis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.