Aliases for SEPTIN4 Gene
External Ids for SEPTIN4 Gene
Previous HGNC Symbols for SEPTIN4 Gene
This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
GeneCards Summary for SEPTIN4 Gene
SEPTIN4 (Septin 4) is a Protein Coding gene. Diseases associated with SEPTIN4 include Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation and Parkinson Disease, Late-Onset. Among its related pathways are ERK Signaling and Nanomaterial induced apoptosis.
UniProtKB/Swiss-Prot Summary for SEPTIN4 Gene
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). May play a role in platelet secretion. Isoform ARTS, but not the other isoforms, is required for the induction of cell death mediated by TGF-beta and by other apoptotic stimuli.