Aliases for CLVS2 Gene
External Ids for CLVS2 Gene
Previous HGNC Symbols for CLVS2 Gene
Previous GeneCards Identifiers for CLVS2 Gene
This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]
GeneCards Summary for CLVS2 Gene
CLVS2 (Clavesin 2) is a Protein Coding gene. Diseases associated with CLVS2 include Microphthalmia, Syndromic 9. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include transporter activity and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is CLVS1.
UniProtKB/Swiss-Prot Summary for CLVS2 Gene
Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).