Aliases for SYNJ2 Gene
External Ids for SYNJ2 Gene
Previous GeneCards Identifiers for SYNJ2 Gene
The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
GeneCards Summary for SYNJ2 Gene
SYNJ2 (Synaptojanin 2) is a Protein Coding gene. Diseases associated with SYNJ2 include Charcot-Marie-Tooth Disease, Type 4J and Amyotrophic Lateral Sclerosis 11. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SYNJ1.
UniProtKB/Swiss-Prot Summary for SYNJ2 Gene
Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis.