Aliases for DIAPH2 Gene
External Ids for DIAPH2 Gene
Previous GeneCards Identifiers for DIAPH2 Gene
The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GeneCards Summary for DIAPH2 Gene
DIAPH2 (Diaphanous Related Formin 2) is a Protein Coding gene. Diseases associated with DIAPH2 include Premature Ovarian Failure 2A and Blepharophimosis, Ptosis, And Epicanthus Inversus. Among its related pathways are Signaling by Rho GTPases and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include binding and actin binding. An important paralog of this gene is DIAPH3.
UniProtKB/Swiss-Prot for DIAPH2 Gene
Could be involved in oogenesis. Involved in the regulation of endosome dynamics. Implicated in a novel signal transduction pathway, in which isoform 3 and CSK are sequentially activated by RHOD to regulate the motility of early endosomes through interactions with the actin cytoskeleton.