DIAPH2 Antibody – Mouse Monoclonal

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]

Diaphanous-2: 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. Isoform 3 interacts with RHOD in the GTP-bound form. Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes. Belongs to the formin homology family. Diaphanous subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: Xq21.33

Cellular Component: Golgi apparatus; intracellular membrane-bound organelle; mitochondrion; early endosome; nucleolus; cytosol

Molecular Function: Rho GTPase binding; actin binding; receptor binding

Biological Process: oogenesis; actin filament polymerization; multicellular organismal development; cytokinesis; female gamete generation

Disease: Premature Ovarian Failure 2a