Protein diaphanous homolog 2 (Diaphanous-related formin-2,DRF2)
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],developmental stage:Expressed from E16 in ovary and testis and during P6-P16 during differentiation of ovarian follicles.,disease:Defects in DIAPH2 are a cause of premature ovarian failure 2 (POF2) [MIM:300511]. Premature ovarian failure (POF) is a defect of ovarian development and is characterized by hypoestrogenism, primary or secondary amenorrhea, with elevated levels of serum gonadotropins, or by early menopause. POF is defined as the cessation of ovarian function under the age of 40 years. The disorder has been attributed to various causes, including rearrangements of a large critical region in the long arm of the X chromosome.,domain:DRFs are regulated by intramolecular GBD-DAD binding where Rho-GTP activates the DRFs by disrupting the GBD-DAD interaction.,function: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.,similarity:Belongs to the formin homology family. Diaphanous subfamily.,similarity:Contains 1 DAD (diaphanous autoregulatory) domain.,similarity:Contains 1 FH1 (formin homology 1) domain.,similarity:Contains 1 FH2 (formin homology 2) domain.,similarity:Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.,subcellular location:Isoform 3 is cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes.,subunit:Isoform 3 interacts with RHOD in the GTP-bound form.,tissue specificity:Expressed in testis, ovary, small intestine, prostate, lung, liver, kidney and leukocytes.,
