protein diaphanous homolog 2 (DIAPH2, DIA)

Function

-could be involved in oogenesis

• involved in regulation of endosome dynamics
• implicated in a novel signal transduction pathway, in which isoform 3 & CSK are sequentially activated by RHOD to regulate motility of early endosomes through interactions with the actin cytoskeleton
• isoform 3 interacts with RHOD in the GTP-bound form
• DRFs are regulated by intramolecular GBD-DAD binding where Rho-GTP activates the DRFs by disrupting the GBD-DAD interaction

Structure

• belongs to the formin homology family, diaphanous subfamily
• contains 1 DAD (diaphanous autoregulatory) domain
• contains 1 FH1 (formin homology 1) domain
• contains 1 FH2 (formin homology 2) domain
• contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain

Compartment

• isoform 3:
  • cytoplasm, cytosol, early endosome
  • cytosolic but when coexpressed with RHOD, the 2 proteins colocalize to early endosomes

Alternative splicing

named isoforms=3

Expression

• expressed in testis, ovary, small intestine, prostate, lung, liver, kidney & leukocytes
• expressed from E16 in ovary & testis & during P6-P16 during differentiation of ovarian follicles

Pathology

• defects in DIAPH2 are the cause of premature ovarian failure type 2A

More general terms

• formin homology family protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1730
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1730
• OMIM: https://mirror.omim.org/entry/300108
• OMIM: https://mirror.omim.org/entry/300511
• UniProt: http://www.uniprot.org/uniprot/O60879.html