DIAPH2 explained
Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.[1] [2]
Function
This gene may play a role in the development and normal function of the ovaries. Mutations of this gene have been linked to premature ovarian failure. Alternative splicing results in two protein isoforms.
Interactions
DIAPH2 has been shown to interact with RhoD.[3]
Further reading
- Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S . Physical mapping of DNA markers in the q13-q22 region of the human X chromosome . Genomics . 17 . 1 . 147–52 . 1993 . 8406446 . 10.1006/geno.1993.1296 .
- Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D . Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21 . Genomics . 40 . 1 . 123–31 . 1997 . 9070928 . 10.1006/geno.1996.4542 .
- Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D . A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility . Am. J. Hum. Genet. . 62 . 3 . 533–41 . 1998 . 9497258 . 1376955 . 10.1086/301761 .
- Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprà L . Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure . Hum. Genet. . 107 . 4 . 304–11 . 2000 . 11129329 . 10.1007/s004390000364 . 11101985 .
- Satoh S, Tominaga T . mDia-interacting protein acts downstream of Rho-mDia and modifies Src activation and stress fiber formation . J. Biol. Chem. . 276 . 42 . 39290–4 . 2001 . 11509578 . 10.1074/jbc.M107026200 . free .
- Sabatino L, Chopra IJ, Tanavoli S, Iacconi P, Iervasi G . A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues . Thyroid . 11 . 8 . 733–9 . 2001 . 11525265 . 10.1089/10507250152484565 .
- Gasman S, Kalaidzidis Y, Zerial M . RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase . Nat. Cell Biol. . 5 . 3 . 195–204 . 2003 . 12577064 . 10.1038/ncb935 . 17891748 .
- Retraction. Binding to the transferrin receptor is required for endocytosis of HFE and regulation of iron homeostasis . Nat. Cell Biol. . 5 . 7 . 680 . 2003 . 12833069 . 10.1038/ncb0703-680a . free .
- Yasuda S, Oceguera-Yanez F, Kato T, Okamoto M, Yonemura S, Terada Y, Ishizaki T, Narumiya S . Cdc42 and mDia3 regulate microtubule attachment to kinetochores . Nature . 428 . 6984 . 767–71 . 2004 . 15085137 . 10.1038/nature02452 . 2004Natur.428..767Y . 4401953 .
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . free .
- Wallar BJ, Deward AD, Resau JH, Alberts AS . RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking . Exp. Cell Res. . 313 . 3 . 560–71 . 2007 . 17198702 . 10.1016/j.yexcr.2006.10.033 .
- Eisenmann KM, Harris ES, Kitchen SM, Holman HA, Higgs HN, Alberts AS . Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex . Curr. Biol. . 17 . 7 . 579–91 . 2007 . 17398099 . 10.1016/j.cub.2007.03.024 . free . 2007CBio...17..579E .
Notes and References
- Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC . Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous . Science . 278 . 5341 . 1315–8 . Dec 1997 . 9360932 . 10.1126/science.278.5341.1315 . 1997Sci...278.1315L .
- Web site: Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila).
- Gasman S, Kalaidzidis Y, Zerial M . RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase . Nat. Cell Biol. . 5 . 3 . 195–204 . Mar 2003 . 12577064 . 10.1038/ncb935 . 17891748 .
