DIAPH2
Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.[1][2]
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.[2]
Interactions
DIAPH2 has been shown to interact with RhoD.[3]
References
Further reading
- Philippe C, Cremers FP, Chery M, et al. (1993). "Physical mapping of DNA markers in the q13-q22 region of the human X chromosome.". Genomics 17 (1): 147–52. doi:10.1006/geno.1993.1296. PMID 8406446.
- Sala C, Arrigo G, Torri G, et al. (1997). "Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21.". Genomics 40 (1): 123–31. doi:10.1006/geno.1996.4542. PMID 9070928.
- Bione S, Sala C, Manzini C, et al. (1998). "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. doi:10.1086/301761. PMC 1376955. PMID 9497258. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1376955.
- Marozzi A, Manfredini E, Tibiletti MG, et al. (2001). "Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.". Hum. Genet. 107 (4): 304–11. doi:10.1007/s004390000364. PMID 11129329.
- Satoh S, Tominaga T (2001). "mDia-interacting protein acts downstream of Rho-mDia and modifies Src activation and stress fiber formation.". J. Biol. Chem. 276 (42): 39290–4. doi:10.1074/jbc.M107026200. PMID 11509578.
- Sabatino L, Chopra IJ, Tanavoli S, et al. (2002). "A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues.". Thyroid 11 (8): 733–9. doi:10.1089/10507250152484565. PMID 11525265.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Gasman S, Kalaidzidis Y, Zerial M (2003). "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase.". Nat. Cell Biol. 5 (3): 195–204. doi:10.1038/ncb935. PMID 12577064.
- "Retraction. Binding to the transferrin receptor is required for endocytosis of HFE and regulation of iron homeostasis.". Nat. Cell Biol. 5 (7): 680. 2003. doi:10.1038/ncb0703-680a. PMID 12833069.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Yasuda S, Oceguera-Yanez F, Kato T, et al. (2004). "Cdc42 and mDia3 regulate microtubule attachment to kinetochores.". Nature 428 (6984): 767–71. doi:10.1038/nature02452. PMID 15085137.
- Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2665286.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Wallar BJ, Deward AD, Resau JH, Alberts AS (2007). "RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking.". Exp. Cell Res. 313 (3): 560–71. doi:10.1016/j.yexcr.2006.10.033. PMID 17198702.
- Eisenmann KM, Harris ES, Kitchen SM, et al. (2007). "Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex.". Curr. Biol. 17 (7): 579–91. doi:10.1016/j.cub.2007.03.024. PMID 17398099.