Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
DIAPH2
Introduction
Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.[1][2]
Function
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.[2]
References
References
- ↑ Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC (Dec 1997). “Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous”. Science. 278 (5341): 1315–8. doi:10.1126/science.278.5341.1315. PMID 9360932.
- ↑ 2.0 2.1 “Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)”.
- ↑ Gasman S, Kalaidzidis Y, Zerial M (Mar 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.
Further reading
Further reading
- Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S (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, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D (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, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D (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.
- Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprà L (2000). “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, Iacconi P, Iervasi G (2001). “A radioimmunoassay for type I iodothyronine 5′-monodeiodinase in human tissues”. Thyroid. 11 (8): 733–9. doi:10.1089/10507250152484565. PMID 11525265.
- 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.
- Yasuda S, Oceguera-Yanez F, Kato T, Okamoto M, Yonemura S, Terada Y, Ishizaki T, Narumiya S (2004). “Cdc42 and mDia3 regulate microtubule attachment to kinetochores”. Nature. 428 (6984): 767–71. doi:10.1038/nature02452. PMID 15085137.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (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, Holman HA, Higgs HN, Alberts AS (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.