# DIAPH2

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**Protein diaphanous homolog 2** is a [protein](/source/Protein) that in humans is encoded by the *DIAPH2* [gene](/source/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.[2]

## Interactions

DIAPH2 has been shown to [interact](/source/Protein-protein_interaction) with [RhoD](/source/RhoD).[3]

## References

1. 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. [Bibcode:1997Sci...278.1315L](https://ui.adsabs.harvard.edu/abs/1997Sci...278.1315L). [doi:10.1126/science.278.5341.1315](https://doi.org/10.1126/science.278.5341.1315). [PMID 9360932](https://pubmed.ncbi.nlm.nih.gov/9360932)

1. ["Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)"](https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1730)

1. 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](https://doi.org/10.1038/ncb935). [PMID 12577064](https://pubmed.ncbi.nlm.nih.gov/12577064). [S2CID 17891748](https://api.semanticscholar.org/CorpusID:17891748)

## 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](https://doi.org/10.1006/geno.1993.1296). [PMID 8406446](https://pubmed.ncbi.nlm.nih.gov/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](https://doi.org/10.1006/geno.1996.4542). [PMID 9070928](https://pubmed.ncbi.nlm.nih.gov/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](https://doi.org/10.1086/301761). [PMC 1376955](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376955). [PMID 9497258](https://pubmed.ncbi.nlm.nih.gov/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](https://doi.org/10.1007/s004390000364). [PMID 11129329](https://pubmed.ncbi.nlm.nih.gov/11129329). [S2CID 11101985](https://api.semanticscholar.org/CorpusID:11101985)
- 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](https://doi.org/10.1074/jbc.M107026200). [PMID 11509578](https://pubmed.ncbi.nlm.nih.gov/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](https://doi.org/10.1089/10507250152484565). [PMID 11525265](https://pubmed.ncbi.nlm.nih.gov/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](https://doi.org/10.1038/ncb935). [PMID 12577064](https://pubmed.ncbi.nlm.nih.gov/12577064). [S2CID 17891748](https://api.semanticscholar.org/CorpusID: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. [doi:10.1038/ncb0703-680a](https://doi.org/10.1038/ncb0703-680a). [PMID 12833069](https://pubmed.ncbi.nlm.nih.gov/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. [Bibcode:2004Natur.428..767Y](https://ui.adsabs.harvard.edu/abs/2004Natur.428..767Y). [doi:10.1038/nature02452](https://doi.org/10.1038/nature02452). [PMID 15085137](https://pubmed.ncbi.nlm.nih.gov/15085137). [S2CID 4401953](https://api.semanticscholar.org/CorpusID:4401953)
- 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](https://doi.org/10.1016/j.cell.2006.09.026). [PMID 17081983](https://pubmed.ncbi.nlm.nih.gov/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](https://doi.org/10.1016/j.yexcr.2006.10.033). [PMID 17198702](https://pubmed.ncbi.nlm.nih.gov/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. [Bibcode:2007CBio...17..579E](https://ui.adsabs.harvard.edu/abs/2007CBio...17..579E). [doi:10.1016/j.cub.2007.03.024](https://doi.org/10.1016/j.cub.2007.03.024). [PMID 17398099](https://pubmed.ncbi.nlm.nih.gov/17398099)

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Adapted from the Wikipedia article [DIAPH2](https://en.wikipedia.org/wiki/DIAPH2) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/DIAPH2?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.