Biology:DIAPH2
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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.[2]
Interactions
DIAPH2 has been shown to interact with RhoD.[3]
References
- ↑ "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous". Science 278 (5341): 1315–8. Dec 1997. doi:10.1126/science.278.5341.1315. PMID 9360932. Bibcode: 1997Sci...278.1315L.
- ↑ 2.0 2.1 "Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1730.
- ↑ "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase". Nat. Cell Biol. 5 (3): 195–204. Mar 2003. doi:10.1038/ncb935. PMID 12577064.
Further reading
- "Physical mapping of DNA markers in the q13-q22 region of the human X chromosome". Genomics 17 (1): 147–52. 1993. doi:10.1006/geno.1993.1296. PMID 8406446.
- "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. doi:10.1006/geno.1996.4542. PMID 9070928.
- "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. doi:10.1086/301761. PMID 9497258.
- "Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure". Hum. Genet. 107 (4): 304–11. 2000. doi:10.1007/s004390000364. PMID 11129329.
- "mDia-interacting protein acts downstream of Rho-mDia and modifies Src activation and stress fiber formation". J. Biol. Chem. 276 (42): 39290–4. 2001. doi:10.1074/jbc.M107026200. PMID 11509578.
- "A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues". Thyroid 11 (8): 733–9. 2001. doi:10.1089/10507250152484565. PMID 11525265.
- "RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase". Nat. Cell Biol. 5 (3): 195–204. 2003. 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.
- "Cdc42 and mDia3 regulate microtubule attachment to kinetochores". Nature 428 (6984): 767–71. 2004. doi:10.1038/nature02452. PMID 15085137. Bibcode: 2004Natur.428..767Y.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- "RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking". Exp. Cell Res. 313 (3): 560–71. 2007. doi:10.1016/j.yexcr.2006.10.033. PMID 17198702.
- "Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex". Curr. Biol. 17 (7): 579–91. 2007. doi:10.1016/j.cub.2007.03.024. PMID 17398099.
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