DIAPH2
Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.[5][6]
| DIAPH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | DIAPH2, DIA, DIA2, DRF2, POF, POF2, diaphanous related formin 2, POF2A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 300108; MGI: 1858500; HomoloGene: 136807; GeneCards: DIAPH2; OMA:DIAPH2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[6]
References
- GRCh38: Ensembl release 89: ENSG00000147202 – Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000034480 – Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 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. doi:10.1126/science.278.5341.1315. PMID 9360932.
- "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. S2CID 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. 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. S2CID 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. 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. S2CID 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. 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. Bibcode:2004Natur.428..767Y. doi:10.1038/nature02452. PMID 15085137. S2CID 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. 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. Bibcode:2007CBio...17..579E. doi:10.1016/j.cub.2007.03.024. PMID 17398099.
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