DIAPH2

Diaphanous-related formin 2
Identifiers
Symbols	DIAPH2 ; DIA; DIA2; DRF2; POF; POF2
External IDs	OMIM: 300108 MGI: 1858500 HomoloGene: 136807 GeneCards: DIAPH2 Gene
Gene ontology Molecular function • actin binding • receptor binding • Rho GTPase binding Cellular component • nucleolus • mitochondrion • early endosome • Golgi apparatus • cytosol • intracellular membrane-bounded organelle Biological process • cytokinesis • small GTPase mediated signal transduction • multicellular organismal development • female gamete generation • actin filament polymerization • oogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1730	54004
Ensembl	ENSG00000147202	ENSMUSG00000034480
UniProt	O60879	O70566
RefSeq (mRNA)	NM_006729	NM_017398
RefSeq (protein)	NP_006720	NP_766081
Location (UCSC)	Chr X: 96.68 – 97.6 Mb	Chr X: 129.75 – 130.47 Mb
PubMed search

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

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. doi:10.1126/science.278.5341.1315. PMID 9360932.
2. "Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)".
3. 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

• 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.