DIAPH2

From Wikipedia, the free encyclopedia

Diaphanous homolog 2 (Drosophila)

Identifiers

DIAPH2; DIA; DIA2; FLJ11167; POF; POF2

External IDs

OMIM: 300108 MGI: 1858500 HomoloGene: 68551

Gene ontology
Molecular Function:	• actin binding • receptor binding • Rho GTPase binding
Biological Process:	• cytokinesis • multicellular organismal development • cellular component organization and biogenesis • actin cytoskeleton organization and biogenesis • cell differentiation • oogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_006729 (mRNA)
NP_006720 (protein)

NM_017398 (mRNA)
NP_059094 (protein)

Location

Chr X: 95.83 - 96.75 Mb

Chr X: 125.1 - 125.81 Mb

Pubmed search

[1]

[2]

Diaphanous homolog 2 (Drosophila), also known as DIAPH2, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila).

[edit] Further reading

Philippe C, Cremers FP, Chery M, et al. (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, et al. (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.
Lynch ED, Lee MK, Morrow JE, et al. (1997). "Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.". Science 278 (5341): 1315–8. PMID 9360932.
Bione S, Sala C, Manzini C, et al. (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. PMID 9497258.
Marozzi A, Manfredini E, Tibiletti MG, et al. (2001). "Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure.". Hum. Genet. 107 (4): 304–11. 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, et al. (2002). "A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues.". Thyroid 11 (8): 733–9. doi:10.1089/10507250152484565. PMID 11525265.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
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." (2003). Nat. Cell Biol. 5 (7): 680. doi:10.1038/ncb0703-680a. PMID 12833069.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Yasuda S, Oceguera-Yanez F, Kato T, et al. (2004). "Cdc42 and mDia3 regulate microtubule attachment to kinetochores.". Nature 428 (6984): 767–71. doi:10.1038/nature02452. PMID 15085137.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome.". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMID 15772651.
Olsen JV, Blagoev B, Gnad F, et al. (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, et al. (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.