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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Protein diaphanous homolog 2''' is a [[protein]] that in humans is encoded by the ''DIAPH2'' [[gene]].<ref name="pmid9360932">{{cite journal | vauthors = Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC | title = Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous | journal = Science | volume = 278 | issue = 5341 | pages = 1315–8  | date = Dec 1997 | pmid = 9360932 | pmc = | doi = 10.1126/science.278.5341.1315 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1730| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Diaphanous homolog 2 (Drosophila)
| HGNCid = 2877
| Symbol = DIAPH2
| AltSymbols =; DIA; DIA2; FLJ11167; POF; POF2
| OMIM = 300108
| ECnumber = 
| Homologene = 68551
| MGIid = 1858500
| GeneAtlas_image1 = PBB_GE_DIAPH2_205603_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_DIAPH2_205726_at_tn.png
| GeneAtlas_image3 = PBB_GE_DIAPH2_217246_s_at_tn.png
| Function = {{GNF_GO|id=GO:0003779 |text = actin binding}} {{GNF_GO|id=GO:0005102 |text = receptor binding}} {{GNF_GO|id=GO:0017048 |text = Rho GTPase binding}}
| Component =
| Process = {{GNF_GO|id=GO:0000910 |text = cytokinesis}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0016043 |text = cellular component organization and biogenesis}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}} {{GNF_GO|id=GO:0048477 |text = oogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1730
    | Hs_Ensembl = ENSG00000147202
    | Hs_RefseqProtein = NP_006720
    | Hs_RefseqmRNA = NM_006729
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 95826367
    | Hs_GenLoc_end = 96746652
    | Hs_Uniprot = O60879
    | Mm_EntrezGene = 54004
    | Mm_Ensembl = ENSMUSG00000034480
    | Mm_RefseqmRNA = NM_017398
    | Mm_RefseqProtein = NP_059094
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = X
    | Mm_GenLoc_start = 125096143
    | Mm_GenLoc_end = 125807462
    | Mm_Uniprot = Q3U4Y4
  }}
}}
'''Diaphanous homolog 2 (Drosophila)''', also known as '''DIAPH2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1730| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1730| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
DIAPH2 has been shown to [[Protein-protein interaction|interact]] with [[RhoD]].<ref name=pmid12577064>{{cite journal | vauthors = Gasman S, Kalaidzidis Y, Zerial M | title = RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase | journal = Nat. Cell Biol. | volume = 5 | issue = 3 | pages = 195–204  | date = Mar 2003 | pmid = 12577064 | doi = 10.1038/ncb935 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S | title = Physical mapping of DNA markers in the q13-q22 region of the human X chromosome | journal = Genomics | volume = 17 | issue = 1 | pages = 147–52 | year = 1993 | pmid = 8406446 | doi = 10.1006/geno.1993.1296 }}
| citations =
* {{cite journal | vauthors = Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D | title = Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21 | journal = Genomics | volume = 40 | issue = 1 | pages = 123–31 | year = 1997 | pmid = 9070928 | doi = 10.1006/geno.1996.4542 }}
*{{cite journal | author=Philippe C, Cremers FP, Chery M, ''et al.'' |title=Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. |journal=Genomics |volume=17 |issue= 1 |pages= 147-52 |year= 1993 |pmid= 8406446 |doi= 10.1006/geno.1993.1296 }}
* {{cite journal | vauthors = Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D | title = 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 | journal = Am. J. Hum. Genet. | volume = 62 | issue = 3 | pages = 533–41 | year = 1998 | pmid = 9497258 | pmc = 1376955 | doi = 10.1086/301761 }}
*{{cite journal | author=Sala C, Arrigo G, Torri G, ''et al.'' |title=Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. |journal=Genomics |volume=40 |issue= 1 |pages= 123-31 |year= 1997 |pmid= 9070928 |doi= 10.1006/geno.1996.4542 }}
* {{cite journal | vauthors = Marozzi A, Manfredini E, Tibiletti MG, Furlan D, Villa N, Vegetti W, Crosignani PG, Ginelli E, Meneveri R, Dalprà L | title = Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure | journal = Hum. Genet. | volume = 107 | issue = 4 | pages = 304–11 | year = 2000 | pmid = 11129329 | doi = 10.1007/s004390000364 }}
*{{cite journal | author=Lynch ED, Lee MK, Morrow JE, ''et al.'' |title=Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. |journal=Science |volume=278 |issue= 5341 |pages= 1315-8 |year= 1997 |pmid= 9360932 |doi=  }}
* {{cite journal | vauthors = Satoh S, Tominaga T | title = mDia-interacting protein acts downstream of Rho-mDia and modifies Src activation and stress fiber formation | journal = J. Biol. Chem. | volume = 276 | issue = 42 | pages = 39290–4 | year = 2001 | pmid = 11509578 | doi = 10.1074/jbc.M107026200 }}
*{{cite journal  | author=Bione S, Sala C, Manzini C, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 533-41 |year= 1998 |pmid= 9497258 |doi= }}
* {{cite journal | vauthors = Sabatino L, Chopra IJ, Tanavoli S, Iacconi P, Iervasi G | title = A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues | journal = Thyroid | volume = 11 | issue = 8 | pages = 733–9 | year = 2001 | pmid = 11525265 | doi = 10.1089/10507250152484565 }}
*{{cite journal | author=Marozzi A, Manfredini E, Tibiletti MG, ''et al.'' |title=Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. |journal=Hum. Genet. |volume=107 |issue= 4 |pages= 304-11 |year= 2001 |pmid= 11129329 |doi= }}
* {{cite journal | vauthors = Gasman S, Kalaidzidis Y, Zerial M | title = RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase | journal = Nat. Cell Biol. | volume = 5 | issue = 3 | pages = 195–204 | year = 2003 | pmid = 12577064 | doi = 10.1038/ncb935 }}
*{{cite journal | author=Satoh S, Tominaga T |title=mDia-interacting protein acts downstream of Rho-mDia and modifies Src activation and stress fiber formation. |journal=J. Biol. Chem. |volume=276 |issue= 42 |pages= 39290-4 |year= 2001 |pmid= 11509578 |doi= 10.1074/jbc.M107026200 }}
* {{cite journal | vauthors = | title = Retraction. Binding to the transferrin receptor is required for endocytosis of HFE and regulation of iron homeostasis | journal = Nat. Cell Biol. | volume = 5 | issue = 7 | pages = 680 | year = 2003 | pmid = 12833069 | doi = 10.1038/ncb0703-680a }}
*{{cite journal | author=Sabatino L, Chopra IJ, Tanavoli S, ''et al.'' |title=A radioimmunoassay for type I iodothyronine 5'-monodeiodinase in human tissues. |journal=Thyroid |volume=11 |issue= 8 |pages= 733-9 |year= 2002 |pmid= 11525265 |doi= 10.1089/10507250152484565 }}
* {{cite journal | vauthors = Yasuda S, Oceguera-Yanez F, Kato T, Okamoto M, Yonemura S, Terada Y, Ishizaki T, Narumiya S | title = Cdc42 and mDia3 regulate microtubule attachment to kinetochores | journal = Nature | volume = 428 | issue = 6984 | pages = 767–71 | year = 2004 | pmid = 15085137 | doi = 10.1038/nature02452 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–48 | year = 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 }}
*{{cite journal  | author=Gasman S, Kalaidzidis Y, Zerial M |title=RhoD regulates endosome dynamics through Diaphanous-related Formin and Src tyrosine kinase. |journal=Nat. Cell Biol. |volume=5 |issue= 3 |pages= 195-204 |year= 2003 |pmid= 12577064 |doi= 10.1038/ncb935 }}
* {{cite journal | vauthors = Wallar BJ, Deward AD, Resau JH, Alberts AS | title = RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking | journal = Exp. Cell Res. | volume = 313 | issue = 3 | pages = 560–71 | year = 2007 | pmid = 17198702 | doi = 10.1016/j.yexcr.2006.10.033 }}
*{{cite journal | author= |title=Retraction. Binding to the transferrin receptor is required for endocytosis of HFE and regulation of iron homeostasis. |journal=Nat. Cell Biol. |volume=5 |issue= 7 |pages= 680 |year= 2003 |pmid= 12833069 |doi= 10.1038/ncb0703-680a }}
* {{cite journal | vauthors = Eisenmann KM, Harris ES, Kitchen SM, Holman HA, Higgs HN, Alberts AS | title = Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex | journal = Curr. Biol. | volume = 17 | issue = 7 | pages = 579–91 | year = 2007 | pmid = 17398099 | doi = 10.1016/j.cub.2007.03.024 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Yasuda S, Oceguera-Yanez F, Kato T, ''et al.'' |title=Cdc42 and mDia3 regulate microtubule attachment to kinetochores. |journal=Nature |volume=428 |issue= 6984 |pages= 767-71 |year= 2004 |pmid= 15085137 |doi= 10.1038/nature02452 }}
*{{cite journal | author=Ross MT, Grafham DV, Coffey AJ, ''et al.'' |title=The DNA sequence of the human X chromosome. |journal=Nature |volume=434 |issue= 7031 |pages= 325-37 |year= 2005 |pmid= 15772651 |doi= 10.1038/nature03440 }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Wallar BJ, Deward AD, Resau JH, Alberts AS |title=RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking. |journal=Exp. Cell Res. |volume=313 |issue= 3 |pages= 560-71 |year= 2007 |pmid= 17198702 |doi= 10.1016/j.yexcr.2006.10.033 }}
*{{cite journal | author=Eisenmann KM, Harris ES, Kitchen SM, ''et al.'' |title=Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex. |journal=Curr. Biol. |volume=17 |issue= 7 |pages= 579-91 |year= 2007 |pmid= 17398099 |doi= 10.1016/j.cub.2007.03.024 }}
}}
{{refend}}
{{refend}}


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{{WikiDoc Sources}}
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Latest revision as of 18:27, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. ↑ 2.0 2.1 "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


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