DOSEN PROFIL LENGKAP

DIAPH2
Identifiers
Aliases	DIAPH2, DIA, DIA2, DRF2, POF, POF2, diaphanous related formin 2, POF2A
External IDs	OMIM: 300108; MGI: 1858500; GeneCards: DIAPH2
Gene location (Human)
Chr.	X chromosome (human)
End	97,604,997 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	129,366,583 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; parietal pleura; ; bronchial epithelial cell; ; lower lobe of lung; ; visceral pleura; ; hair follicle; ; Achilles tendon; ; Epithelium of choroid plexus; ; placenta; ; sperm;
	Top expressed in
	olfactory tubercle; ; dorsal striatum; ; ascending aorta; ; stroma of bone marrow; ; iris; ; nucleus accumbens; ; aortic valve; ; left lung lobe; ; carotid body; ; epithelium of stomach;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	actin binding; signaling receptor binding;
Cellular component	cytoplasm; cytosol; endosome; early endosome; nucleolus; intracellular membrane-bounded organelle; endoplasmic reticulum;
Biological process	multicellular organism development; cell differentiation; female gamete generation; actin cytoskeleton organization; actin filament organization; oogenesis; cellular component organization;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	1730
	54004
	ENSG00000147202
	ENSMUSG00000034480
	O60879
	O70566
	NM_007309; NM_006729
	NM_017398; NM_172493
	NP_006720; NP_009293
	NP_766081
	Wikidata
View/Edit Human	View/Edit Mouse

Protein diaphanous homolog 2 is a protein that in humans is encoded by the DIAPH2 gene.^[5]^[6]

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]

Interactions

DIAPH2 has been shown to interact with RhoD.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000147202 – Ensembl, May 2017
^ ^a ^b ^c 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.
^ ^a ^b "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.

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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000147202 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034480 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9360932-5] 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-6] "Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)".

[pmid12577064-7] 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.

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DOSEN PROFIL LENGKAP

DIAPH2

Function

Interactions

References

Further reading

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