DIAPH2

DIAPH2
Identifiers
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
Gene location (Human) Chr. X chromosome (human) [1] Band Xq21.33 Start 96,684,712 bp [1] End 97,604,997 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X E3 Start 128,650,491 bp [2] End 129,366,583 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1730 54004 Ensembl ENSG00000147202 ENSMUSG00000034480 UniProt O60879 O70566 RefSeq (mRNA) NM_007309 NM_006729 NM_017398 NM_172493 RefSeq (protein) NP_006720 NP_009293 NP_766081 Location (UCSC) Chr X: 96.68 – 97.6 Mb Chr X: 128.65 – 129.37 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000147202 – Ensembl, May 2017
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.
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.
6. "Entrez Gene: DIAPH2 diaphanous homolog 2 (Drosophila)".
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.

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.