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词条 INF2
释义

  1. Clinical significance

  2. References

  3. Further reading

{{Infobox_gene}}Inverted formin-2 is a protein that in humans is encoded by the INF2 gene.[1][2] It belongs to the protein family called the formins. It has two splice isoforms, CAAX which localizes to the endoplasmic reticulum and non-CAAX which localizes to focal adhesions and the cytoplasm with enrichment at the Golgi.[3][4][5] INF2 plays a role in mitochondrial fission and dorsal stress fiber formation.[5][6] INF2 accelerates actin nucleation and elongation by interacting with barbed ends (fast-growing ends) of actin filaments, but also accelerates disassembly of actin through encircling and severing filaments.[7]

Clinical significance

It can be associated with Focal segmental glomerulosclerosis[8] and Charcot-Marie Tooth Disease.[9]

References

1. ^{{cite journal | vauthors = Chhabra ES, Higgs HN | title = INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization | journal = The Journal of Biological Chemistry | volume = 281 | issue = 36 | pages = 26754–67 | date = September 2006 | pmid = 16818491 | pmc = | doi = 10.1074/jbc.M604666200 }}
2. ^{{cite web | title = Entrez Gene: C14orf173 chromosome 14 open reading frame 173| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64423| accessdate = }}
3. ^{{cite journal | vauthors = Ramabhadran V, Korobova F, Rahme GJ, Higgs HN | title = Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture | journal = Molecular Biology of the Cell | volume = 22 | issue = 24 | pages = 4822–33 | date = December 2011 | pmid = 21998196 | pmc = 3237625 | doi = 10.1091/mbc.E11-05-0457 }}
4. ^{{cite journal | vauthors = Chhabra ES, Ramabhadran V, Gerber SA, Higgs HN | title = INF2 is an endoplasmic reticulum-associated formin protein | journal = Journal of Cell Science | volume = 122 | issue = Pt 9 | pages = 1430–40 | date = May 2009 | pmid = 19366733 | pmc = 2721004 | doi = 10.1242/jcs.040691 }}
5. ^1 {{cite journal | vauthors = Skau CT, Plotnikov SV, Doyle AD, Waterman CM | title = Inverted formin 2 in focal adhesions promotes dorsal stress fiber and fibrillar adhesion formation to drive extracellular matrix assembly | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 112 | issue = 19 | pages = E2447-56 | date = May 2015 | pmid = 25918420 | pmc = 4434736 | doi = 10.1073/pnas.1505035112 }}
6. ^{{cite journal | vauthors = Korobova F, Ramabhadran V, Higgs HN | title = An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2 | journal = Science | volume = 339 | issue = 6118 | pages = 464–7 | date = January 2013 | pmid = 23349293 | pmc = 3843506 | doi = 10.1126/science.1228360 }}
7. ^{{cite journal | vauthors = Gurel PS, Ge P, Grintsevich EE, Shu R, Blanchoin L, Zhou ZH, Reisler E, Higgs HN | title = INF2-mediated severing through actin filament encirclement and disruption | journal = Current Biology | volume = 24 | issue = 2 | pages = 156–64 | date = January 2014 | pmid = 24412206 | pmc = 3992431 | doi = 10.1016/j.cub.2013.12.018 }}
8. ^{{cite journal | vauthors = Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR | title = Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis | journal = Nature Genetics | volume = 42 | issue = 1 | pages = 72–6 | date = January 2010 | pmid = 20023659 | pmc = 2980844 | doi = 10.1038/ng.505 }}
9. ^{{cite journal | vauthors = Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G | title = INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy | journal = The New England Journal of Medicine | volume = 365 | issue = 25 | pages = 2377–88 | date = December 2011 | pmid = 22187985 | doi = 10.1056/NEJMoa1109122 | url = http://www.hal.inserm.fr/inserm-00919173/document }}

Further reading

{{refbegin|33em}}
  • {{cite journal | vauthors = Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S | title = Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes | journal = Genome Research | volume = 16 | issue = 1 | pages = 55–65 | date = January 2006 | pmid = 16344560 | pmc = 1356129 | doi = 10.1101/gr.4039406 }}
  • {{cite journal | vauthors = Bindschadler M, McGrath JL | title = Formin' new ideas about actin filament generation | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 101 | issue = 41 | pages = 14685–6 | date = October 2004 | pmid = 15466701 | pmc = 522045 | doi = 10.1073/pnas.0406317101 }}
  • {{cite journal | vauthors = Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL | title = Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes | journal = Genomics | volume = 84 | issue = 1 | pages = 205–10 | date = July 2004 | pmid = 15203218 | doi = 10.1016/j.ygeno.2004.01.011 }}
  • {{cite journal | vauthors = Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J | title = Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides | journal = Nature Biotechnology | volume = 21 | issue = 5 | pages = 566–9 | date = May 2003 | pmid = 12665801 | doi = 10.1038/nbt810 }}
  • {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1-2 | pages = 149–56 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
  • {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1-2 | pages = 171–4 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
{{refend}}{{gene-14-stub}}

1 : Human proteins
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