INF2

INF2
Identifiers
AliasesINF2, C14orf151, C14orf173, CMTDIE, FSGS5, pp9484, inverted formin, FH2 and WH2 domain containing, inverted formin 2
External IDsOMIM: 610982; MGI: 1917685; GeneCards: INF2
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

64423

70435

Ensembl

ENSG00000203485

ENSMUSG00000037679

UniProt

Q27J81

Q0GNC1

RefSeq (mRNA)

NM_001031714
NM_022489
NM_032714

NM_198411

RefSeq (protein)

NP_001026884
NP_071934
NP_116103

NP_940803
NP_001361128

Location (UCSC)Chr 14: 104.68 – 104.72 MbChr 12: 112.59 – 112.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Inverted formin-2 is a protein that in humans is encoded by the INF2 gene.[5][6] 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.[7][8] INF2 plays a role in mitochondrial fission and dorsal stress fiber formation.[9] 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.[10]

Clinical significance

It can be associated with Focal segmental glomerulosclerosis[11] and Charcot-Marie-Tooth Disease.[12]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000203485 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037679 – 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. ^ Chhabra ES, Higgs HN (September 2006). "INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization". The Journal of Biological Chemistry. 281 (36): 26754–67. doi:10.1074/jbc.M604666200. PMID 16818491.
  6. ^ "Entrez Gene: C14orf173 chromosome 14 open reading frame 173".
  7. ^ Ramabhadran V, Korobova F, Rahme GJ, Higgs HN (December 2011). "Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture". Molecular Biology of the Cell. 22 (24): 4822–33. doi:10.1091/mbc.E11-05-0457. PMC 3237625. PMID 21998196.
  8. ^ Chhabra ES, Ramabhadran V, Gerber SA, Higgs HN (May 2009). "INF2 is an endoplasmic reticulum-associated formin protein". Journal of Cell Science. 122 (Pt 9): 1430–40. doi:10.1242/jcs.040691. PMC 2721004. PMID 19366733.
  9. ^ Korobova F, Ramabhadran V, Higgs HN (January 2013). "An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2". Science. 339 (6118): 464–7. Bibcode:2013Sci...339..464K. doi:10.1126/science.1228360. PMC 3843506. PMID 23349293.
  10. ^ Gurel PS, Ge P, Grintsevich EE, Shu R, Blanchoin L, Zhou ZH, Reisler E, Higgs HN (January 2014). "INF2-mediated severing through actin filament encirclement and disruption". Current Biology. 24 (2): 156–64. Bibcode:2014CBio...24..156G. doi:10.1016/j.cub.2013.12.018. PMC 3992431. PMID 24412206.
  11. ^ Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR (January 2010). "Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis". Nature Genetics. 42 (1): 72–6. doi:10.1038/ng.505. PMC 2980844. PMID 20023659.
  12. ^ 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 (December 2011). "INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy". The New England Journal of Medicine. 365 (25): 2377–88. doi:10.1056/NEJMoa1109122. hdl:10261/57029. PMID 22187985. S2CID 17208136.

Further reading

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