IFITM5

Summary

Gene Symbol: IFITM5
Description: interferon induced transmembrane protein 5
Alias: BRIL, DSPA1, Hrmp1, OI5, fragilis4, interferon-induced transmembrane protein 5, bone-restricted ifitm-like protein, bone-restricted interferon-induced transmembrane protein-like protein, dispanin subfamily A member 1
Species: human
Products:     IFITM5

Top Publications

  1. Moffatt P, Gaumond M, Salois P, Sellin K, Bessette M, Godin E, et al. Bril: a novel bone-specific modulator of mineralization. J Bone Miner Res. 2008;23:1497-508 pubmed publisher
    ..Although previously identified in silico as ifitm5, no localization or functional studies had been undertaken on this gene...
  2. Siegrist F, Ebeling M, Certa U. The small interferon-induced transmembrane genes and proteins. J Interferon Cytokine Res. 2011;31:183-97 pubmed publisher
    Interferon-induced transmembrane (IFITM) genes are transcribed in most tissues and are with the exception of IFITM5 interferon inducible. They are involved in early development, cell adhesion, and control of cell growth...
  3. S llman Alm n M, Bringeland N, Fredriksson R, Schi th H. The dispanins: a novel gene family of ancient origin that contains 14 human members. PLoS ONE. 2012;7:e31961 pubmed publisher
    ..The bacterial and eukaryotic sequences have a considerably conserved protein structure. In conclusion, we introduce a novel family, the Dispanins, together with a nomenclature based on the evolutionary origin...
  4. Cho T, Lee K, Lee S, Song S, Kim K, Jeon D, et al. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012;91:343-8 pubmed publisher
    ..14C>T in the 5'-untranslated region of a gene encoding interferon-induced transmembrane protein 5 (IFITM5). It completely cosegregated with the disease in three families and occurred de novo in five simplex individuals...
  5. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, et al. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012;91:349-57 pubmed publisher
    ..found a heterozygous de novo mutation in the 5'-untranslated region of IFITM5 (the gene encoding Interferon induced transmembrane protein 5), 14 bp upstream of the annotated translation initiation codon (c.-14C>T)...
  6. Shapiro J, Lietman C, Grover M, Lu J, Nagamani S, Dawson B, et al. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013;28:1523-30 pubmed publisher
    ..the same mutation in the 5' untranslated region (5'UTR) of the interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c...
  7. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund A, et al. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. J Med Genet. 2013;50:21-4 pubmed publisher
    ..Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our institutions for the presence of ..
  8. Balasubramanian M, Parker M, Dalton A, Giunta C, Lindert U, Peres L, et al. Genotype-phenotype study in type V osteogenesis imperfecta. Clin Dysmorphol. 2013;22:93-101 pubmed publisher
    ..the Sheffield Diagnostic Genetics Service pyrosequencing assay for the interferon-induced transmembrane protein-5 (IFITM5) gene. All the patients had been confirmed to have a heterozygous variant, c...
  9. Kuroda S, Wazen R, Sellin K, Tanaka E, Moffatt P, Nanci A. Ameloblastin is not implicated in bone remodelling and repair. Eur Cell Mater. 2011;22:56-66; discussion 66-7 pubmed
    ..Tissues were processed for immunolabelling of AMBN and Bril, an osteoblast specific protein associated with active bone formation...

More Information

Publications42

  1. Retrouvey J, Taqi D, Tamimi F, Dagdeviren D, Glorieux F, Lee B, et al. Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Eur J Med Genet. 2018;: pubmed publisher
    ..14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to ..
  2. Mo X, Lu Y, Han J. Effects of targeted modulation of miR-762 on expression of the IFITM5 gene in Saos-2 cells. Intractable Rare Dis Res. 2014;3:12-8 pubmed publisher
    Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that plays an important role in the mineralization of the matrix in mature osteoblasts...
  3. Blouin S, Fratzl Zelman N, Glorieux F, Roschger P, Klaushofer K, Marini J, et al. Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation. J Bone Miner Res. 2017;32:1884-1892 pubmed publisher
    ..OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted interferon-inducible ..
  4. Mohd Nawawi N, Selveindran N, Rasat R, Chow Y, Abdul Latiff Z, Syed Zakaria S, et al. Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta. Clin Chim Acta. 2018;484:141-147 pubmed publisher
    ..Furthermore, a few patients (28%, n = 8) had mutations in IFITM5, BMP1, P3H1 and SERPINF1...
  5. Wang J, Li L, Zhang Q, Liu Y, Lv F, Xu X, et al. Extremely low level of serum pigment epithelium-derived factor is a special biomarker of Chinese osteogenesis imperfecta patients with SERPINF1 mutations. Clin Chim Acta. 2018;478:216-221 pubmed publisher
    ..with SERPINF1 mutations, 6 carriers of one copy of the SERPINF1 mutation, 88 OI patients with COL1A1, CLO1A2, IFITM5 and other pathogenic mutations of OI and 24 healthy controls...
  6. Smith J, Sadeyen J, Butter C, Kaiser P, Burt D. Analysis of the early immune response to infection by infectious bursal disease virus in chickens differing in their resistance to the disease. J Virol. 2015;89:2469-82 pubmed publisher
    ..Antiviral genes, including IFNA, IFNG, MX1, IFITM1, IFITM3, and IFITM5, were upregulated in response to infection...
  7. Owen T, Salom D, Sun W, Palczewski K. Increasing the Stability of Recombinant Human Green Cone Pigment. Biochemistry. 2018;57:1022-1030 pubmed publisher
    ..By inserting five different thermostabilizing proteins (BRIL, T4L, PGS, RUB, and FLAV) into the recombinant green opsin sequence, constructs were created that were up to 9-fold ..
  8. Marini J, Reich A, Smith S. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr. 2014;26:500-7 pubmed publisher
    ..Bone-restricted interferon-induced transmembrane (IFITM)-like protein (BRIL) and pigment epithelium-derived factor (PEDF) defects cause types V and VI osteogenesis imperfecta via defective ..
  9. Lietman C, Marom R, Munivez E, Bertin T, Jiang M, Chen Y, et al. A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. J Bone Miner Res. 2015;30:489-98 pubmed publisher
    ..It is caused by a recurrent mutation in the 5' UTR of the IFITM5 gene (c.-14C > T)...
  10. Liu B, Lu Y, Han F, Wang Y, Mo X, Han J. Effects of the overexpression of IFITM5 and IFITM5 c.-14C>T mutation on human osteosarcoma cells. Oncol Lett. 2017;13:111-118 pubmed publisher
    The present study aimed to investigate the effects of overexpression of interferon-induced transmembrane protein 5 (IFITM5) and IFITM5 c...
  11. Bardai G, Moffatt P, Glorieux F, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int. 2016;27:3607-3613 pubmed
    ..In moderate to severe OI, dominant mutations were found in COL1A1/COL1A2 (77 %), IFITM5 (9 %), and P4HB (0.6 %)...
  12. Ahi E, Sefc K. Anterior-posterior gene expression differences in three Lake Malawi cichlid fishes with variation in body stripe orientation. Peerj. 2017;5:e4080 pubmed publisher
    ..g., sdf1a, col14a1a, ifitm5, and agpat3, with the exception of fbxw4/hagoromo (differentially expressed in an oblique-and ..
  13. Rauch F, Geng Y, Lamplugh L, Hekmatnejad B, Gaumond M, Penney J, et al. Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice. Bone. 2018;107:131-142 pubmed publisher
    Osteogenesis imperfecta (OI) type V is caused by an autosomal dominant mutation in the IFITM5 gene, also known as BRIL. The c...
  14. Lazarus S, McInerney Leo A, McKenzie F, Baynam G, Broley S, Cavan B, et al. The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskelet Disord. 2014;15:107 pubmed publisher
    ..14C > T) in the 5' untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue...
  15. Farber C, Reich A, Barnes A, Becerra P, Rauch F, Cabral W, et al. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. J Bone Miner Res. 2014;29:1402-11 pubmed
    Osteogenesis imperfecta (OI) types V and VI are caused, respectively, by a unique dominant mutation in IFITM5, encoding BRIL, a transmembrane ifitm-like protein most strongly expressed in the skeletal system, and recessive null mutations ..
  16. Guillen Navarro E, Ballesta Martinez M, Valencia M, Bueno A, Martinez Glez V, Lopez Gonzalez V, et al. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A. 2014;164A:1136-42 pubmed publisher
    The IFITM5 gene has recently been found to be mutated in patients with autosomal dominant osteogenesis imperfecta (OI) type V...
  17. Kim O, Jin D, Kosaki K, Kim J, Cho S, Yoo W, et al. Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. Am J Med Genet A. 2013;161A:1972-9 pubmed publisher
    ..These observations provide clues to recognize OI type V more promptly and guide to direct targeted molecular study. © 2013 Wiley Periodicals, Inc. ..
  18. Liu Y, Asan -, Ma D, Lv F, Xu X, Xia W, et al. Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing. Osteoporos Int. 2017;28:2985-2995 pubmed publisher
    ..3% of all molecularly diagnosed patients, followed by IFITM5 (n = 9, 10%), SERPINF1 (n = 4, 4.4%), WNT1 (n = 4, 4.4%), FKBP10 (n = 3, 3.3%), TMEM38B (n = 3, 3...
  19. Kim M, Lim J, Lee J, Lee K, Kim S, Park K, et al. Understanding the functional role of genistein in the bone differentiation in mouse osteoblastic cell line MC3T3-E1 by RNA-seq analysis. Sci Rep. 2018;8:3257 pubmed publisher
    ..genes (Ereg and Efcab2) enhance osteoblastic cell differentiation, while three down-regulated genes (Hrc, Gli, and Ifitm5) suppress the differentiation...
  20. Sun B, Bachhawat P, Chu M, Wood M, Ceska T, Sands Z, et al. Crystal structure of the adenosine A2A receptor bound to an antagonist reveals a potential allosteric pocket. Proc Natl Acad Sci U S A. 2017;114:2066-2071 pubmed publisher
    ..5 Ã… resolution. The A2A receptor with a cytochrome b562-RIL (BRIL) fusion (A2AR-BRIL) in the intracellular loop 3 (ICL3) was crystallized in detergent micelles using ..
  21. Lange U, Saitou M, Western P, Barton S, Surani M. The fragilis interferon-inducible gene family of transmembrane proteins is associated with germ cell specification in mice. BMC Dev Biol. 2003;3:1 pubmed
    ..Furthermore, its evolutionary conservation suggests that it probably plays a critical role in all mammals. Detailed analysis of these genes may also elucidate the role of interferons as signalling molecules during development. ..
  22. Liu Y, Wang J, Ma D, Lv F, Xu X, Xia W, et al. Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients. Clin Chim Acta. 2016;462:201-209 pubmed publisher
    ..The c.-14C>T mutation in the 5' untranslated region of IFITM5 was detected in all patients...
  23. Hanagata N. IFITM5 mutations and osteogenesis imperfecta. J Bone Miner Metab. 2016;34:123-31 pubmed publisher
    Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro...
  24. Zhang Z, Li M, He J, Fu W, Zhang C, Zhang Z. Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. PLoS ONE. 2013;8:e72337 pubmed publisher
    ..The causative mutation, c.-14C>T in the 5'-untranslated region of IFITM5, was recently discovered to be involved in this disease...
  25. Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishimura G, et al. A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Med Genet A. 2013;161A:1980-2 pubmed publisher
  26. Gorman M, Poddar S, Farzan M, Diamond M. The Interferon-Stimulated Gene Ifitm3 Restricts West Nile Virus Infection and Pathogenesis. J Virol. 2016;90:8212-25 pubmed publisher
    ..transcomplementation experiments showed that Ifitm3 inhibited WNV infection independently of Ifitm1, Ifitm2, Ifitm5, and Ifitm6...
  27. Ranganath P, Stephen J, Iyengar R, Phadke S. Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta. Indian Pediatr. 2016;53:250-2 pubmed
    ..Sequence analysis of the IFITM5 gene revealed the c.-14 C>T mutation...
  28. Blyth G, Chan W, Webster R, Magor K. Duck Interferon-Inducible Transmembrane Protein 3 Mediates Restriction of Influenza Viruses. J Virol. 2016;90:103-16 pubmed publisher
    ..We identify and sequence duck IFITM1, IFITM2, IFITM3, and IFITM5. Using quantitative PCR (qPCR), we demonstrate the upregulation of these genes in lung tissue in response to ..
  29. Hoyer Kuhn H, Semler O, Garbes L, Zimmermann K, Becker J, Wollnik B, et al. A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset. J Bone Miner Res. 2014;29:1387-91 pubmed publisher
    ..Recently, a heterozygous mutation in the 5'-untranslated region (UTR) of IFITM5 (c...
  30. Mrosk J, Bhavani G, Shah H, Hecht J, Krüger U, Shukla A, et al. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. Bone. 2018;110:368-377 pubmed publisher
    ..four individuals with Bruck syndrome due to FKBP10 mutations, three patients with hypertrophic callus caused by IFITM5 mutations, and twenty with pronounced bone bowing, of which eight carried WNT1 mutations...
  31. Baird J, Ryan K, Hayes I, Hampson L, Heyworth C, Clark A, et al. Differentiating embryonal stem cells are a rich source of haemopoietic gene products and suggest erythroid preconditioning of primitive haemopoietic stem cells. J Biol Chem. 2001;276:9189-98 pubmed
    ..We have used dot-blot and in situ analysis to indicate that this erythroid preconditioning is probably restricted to primitive but not definitive HSC. ..
  32. Guan S, Bai X, Wang Y, Liu Z, Ren X, Zhang T, et al. [Genetic mutation and clinical features of osteogenesis imperfecta type V]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:797-801 pubmed publisher
    ..Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing. A heterozygous mutation (c...
  33. Zhang Z, Liu J, Li M, Yang H, Zhang C. Evolutionary dynamics of the interferon-induced transmembrane gene family in vertebrates. PLoS ONE. 2012;7:e49265 pubmed publisher
    ..The vertebrate IFITM family can be divided into immunity-related IFITM (IR-IFITM), IFITM5 and IFITM10 sub-families in phylogeny, implying origins from three different progenitors...