Property Summary

NCBI Gene PubMed Count 18
Grant Count 5
Funding $706,250.43
PubMed Score 31.61
PubTator Score 35.02

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession A6NNB3
Symbols OI5
BRIL
DSPA1
Hrmp1
fragilis4

Gene

Gene RIF (9)

PMID Text
24674092 The IFITM5 5' UTR was sequenced in 9 heterozygous subjects with osteogenesis imperfecta type V. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Identical mutations have variable phenotypic expression, even within the same family.
24478195 Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect.
23977282 The point mutation, c.-14C>T in the 5'-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients.
23813632 Recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
23804581 IFITM5 mutation is associated with Osteogenesis imperfecta type V.
23408678 The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation.
23240094 study demonstrates the presence of a recurrent IFITM5 mutation in a population of patients with osteogenesis imperfecta type V; even though the disease-causing mutation is identical among patients, the interindividual phenotypic variability is considerable
22863195 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.
22863190 A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

AA Sequence

MDTAYPREDTRAPTPSKAGAHTALTLGAPHPPPRDHLIWSVFSTLYLNLCCLGFLALAYSIKARDQKVVG      1 - 70
DLEAARRFGSKAKCYNILAAMWTLVPPLLLLGLVVTGALHLARLAKDSAAFFSTKFDDADYD             71 - 132
//

Text Mined References (20)

PMID Year Title
24674092 2014 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.
24519609 2014 A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.
24478195 2014 Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
24293101 2014 A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
24058703 2013 Role of S-palmitoylation on IFITM5 for the interaction with FKBP11 in osteoblast cells.
23977282 2013 Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.
23813632 2013 A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
23804581 2013 Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
23408678 2013 Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
23240094 2013 Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.
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