Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 387733
MIM: 614757
HGNC: 16644
Ensembl: ENSG00000206013
Variants:
dbSNP: 387733
ClinVar: 387733
TCGA: ENSG00000206013
COSMIC: IFITM5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000206013 | ENST00000382614 | A6NNB3 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35216266 | 2022 | The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts. | 0 |
| 35216266 | 2022 | The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts. | 0 |
| 33360005 | 2021 | Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. | 3 |
| 33360005 | 2021 | Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. | 3 |
| 31159867 | 2019 | IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients. | 7 |
| 31159867 | 2019 | IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients. | 7 |
| 24478195 | 2014 | Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. | 18 |
| 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. | 10 |
| 24478195 | 2014 | Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. | 18 |
| 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. | 10 |
| 23240094 | 2013 | Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. | 51 |
| 23408678 | 2013 | Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. | 37 |
| 23804581 | 2013 | Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. | 12 |
| 23813632 | 2013 | A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. | 10 |
| 23977282 | 2013 | Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. | 8 |
Citation
Dessen P
IFITM5 (interferon induced transmembrane protein 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64513/ifitm5-(interferon-induced-transmembrane-protein-5)
