IFITM5
Interferon Induced Transmembrane Protein 5
Gene Information Card
| Symbol | IFITM5 |
|---|---|
| Full Name | Interferon Induced Transmembrane Protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 387733 ncbi.nlm.nih.gov/gene/387733 |
| Ensembl ID | ENSG00000206013 |
| UniProt ID | Q9H2W6 |
| OMIM ID | 614757 |
| HGNC ID | 16644 |
| Aliases | BRIL, DSPA2b, IFITM5 |
Description
IFITM5 (Interferon Induced Transmembrane Protein 5), also known as BRIL (Bone Restricted Interferon Induced Transmembrane Like protein), is a protein-coding gene located on chromosome 11p15.5. It encodes a transmembrane protein that is highly expressed in osteoblasts and plays a critical role in bone mineralization and osteoblast maturation. Mutations in IFITM5 are associated with autosomal dominant osteogenesis imperfecta type V (OI type V), characterized by hyperplastic callus formation, calcification of the interosseous membrane, and radial head dislocation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis Imperfecta Type V | Gain-of-function mutation (c.-14C>T) in the 5' UTR creates a novel start codon, leading to an extended N-terminal peptide that disrupts bone mineralization. | ClinVar, OMIM #614757 |
| Osteogenesis Imperfecta Type V (other variants) | Missense mutations (e.g., p.Ser40Leu) alter protein function, impairing osteoblast differentiation and matrix mineralization. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | Not available | High |
| Skeletal muscle | Not available | Low |
| Heart | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hFOB 1.19 (osteoblast) | Not available | High expression |
| MG-63 (osteosarcoma) | Not available | Moderate expression |
| HeLa | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.-14C>T | 5' UTR substitution | Found in all OI type V cases | Creates novel start codon, extends N-terminus by 5 amino acids (Met-Ala-Leu-Glu-Pro) |
| p.Ser40Leu | Missense | Rare | Alters transmembrane domain, reduces protein stability |
Mutation functional classification
Loss of Function (LOF)
Not reported for IFITM5; loss-of-function variants are not associated with disease.
Gain of Function (GOF)
c.-14C>T mutation creates a novel start codon, resulting in an extended protein with altered function.
Dominant Negative (DN)
Not established; current evidence supports gain-of-function mechanism.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • bone mineralization (GO:0030282) | • ossification (GO:0001503) |
| • bone development (GO:0060348) |
Pathways
• Interferon signaling (Reactome: R-HSA-913531)
• Osteoblast differentiation and bone mineralization
Protein Summary
IFITM5 encodes a 130-amino acid transmembrane protein (BRIL) with two transmembrane domains and a short extracellular loop. It is predominantly expressed in osteoblasts and localizes to the plasma membrane. The protein is involved in bone mineralization, likely by regulating calcium phosphate deposition. The c.-14C>T mutation in the 5' UTR leads to an N-terminal extension that disrupts normal protein trafficking and function, causing osteogenesis imperfecta type V.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IFITM5 Knockout HEK293 Cell Line | EDJ-KQ11957 | Human | 387733 | Details Get a Quote |
| IFITM5 Knockout HeLa Cell Line | EDJ-KQ59987 | Human | 387733 | Details Get a Quote |
| IFITM5 Knockout A-549 Cell Line | EDJ-KQ68449 | Human | 387733 | Details Get a Quote |
| IFITM5 Knockout HCT 116 Cell Line | EDJ-KQ76826 | Human | 387733 | Details Get a Quote |
