IFITM5 Chromosome 11
Interferon induced transmembrane protein 5
Upload your DNA to see your personal genotypes for variants in IFITM5.
What This Gene Does
This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
"Interferon induced transmembrane protein family|Dispanins"
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000206013
Associated Conditions (4)
Inborn genetic diseases
Osteogenesis imperfecta
Osteogenesis imperfecta type 5
IFITM5-related disorder
Key Variants
RS112478479
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1267542305
Conflicting classifications of pathogenicity
Health Risk
RS1362690516
Conflicting classifications of pathogenicity
Osteogenesis imperfecta, Osteogenesis imperfecta
Health Risk
RS141240817
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 5
Health Risk
RS147932991
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148174338
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150598773
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1845890672
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1845894076
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS186684627
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373575422
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374350236
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112478479 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1267542305 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1362690516 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS141240817 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 5 |
| RS147932991 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148174338 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150598773 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1845890672 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1845894076 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS186684627 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373575422 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374350236 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376963969 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS531009160 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 5 |
| RS551588340 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563719298 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567857926 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS568880098 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, IFITM5-related disorder, Inborn genetic diseases |
| RS755699416 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755986012 | Health Risk | Conflicting classifications of pathogenicity | IFITM5-related disorder, Inborn genetic diseases, IFITM5-related disorder |
| RS763485576 | Health Risk | Conflicting classifications of pathogenicity | IFITM5-related disorder, Inborn genetic diseases, IFITM5-related disorder |
| RS768779464 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta type 5, Osteogenesis imperfecta type 5 |
| RS771942676 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS79625057 | Health Risk | Conflicting classifications of pathogenicity | Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS786201032 | Health Risk | Pathogenic/Likely pathogenic | Osteogenesis imperfecta type 5, IFITM5-related disorder, Osteogenesis imperfecta type 5 |