| Type | Description |
|---|---|
| Definition | interferon induced transmembrane protein 5 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-21 12:23:00 | We suggest that all patients negative for COL1A1/2 pathogenic variants be tested for the presence of an IFITM5 pathogenic variant, even if they are not expressing typical osteogenesis imperfecta V symptoms. | 31159867 |
| 2015-08-22 11:26:00 | Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect. | 24478195 |
| 2015-01-24 11:29:00 | The point mutation, c.-14C>T in the 5'-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients. | 23977282 |
| 2014-11-08 12:49:00 | The IFITM5 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. | 24674092 |
| 2013-11-16 10:28:00 | 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. | 23408678 |
| Type | IDs |
|---|---|
| Synonymous | BRIL, DSPA1, Hrmp1, OI5, fragilis4 |
| Gene |
UniProtKB-ID:
IFM5_HUMAN
UniprotKB:
A6NNB3
UniParc:
UPI0000161610
EMBL:
BC150562,
BC150563,
CH471278
Ensembl:
ENSG00000206013
KO:
hsa:387733
|
| Nucleutide sequences |
EMBL-CDS:
AAI50564.1,
EAW61222.1,
AAI50563.1
Ensembl_TRS:
ENST00000382614
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000372059
RefSeq:
NP_001020466.1
|
| Others |
UniRef100:
UniRef100_A6NNB3
UniRef90:
UniRef90_A6NNB3
UniRef50:
UniRef50_O88728
UniGene:
Hs.443469
CCDS:
CCDS31323.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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