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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]
IFITM5 (Interferon Induced Transmembrane Protein 5) is a Protein Coding gene. Diseases associated with IFITM5 include Osteogenesis Imperfecta, Type V and Osteogenesis Imperfecta, Type Vi. An important paralog of this gene is IFITM2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J000297 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE CraniofacialAtlas | 608 | +0.7 | 725 | 5.2 | HNRNPL CREB1 CTCF LEF1 ZNF7 ZIC2 RBFOX2 PKNOX1 HDAC1 MNT | IFITM5 PGGHG ENSG00000255026 IFITM3 AP2A2 MN309314 | |
GH11J000286 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 11.5 | +10.6 | 10624 | 5 | ARHGAP35 HNRNPL IKZF1 ZNF692 BACH1 ZNF740 POLR2A EZH2 ELF4 GATAD2B | PGGHG ENSG00000255026 MN309314 lnc-IFITM5-1 IFITM5 PHRF1 | |
GH11J000301 | Enhancer | 0.3 | Ensembl | 0.7 | -2.5 | -2475 | 0.8 | ZBTB33 | ENSG00000254910 ENSG00000255108 ENSG00000255533 IFITM5 IFITM2 | |
GH11J000303 | Enhancer | 0.3 | ENCODE | 0.7 | -4.5 | -4545 | 0 | ZBTB33 | ENSG00000255533 MRPS24P1 IFITM2 IFITM5 | |
GH11J000291 | Enhancer | 0.3 | ENCODE | 0.4 | +7.8 | 7830 | 0.2 | POLR2A POU5F1 | MN309314 PGGHG IFITM5 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0005887 | integral component of plasma membrane | IDA | 24519609 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0030282 | bone mineralization | IMP | 24519609 |
GO:0030500 | regulation of bone mineralization | IEA | -- |
GO:0060349 | bone morphogenesis | IMP | 24519609 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IFITM5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IFITM5 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ifitm5 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ifitm5 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IFITM5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IFITM5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IFITM5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IFITM5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498002 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ifitm5 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
667612 | Benign: not provided | 299,749(-) | G/A | ||
667613 | Benign: not provided | 299,719(-) | T/A | ||
669653 | Benign: not provided | 299,091(-) | G/C | INTRON_VARIANT | |
674885 | Benign: not provided | 299,586(-) | A/G | ||
674990 | Benign: not provided | 299,219(-) | C/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1012n100 | CNV | gain | 25217958 |
dgv1505n54 | CNV | gain | 21841781 |
esv3625066 | CNV | loss | 21293372 |
esv3891905 | CNV | gain | 25118596 |
nsv1052484 | CNV | gain | 25217958 |
nsv527327 | CNV | loss | 19592680 |
nsv552765 | CNV | gain | 21841781 |
nsv7212 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteogenesis imperfecta, type v |
|
|
osteogenesis imperfecta, type vi |
|
|
dentinogenesis imperfecta |
|
|
bruck syndrome |
|
|
brittle bone disorder |
|
|