Human Gene IFITM5 (uc001low.2)
  Description: Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA.
RefSeq Summary (NM_001025295): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:298,201-299,526 Size: 1,326 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr11:298,501-299,490 Size: 990 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:298,201-299,526)mRNA (may differ from genome)Protein (132 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IFM5_HUMAN
DESCRIPTION: RecName: Full=Interferon-induced transmembrane protein 5; AltName: Full=Bone-restricted interferon-induced transmembrane protein-like protein; Short=BRIL; AltName: Full=Dispanin subfamily A member 1; Short=DSPA1;
FUNCTION: Plays a role in bone mineralization (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein (By similarity).
SIMILARITY: Belongs to the CD225/Dispanin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IFITM5
Diseases sorted by gene-association score: osteogenesis imperfecta, type v* (1689), ifitm5-related osteogenesis imperfecta* (200), osteogenesis imperfecta (26), osteogenesis imperfecta, type vi (9), dentinogenesis imperfecta (8), bone development disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.82 RPKM in Pancreas
Total median expression: 3.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.4036-0.206 Picture PostScript Text
3' UTR -116.22300-0.387 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007593 - Interferon-induced_TM_protein

Pfam Domains:
PF04505 - Interferon-induced transmembrane protein

ModBase Predicted Comparative 3D Structure on A6NNB3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0001701 in utero embryonic development
GO:0007275 multicellular organism development
GO:0009607 response to biotic stimulus
GO:0030282 bone mineralization
GO:0030500 regulation of bone mineralization
GO:0060349 bone morphogenesis

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC156100 - Synthetic construct Homo sapiens clone IMAGE:100062348, MGC:190475 interferon induced transmembrane protein 5 (IFITM5) mRNA, encodes complete protein.
BC156992 - Synthetic construct Homo sapiens clone IMAGE:100062837, MGC:190629 interferon induced transmembrane protein 5 (IFITM5) mRNA, encodes complete protein.
BC150562 - Homo sapiens interferon induced transmembrane protein 5, mRNA (cDNA clone MGC:179712 IMAGE:40127610), complete cds.
BC150563 - Homo sapiens interferon induced transmembrane protein 5, mRNA (cDNA clone MGC:179713 IMAGE:40127611), complete cds.
JD406937 - Sequence 387961 from Patent EP1572962.
JD181257 - Sequence 162281 from Patent EP1572962.
JD320068 - Sequence 301092 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NNB3, IFM5_HUMAN, NM_001025295, NP_001020466, uc001low.1
UCSC ID: uc001low.2
RefSeq Accession: NM_001025295
Protein: A6NNB3 (aka IFM5_HUMAN)
CCDS: CCDS31323.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001025295.2
exon count: 2CDS single in 3' UTR: no RNA size: 751
ORF size: 399CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 998.00frame shift in genome: no % Coverage: 97.87
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.