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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IFITM5 Gene

protein-coding   GIFtS: 43
GCID: GC11M000298

interferon induced transmembrane protein 5
 Explore 1 disease affiliated with
IFITM5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IFITM5    

Aliases
for IFITM5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Interferon Induced Transmembrane Protein 51 2     Dispanin Subfamily A Member 12 3
BRIL1 2 3     DSPA12 3
Hrmp11 2     OI52
Fragilis41     Bone-Restricted Ifitm-Like Protein2
Bone-Restricted Interferon-Induced Transmembrane Protein-Like Protein2 3     Interferon-Induced Transmembrane Protein 52

External Ids:    HGNC: 166441   Entrez Gene: 3877332   Ensembl: ENSG000002060137   OMIM: 6147575   UniProtKB: A6NNB33   

Export aliases for IFITM5 gene to outside databases

Previous GC identifers: GC11M000291 GC11M000124


Summaries
for IFITM5 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for IFITM5:
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)

UniProtKB/Swiss-Prot: IFM5_HUMAN, A6NNB3
Function: Plays a role in bone mineralization (By similarity)




Genomic Views
for IFITM5 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IFITM5 gene promoter:
         Elk-1   STAT1   STAT3   ZID   Tal-1beta   E47   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IFITM5 promoter sequence
   Search SABiosciences Chromatin IP Primers for IFITM5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFITM5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

IFITM5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFITM5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M000298:  view genomic region     (about GC identifiers)

Start:
 298,200 bp from pter      End:
 299,526 bp from pter
Size:
 1,327 bases      Orientation:
 minus strand

Proteins
for IFITM5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: IFM5_HUMAN, A6NNB3 (See protein sequence)
Recommended Name: Interferon-induced transmembrane protein 5  
Size: 132 amino acids; 14378 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity)

Explore the universe of human proteins at neXtProt for IFITM5: NX_A6NNB3

IFITM5 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_001020466.1  
ENSEMBL proteins: 
 ENSP00000372059  

Human Recombinant Protein Products: 
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Uscn Proteins for IFITM5

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane IEA--
GO:0016021integral to membrane IEA--


IFITM5 for ontologies           About GeneDecksing



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Protein Domains /
Families
for IFITM5 gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
IFITM5 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR007593 Interferon-induced_TM_protein

Graphical View of Domain Structure for InterPro Entry A6NNB3

ProtoNet protein and cluster: A6NNB3

UniProtKB/Swiss-Prot: IFM5_HUMAN, A6NNB3
Similarity: Belongs to the CD225/Dispanin family


Function
for IFITM5 gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     UniProtKB/Swiss-Prot: IFM5_HUMAN, A6NNB3
Function: Plays a role in bone mineralization (By similarity)

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IFITM5
1 QIAGEN miScript miRNA Assays for microRNA that regulate IFITM5:
hsa-miR-1207-5p
SwitchGear 3'UTR luciferase reporter plasmid: IFITM5 3' UTR sequence
Inhib. RNA
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OriGene shRNA RFP: IFITM5
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Gene Editing
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Clone
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFITM5 

Cell Line
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Search LifeMap BioReagents cell lines for IFITM5

In Situ Assay
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Pathways & Interactions
for IFITM5 gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IFITM5

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007275multicellular organismal development IEA--
GO:0009607response to biotic stimulus IEA--
GO:0030500regulation of bone mineralization IEA--


IFITM5 for ontologies           About GeneDecksing



Drugs & Compounds
for IFITM5 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IFITM5
Search CenterWatch for drugs/clinical trials and news about IFITM5 / IFM5 

Transcripts
for IFITM5 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
REFSEQ mRNAs for IFITM5 gene: 
NM_001025295.2  

Unigene Cluster for IFITM5:

Interferon induced transmembrane protein 5
Hs.443469  [show with all ESTs]
Unigene Representative Sequence: NM_001025295
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000382614(uc001low.1)

miRNA
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1 QIAGEN miScript miRNA Assays for microRNA that regulate IFITM5:
hsa-miR-1207-5p
SwitchGear 3'UTR luciferase reporter plasmid: IFITM5 3' UTR sequence
Inhib. RNA
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OriGene shRNA RFP: IFITM5
OriGene siRNA: IFITM5
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IFITM5
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for IFITM5
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
GenScript: all cDNA clones in your preferred vector: IFITM5 (NM_001025295)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFITM5 
Primer
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Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat IFITM5
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFITM5
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFITM5

Additional cDNA sequence: 

BC150562.1 BC150563.1 

1 DOTS entry:

DT.40120733 

3 AceView cDNA sequences:

AA460254 BQ574249 AA463818 

GeneLoc Exon Structure


Expression
for IFITM5 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IFITM5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCACCTAAG

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image

IFITM5 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
3 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
BoneZeugopod Growth PlateBone
BoneZeugopod PeriosteumBone
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See IFITM5 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.443469
    SABiosciences Custom PCR Arrays for IFITM5
Primer
Products:		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for IFITM5
Browse OriGene validated miRNA SYBR primer pairs
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IFITM5
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFITM5
In Situ
Assay Products: 
 		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for IFITM5

Orthologs
for IFITM5 gene

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section
This gene was present in the common ancestor of chordates.

Orthologs for IFITM5 gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification		 Gene Description Human
Similarity		 Orthology
Type		 Details
chicken
(Gallus gallus)		 Aves IFITM51 interferon induced transmembrane protein 5 66.67(n)
59.06(a)		   422992  NM_001199498.1  NP_001186427.1 
lizard
(Anolis carolinensis)		 Reptilia IFITM56
 --
 55(a)
 1 ↔ 1
 1(77015695-77023314)
zebrafish
(Danio rerio)		 Actinopterygii 570924022   -- 73.5(n)    57092402 


ENSEMBL Gene Tree for IFITM5 (if available)
TreeFam Gene Tree for IFITM5 (if available) 

Paralogs
for IFITM5 gene

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for IFITM5 gene
IFITM12  IFITM32  IFITM22  IFITM102  
4 SIMAP similar genes for IFITM5 using alignment to 1 protein entry:     IFM5_HUMAN:
IFITM10    IFITM1    IFITM2    IFITM3

IFITM5 for paralogs           About GeneDecksing



Genomic Variants
for IFITM5 gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/102 NCBI SNPs in IFITM5 are shown (see all 102)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 11 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs1156211711,2
C,F,--117736(+) ACTTTC/TTGGAA 1 -- ut311Minor allele frequency- T:0.03WA 118
rs22937431,2
C,F,H,--117757(+) TTAATC/TGTGGA 1 -- ut31 ese320Minor allele frequency- T:0.06EA NS NA WA 4152
rs1139499761,2
C,F--118166(+) ATCGCA/C/GGCCAG 3 A syn12CSA NA 4485
rs112460581,2
A,--118752(+) CCCCCC/AACGGA 1 -- int13Minor allele frequency- A:0.04NA WA 122
rs128039551,2
C--119039(+) GCCGTA/CTCTTC 1 -- ut51 ese30--------
rs618762351,2
C,--119150(+) CCTGCG/AGGCCG 1 -- us2k13Minor allele frequency- A:0.16NA 124
rs1129619151,2
C,--119282(+) CGGCCG/AGGCAG 1 -- us2k12Minor allele frequency- A:0.35NA 122
rs772858051,2
F,--119438(+) GGATGT/CACAGG 1 -- us2k11Minor allele frequency- C:0.03WA 118
rs116031421,2
C,F,H,--119761(+) CTCGGC/GTGCCC 1 -- us2k13Minor allele frequency- G:0.34NA 124
rs728677331,2
C,--120751(+) CGCCCG/AGCTAG 1 -- us2k13Minor allele frequency- A:0.15NA EA 242

HapMap Linkage Disequilibrium report for IFITM5 (298200 - 299526 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for IFITM5
     1 Inversion: 37118
Human Gene Mutation Database (HGMD): IFITM5

Locus Specific Mutation Databases (LSDB): IFITM5

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IFITM5
DNA2.0 Custom Variant and Variant Library Synthesis for IFITM5

Disorders / Diseases
for IFITM5 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
IFITM5 for disorders           About GeneDecksing

OMIM gene information: 614757    OMIM disorders: --

UniProtKB/Swiss-Prot: IFM5_HUMAN, A6NNB3
  • Defects in IFITM5 are the cause of osteogenesis imperfecta 5 (OI5) [MIM:610967]. An autosomal dominant form of
    • osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility, low bone mass, and recurrent
    fractures. OI5 is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a
    subphyseal metaphyseal radiodense line, and hyperplastic callus formation

    1 disease for IFITM5:    About MalaCards
    osteogenesis imperfecta

    1 disease from the University of Copenhagen DISEASES database for IFITM5:
    Osteogenesis imperfecta

    Export disorders for IFITM5 gene to outside databases

    Publications
    for IFITM5 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IFITM5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with IFITM5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The dispanins: a novel gene family of ancient origin that contains 14 human members. (PubMed id 22363774)1, 2 Sallman Almen M.... Schioth H.B. (2012)
    2. A single recurrent mutation in the 5'-UTR of IFITM5 ca uses osteogenesis imperfecta type V. (PubMed id 22863190)1, 2 Cho T.J....Kim J.W. (2012)
    3. Bril: a novel bone-specific modulator of mineralizati on. (PubMed id 18442316)1, 3 Moffatt P....Thomas G. (2008)
    4. The fragilis interferon-inducible gene family of transmembrane proteins is associated with germ cell specification in mice. (PubMed id 12659663)1, 3 Lange U.C....Surani M.A. (2003)
    5. Differentiating embryonal stem cells are a rich source of haemopoietic gene products and suggest erythroid preconditioning of primitive haemopoietic stem cells. (PubMed id 11106657)1, 3 Baird J.W....Graham G.J. (2001)
    6. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with h yperplastic callus. (PubMed id 22863195)1 Semler O....Netzer C. (2012)
    7. The small interferon-induced transmembrane genes and p roteins. (PubMed id 21166591)1 Siegrist F....Certa U. (2011)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    External Searches for IFITM5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IFITM5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 387733 HGNC: 16644 AceView: LOC387733 Ensembl:ENSG00000206013 euGenes: HUgn387733
    ECgene: IFITM5 H-InvDB: IFITM5

    Other Databases showing IFITM5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IFITM5 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IFITM5 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for IFITM5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for IFITM5 gene:
    Search GeneIP for patents involving IFITM5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for IFITM5 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
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    von Willebrand factor
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