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Aliases for IFITM5 Gene

Aliases for IFITM5 Gene

  • Interferon Induced Transmembrane Protein 5 2 3
  • Bone-Restricted Interferon-Induced Transmembrane Protein-Like Protein 3 4
  • Dispanin Subfamily A Member 1 3 4
  • DSPA1 3 4
  • BRIL 3 4
  • Bone-Restricted Ifitm-Like Protein 3
  • Fragilis4 3
  • Hrmp1 3
  • OI5 3

External Ids for IFITM5 Gene

Previous GeneCards Identifiers for IFITM5 Gene

  • GC11M000291
  • GC11M000124

Summaries for IFITM5 Gene

Entrez Gene Summary for IFITM5 Gene

  • 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]

GeneCards Summary for IFITM5 Gene

IFITM5 (Interferon Induced Transmembrane Protein 5) is a Protein Coding gene. Diseases associated with IFITM5 include ifitm5-related osteogenesis imperfecta and osteogenesis imperfecta, type v. An important paralog of this gene is IFITM1.

UniProtKB/Swiss-Prot for IFITM5 Gene

  • Required for normal bone mineralization.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFITM5 Gene

Genomics for IFITM5 Gene

Regulatory Elements for IFITM5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IFITM5 Gene

Chromosome:
11
Start:
298,200 bp from pter
End:
299,526 bp from pter
Size:
1,327 bases
Orientation:
Minus strand

Genomic View for IFITM5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFITM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFITM5 Gene

Proteins for IFITM5 Gene

  • Protein details for IFITM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NNB3-IFM5_HUMAN
    Recommended name:
    Interferon-induced transmembrane protein 5
    Protein Accession:
    A6NNB3

    Protein attributes for IFITM5 Gene

    Size:
    132 amino acids
    Molecular mass:
    14378 Da
    Quaternary structure:
    • Interacts with FKBP11.

neXtProt entry for IFITM5 Gene

Proteomics data for IFITM5 Gene at MOPED

Post-translational modifications for IFITM5 Gene

Other Protein References for IFITM5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for IFITM5 Gene

Domains & Families for IFITM5 Gene

Protein Domains for IFITM5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFITM5 Gene

Graphical View of Domain Structure for InterPro Entry

A6NNB3

UniProtKB/Swiss-Prot:

IFM5_HUMAN :
  • Belongs to the CD225/Dispanin family.
Family:
  • Belongs to the CD225/Dispanin family.
genes like me logo Genes that share domains with IFITM5: view

No data available for Gene Families for IFITM5 Gene

Function for IFITM5 Gene

Molecular function for IFITM5 Gene

UniProtKB/Swiss-Prot Function:
Required for normal bone mineralization.

Phenotypes for IFITM5 Gene

GenomeRNAi human phenotypes for IFITM5:
genes like me logo Genes that share phenotypes with IFITM5: view

Animal Model Products

miRNA for IFITM5 Gene

miRTarBase miRNAs that target IFITM5

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFITM5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for IFITM5 Gene

Localization for IFITM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFITM5 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFITM5 Gene COMPARTMENTS Subcellular localization image for IFITM5 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for IFITM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane --
GO:0005887 integral component of plasma membrane IDA 24519609
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with IFITM5: view

Pathways & Interactions for IFITM5 Gene

SuperPathways for IFITM5 Gene

No Data Available

Interacting Proteins for IFITM5 Gene

Gene Ontology (GO) - Biological Process for IFITM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0009607 response to biotic stimulus IEA --
GO:0030282 bone mineralization IMP 24519609
GO:0030500 regulation of bone mineralization IEA --
GO:0060349 bone morphogenesis IMP 24519609
genes like me logo Genes that share ontologies with IFITM5: view

No data available for Pathways by source and SIGNOR curated interactions for IFITM5 Gene

Drugs & Compounds for IFITM5 Gene

No Compound Related Data Available

Transcripts for IFITM5 Gene

mRNA/cDNA for IFITM5 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IFITM5 Gene

Interferon induced transmembrane protein 5:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFITM5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFITM5 Gene

No ASD Table

Relevant External Links for IFITM5 Gene

GeneLoc Exon Structure for
IFITM5
ECgene alternative splicing isoforms for
IFITM5

Expression for IFITM5 Gene

mRNA expression in normal human tissues for IFITM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IFITM5 Gene

This gene is overexpressed in Pancreas (x32.7).

Protein differential expression in normal tissues from HIPED for IFITM5 Gene

This gene is overexpressed in Stomach (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IFITM5 Gene



SOURCE GeneReport for Unigene cluster for IFITM5 Gene Hs.443469

mRNA Expression by UniProt/SwissProt for IFITM5 Gene

A6NNB3-IFM5_HUMAN
Tissue specificity: Detected in bone (PubMed:24058703). Detected in osteoblasts and fibroblasts (at protein level) (PubMed:24519609). Detected in bone (PubMed:24058703). Detected in osteoblasts and fibroblasts (PubMed:24519609).
genes like me logo Genes that share expression patterns with IFITM5: view

Protein tissue co-expression partners for IFITM5 Gene

Primer Products

In Situ Assay Products

Orthologs for IFITM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IFITM5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IFITM5 35
  • 89.65 (n)
  • 89.39 (a)
IFITM5 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ifitm5 35
  • 81.06 (n)
  • 79.55 (a)
Ifitm5 16
Ifitm5 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IFITM5 35
  • 98.48 (n)
  • 99.24 (a)
IFITM5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ifitm5 35
  • 82.58 (n)
  • 81.06 (a)
oppossum
(Monodelphis domestica)
Mammalia IFITM5 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFITM5 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFITM5 35
  • 66.67 (n)
  • 59.06 (a)
IFITM5 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFITM5 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498002 35
  • 59.41 (n)
  • 54.03 (a)
zebrafish
(Danio rerio)
Actinopterygii ifitm5 36
  • 43 (a)
OneToOne
Species with no ortholog for IFITM5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IFITM5 Gene

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

Paralogs for IFITM5 Gene

Paralogs for IFITM5 Gene

(4) SIMAP similar genes for IFITM5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with IFITM5: view

Variants for IFITM5 Gene

Sequence variations from dbSNP and Humsavar for IFITM5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs2293743 -- 298,224(+) TTAAT(C/T)GTGGA utr-variant-3-prime
rs2293744 -- 298,316(+) GACCC(C/T)GGGGT utr-variant-3-prime
rs2293745 -- 298,758(+) TCCTC(A/G)GGGCC intron-variant
rs3817640 -- 297,970(+) GAGAT(C/T)AAAGG downstream-variant-500B
rs4758636 -- 299,091(+) ACCCC(C/G)TTAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFITM5 Gene

Variant ID Type Subtype PubMed ID
dgv911n71 CNV Gain 21882294
nsv896440 CNV Gain 21882294
nsv896447 CNV Loss 21882294
dgv913n71 CNV Loss 21882294
dgv914n71 CNV Loss 21882294
dgv915n71 CNV Loss 21882294
nsv7212 OTHER Inversion 18451855
dgv916n71 CNV Loss 21882294
dgv917n71 CNV Loss 21882294
nsv896463 CNV Gain 21882294
nsv527327 CNV Loss 19592680

Variation tolerance for IFITM5 Gene

Residual Variation Intolerance Score: 84.82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFITM5 Gene

HapMap Linkage Disequilibrium report
IFITM5
Human Gene Mutation Database (HGMD)
IFITM5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFITM5 Gene

Disorders for IFITM5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IFITM5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ifitm5-related osteogenesis imperfecta
osteogenesis imperfecta, type v
  • osteogenesis imperfecta type 5
osteogenesis imperfecta, type vi
  • osteogenesis imperfecta type 6
osteogenesis imperfecta
  • lobstein's syndrome
- elite association

UniProtKB/Swiss-Prot

IFM5_HUMAN
  • Osteogenesis imperfecta 5 (OI5) [MIM:610967]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. {ECO:0000269 PubMed:22863190}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IFITM5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFITM5
genes like me logo Genes that share disorders with IFITM5: view

No data available for Genatlas for IFITM5 Gene

Publications for IFITM5 Gene

  1. Bril: a novel bone-specific modulator of mineralization. (PMID: 18442316) Moffatt P. … Thomas G. (J. Bone Miner. Res. 2008) 2 67
  2. The fragilis interferon-inducible gene family of transmembrane proteins is associated with germ cell specification in mice. (PMID: 12659663) Lange U.C. … Surani M.A. (BMC Dev. Biol. 2003) 2 67
  3. Differentiating embryonal stem cells are a rich source of haemopoietic gene products and suggest erythroid preconditioning of primitive haemopoietic stem cells. (PMID: 11106657) Baird J.W. … Graham G.J. (J. Biol. Chem. 2001) 2 67
  4. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. (PMID: 24519609) Farber C.R. … Marini J.C. (J. Bone Miner. Res. 2014) 67
  5. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. (PMID: 24478195) GuillAcn-Navarro E. … Ruiz-Perez V.L. (Am. J. Med. Genet. A 2014) 67

Products for IFITM5 Gene

Sources for IFITM5 Gene

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