IFITM5 Gene (Protein Coding)

Interferon Induced Transmembrane Protein 5

GC11M000298
GIFtS:
35
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. Th... See more...

Aliases for IFITM5 Gene

Aliases for IFITM5 Gene

  • Interferon Induced Transmembrane Protein 5 2 3 5
  • Dispanin Subfamily A Member 1 2 3 4
  • Bone-Restricted Interferon-Induced Transmembrane Protein-Like Protein 3 4
  • Interferon-Induced Transmembrane Protein 5 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 Osteogenesis Imperfecta, Type V and Osteogenesis Imperfecta, Type Vi. An important paralog of this gene is IFITM1.

UniProtKB/Swiss-Prot Summary for IFITM5 Gene

Additional gene information for IFITM5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFITM5 Gene

Genomics for IFITM5 Gene

GeneHancer (GH) Regulatory Elements for IFITM5 Gene

Promoters and enhancers for IFITM5 Gene
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 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 508 +0.7 725 5.2 CTCF NRF1 ZIC2 MYC RUNX1 CTBP1 HINFP EZH2 LEF1 NCOR1 IFITM5 PGGHG ENSG00000255026 IFITM3 AP2A2 lnc-IFITM5-1
GH11J000286 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +10.6 10624 5 HNRNPK ZBTB40 NRF1 POLR2G PHF8 POLR2A AFF1 ZBTB26 TARDBP ZNF740 PGGHG ENSG00000255026 lnc-IFITM5-1 IFITM5
GH11J000291 Enhancer 0.4 ENCODE 0.4 +7.8 7830 0.2 GABPA REST POU5F1 POLR2A RBBP5 PGGHG lnc-IFITM5-1 IFITM5
GH11J000303 Enhancer 0.3 ENCODE 0.7 -4.5 -4545 0 ZBTB33 ENSG00000255533 MRPS24P1 IFITM5
GH11J000301 Enhancer 0.3 Ensembl 0.7 -2.5 -2475 0.8 ZBTB33 ENSG00000254910 ENSG00000255108 ENSG00000255533 IFITM5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFITM5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFITM5

Top Transcription factor binding sites by QIAGEN in the IFITM5 gene promoter:
  • c-Ets-1
  • E47
  • Elk-1
  • STAT1
  • STAT3
  • Tal-1beta
  • ZID

Genomic Locations for IFITM5 Gene

Genomic Locations for IFITM5 Gene
chr11:298,200-299,526
(GRCh38/hg38)
Size:
1,327 bases
Orientation:
Minus strand
chr11:298,200-299,526
(GRCh37/hg19)
Size:
1,327 bases
Orientation:
Minus strand

Genomic View for IFITM5 Gene

Genes around IFITM5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFITM5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFITM5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IFITM5 Gene

Proteins for IFITM5 Gene

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  3. Assay

  • 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

Protein Expression for IFITM5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IFITM5 Gene

Other Protein References for IFITM5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IFITM5 Gene

Domains & Families for IFITM5 Gene

Gene Families for IFITM5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for IFITM5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFITM5 Gene

GenScript: Design optimal peptide antigens:
  • Bone-restricted interferon-induced transmembrane protein-like protein (IFM5_HUMAN)

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

Function for IFITM5 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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Molecular function for IFITM5 Gene

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

Phenotypes From GWAS Catalog for IFITM5 Gene

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

Human Phenotype Ontology for IFITM5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFITM5 Gene

MGI Knock Outs for IFITM5:

Animal Model Products

CRISPR Products

miRNA for IFITM5 Gene

miRTarBase miRNAs that target IFITM5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFITM5 gene
Compartment Confidence
plasma membrane 5
extracellular 3
endosome 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for IFITM5 Gene

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 --
genes like me logo Genes that share ontologies with IFITM5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IFITM5 Gene

Pathways & Interactions for IFITM5 Gene

PathCards logo

SuperPathways for IFITM5 Gene

No Data Available

Interacting Proteins for IFITM5 Gene

;

SIGNOR curated interactions for IFITM5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IFITM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
genes like me logo Genes that share ontologies with IFITM5: view

No data available for Pathways by source for IFITM5 Gene

Drugs & Compounds for IFITM5 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for IFITM5 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IFITM5 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for IFITM5 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IFITM5 Gene

mRNA expression in normal human tissues for IFITM5 Gene
mRNA expression by GTEx for IFITM5 GenemRNA expression by BioGPS 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



Protein tissue co-expression partners for IFITM5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IFITM5

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).

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFITM5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • cheek
  • chin
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IFITM5: view

No data available for Evidence on tissue expression from TISSUES for IFITM5 Gene

Orthologs for IFITM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IFITM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia IFITM5 31 30
  • 98.48 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia IFITM5 31 30
  • 89.65 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ifitm5 30
  • 82.58 (n)
mouse
(Mus musculus)
 Mammalia Ifitm5 17 31 30
  • 81.06 (n)
oppossum
(Monodelphis domestica)
 Mammalia IFITM5 31
  • 71 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia IFITM5 31
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves IFITM5 31 30
  • 66.67 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia IFITM5 31
  • 56 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100498002 30
  • 59.41 (n)
zebrafish
(Danio rerio)
 Actinopterygii ifitm5 31
  • 43 (a)
 OneToOne
Species where no ortholog for IFITM5 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IFITM5: view image

Paralogs for IFITM5 Gene

Paralogs for IFITM5 Gene

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

  • IFM5_HUMAN
genes like me logo Genes that share paralogs with IFITM5: view

Variants for IFITM5 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFITM5 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
594163 Uncertain Significance: not provided 299,460(-) G/A MISSENSE_VARIANT
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

Additional dbSNP identifiers (rs#s) for IFITM5 Gene

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

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

Variation tolerance for IFITM5 Gene

Residual Variation Intolerance Score: 84.8% 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)

Additional Variant Information for IFITM5 Gene

Human Gene Mutation Database (HGMD)
IFITM5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFITM5

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

Disorders for IFITM5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for IFITM5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type v
  • oi5
osteogenesis imperfecta, type vi
  • oi6
dentinogenesis imperfecta
  • di
cole-carpenter syndrome
  • bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
bruck syndrome
  • osteogenesis imperfecta with congenital joint contractures
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:24519609}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IFITM5

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

No data available for Genatlas for IFITM5 Gene

Publications for IFITM5 Gene

  1. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. (PMID: 24519609) Farber CR … Marini JC (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2014) 3 4 54
  2. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. (PMID: 22863190) Cho TJ … Kim JW (American journal of human genetics 2012) 3 4 54
  3. The dispanins: a novel gene family of ancient origin that contains 14 human members. (PMID: 22363774) Sällman Almén M … Schiöth HB (PloS one 2012) 3 4 54
  4. Bril: a novel bone-specific modulator of mineralization. (PMID: 18442316) Moffatt P … Thomas G (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008) 2 3 54
  5. The fragilis interferon-inducible gene family of transmembrane proteins is associated with germ cell specification in mice. (PMID: 12659663) Lange UC … Surani MA (BMC developmental biology 2003) 2 3 54

ExternalLinks

View latest publications for IFITM5 gene in Mastermind

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