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Aliases for IFITM5 Gene

Aliases for IFITM5 Gene

  • Interferon Induced Transmembrane Protein 5 2 3 5
  • Bone-Restricted Interferon-Induced Transmembrane Protein-Like Protein 3 4
  • Dispanin Subfamily A Member 1 3 4
  • DSPA1 3 4
  • BRIL 3 4
  • Interferon-Induced Transmembrane Protein 5 3
  • 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 Dentinogenesis Imperfecta. An important paralog of this gene is IFITM3.

UniProtKB/Swiss-Prot for IFITM5 Gene

  • Required for normal bone mineralization.

Additional gene information for IFITM5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH11I000296 Enhancer 0.8 ENCODE 550.8 +1.8 1836 1.4 CTCF HDAC1 MEIS2 PKNOX1 LEF1 CTBP1 POLR2A NCOR1 VEZF1 ATF7 IFITM5 PGGHG ENSG00000255026 GC11M000282 GC11P000259
GH11I000299 Enhancer 0.5 ENCODE 550.8 -0.6 -550 0.2 CTCF TFAP4 GLIS1 DACH1 ZBTB33 ZIC2 IFITM5 PGGHG MRPS24P1 GC11M000282 GC11P000259
GH11I000300 Promoter 0.5 EPDnew 550.8 0.0 -20 0.1 IFITM5 MRPS24P1 GC11M000282 GC11P000259
GH11I000286 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.5 +10.9 10870 3.6 HDGF ATF1 RB1 ARNT NFRKB ZBTB40 ZNF335 ATF7 IKZF2 SMARCA5 PGGHG ENSG00000255026 IFITM5 PHRF1 GC11M000282 GC11P000259
GH11I000290 Enhancer 0.5 ENCODE dbSUPER 0.4 +8.5 8496 0.7 POLR2A PGGHG IFITM5 GC11P000259 GC11M000282
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IFITM5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFITM5 gene promoter:

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)

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 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

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

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

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

Function for IFITM5 Gene

Molecular function for IFITM5 Gene

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

miRNA for IFITM5 Gene

miRTarBase miRNAs that target IFITM5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for IFITM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
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

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:0007275 multicellular organism development IEA --
GO:0009607 response to biotic stimulus IEA --
GO:0030282 bone mineralization IEA,IMP 24519609
GO:0030500 regulation of bone mineralization IEA --
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:

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
ECgene alternative splicing isoforms for
IFITM5

Expression for IFITM5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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

NURSA nuclear receptor signaling pathways regulating expression of IFITM5 Gene:

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
Organs:
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 33 34
  • 98.48 (n)
cow
(Bos Taurus)
Mammalia IFITM5 33 34
  • 89.65 (n)
rat
(Rattus norvegicus)
Mammalia Ifitm5 33
  • 82.58 (n)
mouse
(Mus musculus)
Mammalia Ifitm5 33 16 34
  • 81.06 (n)
oppossum
(Monodelphis domestica)
Mammalia IFITM5 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFITM5 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFITM5 33 34
  • 66.67 (n)
lizard
(Anolis carolinensis)
Reptilia IFITM5 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498002 33
  • 59.41 (n)
zebrafish
(Danio rerio)
Actinopterygii ifitm5 34
  • 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)

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 Variation AA Info Type
rs531009160 pathogenic, Osteogenesis imperfecta type 5 299,391(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs587776916 pathogenic, Osteogenesis imperfecta type 5 299,504(-) G/A/C/T 5_prime_UTR_variant
rs786201032 pathogenic, Osteogenesis imperfecta type 5, not provided, Osteogenesis imperfecta 5 (OI5) [MIM:610967] 299,372(-) G/A coding_sequence_variant, missense_variant
rs139459814 uncertain-significance, not specified 298,565(-) G/A/C coding_sequence_variant, missense_variant
rs545346603 uncertain-significance, not specified 299,374(-) C/A/G coding_sequence_variant, missense_variant

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

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

- 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

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 58
  2. 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 58
  3. 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 58
  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 58
  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 58

Products for IFITM5 Gene

Sources for IFITM5 Gene

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