IFITM5 (interferon induced transmembrane protein 5)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 387733
Gene name Interferon induced transmembrane protein 5
Gene symbol IFITM5
Synonyms (NCBI Gene)
BRILDSPA1Hrmp1OI5fragilis4
Chromosome 11
Chromosome location 11p15.5
Summary 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 si
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs531009160 G>A,C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, stop gained
rs587776916 G>A,C,T Pathogenic 5 prime UTR variant
rs786201032 G>A,C Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs1267542305 C>T Conflicting-interpretations-of-pathogenicity Intron variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT054902 hsa-miR-762 Luciferase reporter assay 25343121
MIRT054902 hsa-miR-762 Luciferase reporter assay 25343121
MIRT2389268 hsa-miR-4688 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
GLI2 Activation 23530031
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001701 Process In utero embryonic development IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 24519609
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614757 16644 ENSG00000206013
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6NNB3
Protein name Interferon-induced transmembrane protein 5 (Bone-restricted interferon-induced transmembrane protein-like protein) (BRIL) (Dispanin subfamily A member 1) (DSPA1)
Protein function Required for normal bone mineralization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04505 CD225 31 → 100 Interferon-induced transmembrane protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in osteoblasts and fibroblasts (at protein level) (PubMed:24519609). Detected in bone (PubMed:24058703). {ECO:0000269|PubMed:24058703, ECO:0000269|PubMed:24519609}.
Sequence 
MDTAYPREDTRAPTPSKAGAHTALTLGAPHPPPRDHLIWSVFSTLYLNLCCLGFLALAYS
IKARDQKVVGDLEAARRFGSKAKCYNILAAMWTLVPPLLLLGLVVTGALHLARLAKDSAA
FFSTKFDDADYD
Sequence length 132
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
IFITM5-related disorder Pathogenic rs786201032 RCV004757968
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 5 Pathogenic; Likely pathogenic rs786201032 RCV000162330
RCV000850247
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
OSTEOGENESIS IMPERFECTA, TYPE V — CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bone Diseases Bone disease Pubtator 30289614 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis Membranous Membranous glomerulonephritis Pubtator 23408678 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 24293101 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hearing Loss Hearing loss Pubtator 23408678 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28123530
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteogenesis Imperfecta Osteogenesis Imperfecta BEFREE 23674381, 24293101, 24478195, 24519609, 24674092, 24715519, 25046257, 26031935, 28548288, 28880886, 29104038, 29174564, 30039845, 30593885, 31159867
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis Imperfecta Osteogenesis imperfecta Pubtator 23674381, 24293101, 25387264, 30289614, 31363794, 34156493, 35052464, 37730650 Associate
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Osteogenesis imperfecta type 5 Osteogenesis Imperfecta Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteogenesis imperfecta type 6 Osteogenesis imperfecta Pubtator 24519609 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only