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.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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
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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
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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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
IFITM5-related disorder Pathogenic rs786201032 RCV004757968
Osteogenesis imperfecta type 5 Pathogenic; Likely pathogenic rs786201032 RCV000162330
RCV000850247
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Osteogenesis imperfecta Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs1362690516, rs568880098, rs775669597, rs781543593, rs552104680, rs79625057, rs372443030, rs144153945 RCV002276859
RCV002277007
RCV002276996
RCV002277794
RCV002277795
RCV002277325
RCV002279377
RCV002279420
RCV002279636
Ovarian serous cystadenocarcinoma Benign rs113160876 RCV005900007
Uterine corpus endometrial carcinoma Benign rs113160876 RCV005900008
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 30289614
Campomelia Cumming type Associate 23408678
Cranial Nerve Diseases Associate 34156493
Doughnut Lesions of Skull Familial Associate 34156493
Glomerulonephritis Membranous Associate 23408678
Growth Disorders Associate 24293101
Hearing Loss Associate 23408678
Infant Newborn Diseases Associate 32383316
Kimura Disease Associate 22863195, 23408678, 31159867, 34156493
Kimura Disease Stimulate 34156493