IFITM5 (interferon induced transmembrane protein 5)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
387733
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon induced transmembrane protein 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFITM5
Synonyms (NCBI Gene) Gene synonyms aliases
BRIL, DSPA1, Hrmp1, OI5, fragilis4
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez 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 si
SNPs SNP information provided by dbSNP.
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.
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
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614757 16644 ENSG00000206013
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Osteogenesis Imperfecta osteogenesis imperfecta type 5 rs786201032 N/A
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease 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