IFITM5
geneOn this page
Also known as fragilis4Hrmp1BRILDSPA1
Summary
IFITM5 (interferon induced transmembrane protein 5, HGNC:16644) is a protein-coding gene on chromosome 11p15.5, encoding Interferon-induced transmembrane protein 5 (A6NNB3). Required for normal bone mineralization.
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).
Source: NCBI Gene 387733 — RefSeq curated summary.
At a glance
- Gene–disease (curated): osteogenesis imperfecta type 5 (Definitive, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 181 total — 2 pathogenic
- Phenotypes (HPO): 20
- MANE Select transcript:
NM_001025295
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16644 |
| Approved symbol | IFITM5 |
| Name | interferon induced transmembrane protein 5 |
| Location | 11p15.5 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | fragilis4, Hrmp1, BRIL, DSPA1 |
| Ensembl gene | ENSG00000206013 |
| Ensembl biotype | protein_coding |
| OMIM | 614757 |
| Entrez | 387733 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000382614
RefSeq mRNA: 1 — MANE Select: NM_001025295
NM_001025295
CCDS: CCDS31323
Canonical transcript exons
ENST00000382614 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001492770 | 298200 | 298713 |
| ENSE00001492773 | 299305 | 299526 |
Expression profiles
Bgee: expression breadth broad, 83 present calls, max score 76.19.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 17.9365 / max 1920.3394, expressed in 63 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 117735 | 17.9365 | 63 |
Top tissues by expression
111 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 76.19 | gold quality |
| granulocyte | CL:0000094 | 61.46 | gold quality |
| blood | UBERON:0000178 | 59.68 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 59.45 | gold quality |
| pancreas | UBERON:0001264 | 59.33 | gold quality |
| bone marrow cell | CL:0002092 | 55.49 | gold quality |
| bone marrow | UBERON:0002371 | 52.26 | gold quality |
| mucosa of stomach | UBERON:0001199 | 51.34 | gold quality |
| right lung | UBERON:0002167 | 50.85 | gold quality |
| right coronary artery | UBERON:0001625 | 49.28 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 48.10 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 48.06 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 45.55 | gold quality |
| lung | UBERON:0002048 | 45.23 | gold quality |
| right lobe of liver | UBERON:0001114 | 45.16 | gold quality |
| small intestine | UBERON:0002108 | 44.85 | gold quality |
| metanephros cortex | UBERON:0010533 | 43.73 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 43.67 | gold quality |
| colonic epithelium | UBERON:0000397 | 42.27 | gold quality |
| liver | UBERON:0002107 | 42.01 | gold quality |
| thyroid gland | UBERON:0002046 | 42.00 | gold quality |
| spleen | UBERON:0002106 | 41.29 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 40.95 | gold quality |
| duodenum | UBERON:0002114 | 40.82 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 40.78 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 40.78 | silver quality |
| stromal cell of endometrium | CL:0002255 | 40.67 | silver quality |
| left lobe of thyroid gland | UBERON:0001120 | 40.61 | gold quality |
| tonsil | UBERON:0002372 | 40.53 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 39.04 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 17.09 |
| E-ANND-3 | no | 0.37 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI2, SP1, SP3, SP7
miRNA regulators (miRDB)
12 targeting IFITM5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4641 | 99.28 | 66.64 | 744 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-1911-3P | 99.15 | 66.17 | 528 |
| HSA-MIR-4758-3P | 99.12 | 63.96 | 869 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-296-5P | 97.61 | 64.02 | 851 |
| HSA-MIR-122-5P | 97.23 | 64.92 | 1024 |
| HSA-MIR-874-5P | 96.93 | 63.92 | 1014 |
| HSA-MIR-4772-5P | 95.60 | 68.04 | 617 |
Literature-anchored findings (GeneRIF, showing 12)
- A single recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V. (PMID:22863190)
- A mutation in the 5’-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. (PMID:22863195)
- study demonstrates the presence of a recurrent IFITM5 mutation in a population of patients with osteogenesis imperfecta type V; even though the disease-causing mutation is identical among patients, the interindividual phenotypic variability is considerable (PMID:23240094)
- The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation. (PMID:23408678)
- IFITM5 mutation is associated with Osteogenesis imperfecta type V. (PMID:23804581)
- Recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V. (PMID:23813632)
- The point mutation, c.-14C>T in the 5’-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients. (PMID:23977282)
- Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect. (PMID:24478195)
- The IFITM5 5’ UTR was sequenced in 9 heterozygous subjects with osteogenesis imperfecta type V. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Identical mutations have variable phenotypic expression, even within the same family. (PMID:24674092)
- We suggest that all patients negative for COL1A1/2 pathogenic variants be tested for the presence of an IFITM5 pathogenic variant, even if they are not expressing typical osteogenesis imperfecta V symptoms. (PMID:31159867)
- Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V. (PMID:33360005)
- The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts. (PMID:35216266)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ifitm5 | ENSDARG00000105153 |
| mus_musculus | Ifitm5 | ENSMUSG00000025489 |
| rattus_norvegicus | Ifitm5 | ENSRNOG00000014923 |
Paralogs (5): IFITM3 (ENSG00000142089), IFITM2 (ENSG00000185201), IFITM1 (ENSG00000185885), IFITM10 (ENSG00000244242), (ENSG00000300510)
Protein
Protein identifiers
Interferon-induced transmembrane protein 5 — A6NNB3 (reviewed: A6NNB3)
Alternative names: Bone-restricted interferon-induced transmembrane protein-like protein, Dispanin subfamily A member 1
All UniProt accessions (1): A6NNB3
UniProt curated annotations — full annotation on UniProt →
Function. Required for normal bone mineralization.
Subunit / interactions. Interacts with FKBP11.
Subcellular location. Cell membrane.
Tissue specificity. Detected in osteoblasts and fibroblasts (at protein level). Detected in bone.
Post-translational modifications. Palmitoylated.
Disease relevance. Osteogenesis imperfecta 5 (OI5) [MIM:610967] An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation 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. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the CD225/Dispanin family.
RefSeq proteins (1): NP_001020466* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007593 | CD225/Dispanin_fam | Family |
| IPR051517 | IFITM_antiviral_protein | Family |
Pfam: PF04505
UniProt features (13 total): topological domain 3, lipid moiety-binding region 3, sequence variant 2, transmembrane region 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A6NNB3-F1 | 65.49 | 0.07 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 84, 50, 51
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 100 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_BONE_DEVELOPMENT, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_RESPONSE_TO_KETONE, GOBP_BONE_MINERALIZATION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_OSSIFICATION, GOBP_EMBRYO_DEVELOPMENT, GOBP_BONE_MORPHOGENESIS, GOBP_RESPONSE_TO_ETHER, GOBP_RESPONSE_TO_ALCOHOL, GOBP_SKELETAL_SYSTEM_MORPHOGENESIS
GO Biological Process (7): in utero embryonic development (GO:0001701), bone mineralization (GO:0030282), regulation of bone mineralization (GO:0030500), bone morphogenesis (GO:0060349), response to tacrolimus (GO:1901327), response to rapamycin (GO:1901355), skeletal system development (GO:0001501)
GO Molecular Function (0):
GO Cellular Component (3): cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to nitrogen compound | 2 |
| cellular anatomical structure | 2 |
| chordate embryonic development | 1 |
| ossification | 1 |
| biomineral tissue development | 1 |
| regulation of ossification | 1 |
| bone mineralization | 1 |
| regulation of biomineral tissue development | 1 |
| animal organ morphogenesis | 1 |
| skeletal system morphogenesis | 1 |
| bone development | 1 |
| response to oxygen-containing compound | 1 |
| response to ether | 1 |
| response to alcohol | 1 |
| response to ketone | 1 |
| system development | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
824 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IFITM5 | CRTAP | O75718 | 783 |
| IFITM5 | TMEM38B | Q9NVV0 | 776 |
| IFITM5 | FKBP10 | Q96AY3 | 735 |
| IFITM5 | P3H1 | Q32P28 | 722 |
| IFITM5 | SERPINF1 | P36955 | 677 |
| IFITM5 | PLOD2 | O00469 | 630 |
| IFITM5 | BMP1 | P13497 | 630 |
| IFITM5 | SEC24D | O94855 | 629 |
| IFITM5 | CREB3L1 | Q96BA8 | 628 |
| IFITM5 | COL1A2 | P02464 | 626 |
| IFITM5 | ADORA2A | P29274 | 623 |
| IFITM5 | SERPINH1 | P29043 | 621 |
| IFITM5 | PLS3 | P13797 | 610 |
| IFITM5 | MBTPS2 | O43462 | 605 |
| IFITM5 | COL1A1 | P02452 | 603 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFITM5 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| IFITM5 | APOB | psi-mi:“MI:0914”(association) | 0.350 |
| IFITM5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (6): IFITM5 (Two-hybrid), APOB (Affinity Capture-MS), XPO7 (Affinity Capture-MS), IKBIP (Affinity Capture-MS), PKD2 (Affinity Capture-MS), ATXN3 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WTH1, A2RRL7, A5D7M7, A6NNB3, C9JQL5, K7EJ46, O70491, O88728, P0C5X8, P13164, P26376, P70606, Q01628, Q01629, Q0V8E7, Q1HG43, Q1HG44, Q1KZG0, Q2KJ98, Q2MHH0, Q2TA35, Q49LS7, Q4QR83, Q4VV71, Q5M8E3, Q5R7B4, Q5RCC0, Q5T197, Q5T1A1, Q640M6, Q6PEY1, Q6ZNR0, Q7TNJ2, Q7YQI4, Q8BH02, Q8C581, Q8IUH8, Q8IXB3, Q8IZY2, Q8WTR4
Diamond homologs: A6NMD0, A6NNB3, C9JQL5, O88728, P13164, P26376, Q01628, Q01629, Q8BR26, Q91499, Q99J93, Q9CQW9, Q9D103, D3ZFB6, E9PUL5, Q2MHH0, Q5RAC1, Q6DFT4, Q7Z6L0, Q8C838
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GLI2 | “up-regulates quantity by expression” | IFITM5 | “transcriptional regulation” |
| SP1 | “up-regulates quantity by expression” | IFITM5 | “transcriptional regulation” |
| SP7 | “up-regulates quantity by expression” | IFITM5 | “transcriptional regulation” |
| SP3 | “up-regulates quantity by expression” | IFITM5 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
181 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 50 |
| Benign | 27 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 183677 | NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu) | Pathogenic |
| 37143 | NM_001025295.3(IFITM5):c.-14C>T | Pathogenic |
SpliceAI
143 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:298710:GGGC:G | acceptor_gain | 1.0000 |
| 11:298714:C:CC | acceptor_gain | 1.0000 |
| 11:299302:CACCT:C | donor_loss | 1.0000 |
| 11:299303:ACCTT:A | donor_loss | 1.0000 |
| 11:299304:C:CA | donor_loss | 1.0000 |
| 11:298709:CGGGC:C | acceptor_gain | 0.9900 |
| 11:298711:GGC:G | acceptor_gain | 0.9900 |
| 11:298712:GC:G | acceptor_gain | 0.9900 |
| 11:298713:CC:C | acceptor_gain | 0.9900 |
| 11:298713:CCT:C | acceptor_loss | 0.9900 |
| 11:298714:C:CA | acceptor_loss | 0.9900 |
| 11:298715:T:C | acceptor_loss | 0.9900 |
| 11:298717:C:CT | acceptor_gain | 0.9900 |
| 11:298714:C:T | acceptor_gain | 0.9800 |
| 11:298726:C:T | acceptor_gain | 0.9700 |
| 11:299303:A:AC | donor_gain | 0.9700 |
| 11:299304:C:CC | donor_gain | 0.9700 |
| 11:298726:C:CT | acceptor_gain | 0.9600 |
| 11:298727:A:T | acceptor_gain | 0.9600 |
| 11:298711:GGCCT:G | acceptor_gain | 0.9500 |
| 11:298712:GCCTG:G | acceptor_gain | 0.9500 |
| 11:298713:CCTGC:C | acceptor_gain | 0.9500 |
| 11:298710:GGGCC:G | acceptor_gain | 0.9300 |
| 11:298714:C:A | acceptor_gain | 0.9300 |
| 11:298718:A:T | acceptor_gain | 0.9200 |
| 11:298715:T:G | acceptor_gain | 0.9100 |
| 11:298731:C:CT | acceptor_gain | 0.8500 |
| 11:299438:G:A | donor_gain | 0.8400 |
| 11:299372:G:T | donor_gain | 0.8300 |
| 11:299364:TGAA:T | donor_gain | 0.8200 |
AlphaMissense
834 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:299312:G:A | S60F | 0.984 |
| 11:299362:G:C | S43R | 0.984 |
| 11:299362:G:T | S43R | 0.984 |
| 11:299364:T:G | S43R | 0.984 |
| 11:298642:G:C | N86K | 0.983 |
| 11:298642:G:T | N86K | 0.983 |
| 11:298626:A:G | W92R | 0.979 |
| 11:298626:A:T | W92R | 0.979 |
| 11:299305:C:A | K62N | 0.972 |
| 11:299305:C:G | K62N | 0.972 |
| 11:299334:C:G | G53R | 0.970 |
| 11:299312:G:T | S60Y | 0.968 |
| 11:299347:A:C | N48K | 0.968 |
| 11:299347:A:T | N48K | 0.968 |
| 11:299324:G:T | A56E | 0.965 |
| 11:298596:C:G | G102R | 0.964 |
| 11:298596:C:T | G102R | 0.964 |
| 11:298706:T:A | D65V | 0.961 |
| 11:299333:C:T | G53D | 0.959 |
| 11:298709:C:G | R64P | 0.958 |
| 11:298580:C:T | G107D | 0.957 |
| 11:299340:A:G | C51R | 0.957 |
| 11:298676:G:T | A75D | 0.956 |
| 11:298656:C:G | A82P | 0.954 |
| 11:299376:A:G | W39R | 0.953 |
| 11:299376:A:T | W39R | 0.953 |
| 11:298706:T:G | D65A | 0.951 |
| 11:298707:C:G | D65H | 0.948 |
| 11:299313:A:G | S60P | 0.947 |
| 11:298604:A:C | L99R | 0.946 |
dbSNP variants (sampled 300 via entrez): RS1000533804 (11:299978 C>T), RS1000543749 (11:300155 G>A,C,T), RS1001784042 (11:300892 G>A), RS1002522169 (11:298329 G>A,C,T), RS1003214590 (11:300048 G>A,C), RS1003581198 (11:297762 C>A), RS1003601554 (11:301505 A>G), RS1004936171 (11:298702 C>A,G,T), RS1005340568 (11:301517 G>A), RS1005498186 (11:297865 C>T), RS1005539092 (11:297929 G>A,T), RS1006343462 (11:300579 G>A), RS1006363950 (11:298932 C>A,T), RS1006650448 (11:301317 C>T), RS1008364604 (11:300415 C>T)
Disease associations
OMIM: gene MIM:614757 | disease phenotypes: MIM:166200, MIM:610967
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| osteogenesis imperfecta type 5 | Definitive | Autosomal dominant |
Mondo (3): osteogenesis imperfecta (MONDO:0019019), osteogenesis imperfecta type 5 (MONDO:0012591), postmenopausal osteoporosis (MONDO:0008159)
Orphanet (2): Osteogenesis imperfecta (Orphanet:666), Osteogenesis imperfecta type 5 (Orphanet:216828)
HPO phenotypes
20 total (20 of 20 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000325 | Triangular face |
| HP:0000592 | Blue sclerae |
| HP:0000703 | Dentinogenesis imperfecta |
| HP:0000926 | Platyspondyly |
| HP:0000938 | Osteopenia |
| HP:0001187 | Hyperextensibility of the finger joints |
| HP:0001382 | Joint hypermobility |
| HP:0001763 | Pes planus |
| HP:0002644 | Abnormal pelvic girdle bone morphology |
| HP:0002645 | Wormian bones |
| HP:0002757 | Recurrent fractures |
| HP:0003593 | Infantile onset |
| HP:0004322 | Short stature |
| HP:0004586 | Biconcave vertebral bodies |
| HP:0005084 | Anterior radial head dislocation |
| HP:0006394 | Limited pronation/supination of forearm |
| HP:0008422 | Vertebral wedging |
| HP:0010485 | Hyperextensibility at elbow |
| HP:0030268 | Hyperplastic callus formation |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011353_8 | Serum alkaline phosphatase levels | 7.000000e-39 |
| GCST011365_141 | Myocardial infarction | 7.000000e-06 |
| GCST90011900_65 | Serum alkaline phosphatase levels | 1.000000e-71 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004533 | alkaline phosphatase measurement |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D010013 | Osteogenesis Imperfecta | C05.116.099.708.685; C16.320.737; C17.300.200.540 |
| D015663 | Osteoporosis, Postmenopausal | C05.116.198.579.610; C18.452.104.579.610 |
| C567042 | Osteogenesis Imperfecta, Type V (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| aflatoxin B2 | decreases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1ZT | HAP1 IFITM5 (-) 1 | Cancer cell line | Male |
| CVCL_E1ZU | HAP1 IFITM5 (-) 2 | Cancer cell line | Male |
| CVCL_E1ZV | HAP1 IFITM5 (-) 3 | Cancer cell line | Male |
| CVCL_E1ZW | HAP1 IFITM5 (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
197 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00131469 | PHASE4 | COMPLETED | Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta |
| NCT00159419 | PHASE4 | COMPLETED | Bisphosphonate Therapy for Osteogenesis Imperfecta |
| NCT01713231 | PHASE4 | COMPLETED | Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta |
| NCT02303873 | PHASE4 | COMPLETED | Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta |
| NCT03735537 | PHASE4 | COMPLETED | Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid |
| NCT04152551 | PHASE4 | RECRUITING | Effects of Bisphosphonates on OI-Related Hearing Loss |
| NCT00079924 | PHASE4 | COMPLETED | Effects of Teriparatide in Postmenopausal Women With Osteoporosis |
| NCT00239629 | PHASE4 | COMPLETED | Teriparatide and Strontium Ranelate Head-To-Head Comparison Trial |
| NCT00545051 | PHASE4 | COMPLETED | A Study of Once Monthly Bonviva (Ibandronate) in Prevention of Glucocorticoid-Induced Osteoporosis. |
| NCT00545363 | PHASE4 | COMPLETED | A Study of Adherence to Once Monthly Ibandronate (Bonviva) in Women With Post-Menopausal Osteoporosis, Supported by a Patient Relationship Program (PRP) |
| NCT00545909 | PHASE4 | COMPLETED | BEATRIS Study: A Study of Adherence to Bonviva (Ibandronate) Once Monthly in Women With Post-Menopausal Osteoporosis |
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Related Atlas pages
- Associated diseases: osteogenesis imperfecta type 5
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myocardial infarction, osteogenesis imperfecta, osteogenesis imperfecta type 5, postmenopausal osteoporosis