IFITM5 - interferon induced transmembrane protein 5 Gene

Also Known as OI5; BRIL; DSPA1; Hrmp1; fragilis4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 387733

About IFITM5

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:298,200-299,526 (from NCBI)

This gene has 1 transcript (splice variant), 187 orthologues, 4 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

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 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]

IFITM5 Products (1)

mRNA	Protein	Name
NM_001025295.3	NP_001020466.1	interferon-induced transmembrane protein 5

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in bone mineralization	IMP IMP: Inferred from mutant phenotype	24519609	GOA
involved in bone morphogenesis	IMP IMP: Inferred from mutant phenotype	24519609	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	24519609	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IFITM5 Protein Structure

CD225

0
100
132 a.a.

Protein Preferred Names	Protein Names
interferon-induced transmembrane protein 5	bone-restricted ifitm-like protein

Related Diseases

Diseases	Alias
Osteogenesis Imperfecta, Type V	Osteogenesis Imperfecta Type 5 OI5 Osteogenesis Imperfecta Type V Oi Type 5 Oi Type V Oi, Type V Oi With Calcification In Interosseous Membranes Type V Oi Osteogenesis Imperfecta 5 Oi-V
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Osteogenesis Imperfecta, Type Vi	OI6 Osteogenesis Imperfecta Type 6 Osteogenesis Imperfecta Type Vi Oi Type Vi Oi Type 6 Osteogenesis Imperfecta Type Serpinfi- Related Osteogenesis Imperfecta Osteogenesis Imperfecta 6 Oi-Vi
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Eds Viib EDSARTH2 Ehlers-Danlos Syndrome, Type Viib, Autosomal Dominant Eds7b Ehlers-Danlos Syndrome Arthrochalasia Type 2 Ehlers-Danlos Syndrome Type 7b Ehlers-Danlos Syndrome 7b Ehlers-Danlos Syndrome, Arthrochalasia, Type 2
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Osteogenesis Imperfecta, Type Vii	Osteogenesis Imperfecta Type 7 Osteogenesis Imperfecta Type Vii OI7 Oi Type Vii Oi, Type Vii Osteogenesis Imperfecta, Type Iib, Formerly Oi2b, Formerly Oi Type 7 Osteogenesis Imperfecta 7 Oi2b Oi-Iib Oi Type Iib Oi-Vii Osteogenesis Imperfecta Perinatal Lethal Autosomal Recessive Osteogenesis Imperfecta Type Ii Autosomal Recessive Osteogenesis Imperfecta Type Iib
Bone Development Disease
Osteogenesis Imperfecta, Type I	Osteogenesis Imperfecta Type I OI1 Oi, Type I Osteogenesis Imperfecta Tarda Osteogenesis Imperfecta With Blue Sclerae Osteogenesis Imperfecta Type 1 Adair-Dighton Syndrome Mild Osteogenesis Imperfecta Non-Deforming Osteogenesis Imperfecta Oi Type 1 Van Der Hoeve Syndrome Classic Non-Deforming Oi With Blue Sclerae Osteogenesis Imperfecta 1 Oi-I Osteopenic Non-Fracture Syndrome Osteogenesis Imperfecta, Mild Osteogenesis Imperfecta Lobstein'S Disease
Periosteal Osteogenic Sarcoma	Periosteal Osteosarcoma Parosteal Osteosarcoma
Cerebral Amyloid Angiopathy, Itm2b-Related, 1	Dementia, Familial British Fbd Presenile Dementia With Spastic Ataxia Familial British Dementia Abri Amyloidosis Cerebral Amyloid Angiopathy, British Type Itm2b-Related Cerebral Amyloid Angiopathy 1 Familial Dementia, British Type Cerebral Amyloid Angiopathy, Itm2b-Related 1 CAA-ITM2B1 Cerebral Amyloid Angiopathy British Type Dementia, Familial, British
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Osteoporosis, Juvenile	Idiopathic Juvenile Osteoporosis Idiopathic Osteoporosis Juvenile Osteoporosis Ijo
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital
Osteogenesis Imperfecta, Type Iv	Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type Iv OI4 Oi, Type Iv Osteogenesis Imperfecta With Normal Sclerae Oi Type Iv Oi Type 4 Osteogenesis Imperfecta With Normal Sclera Common Variable Oi With Normal Sclerae Osteogenesis Imperfecta 4 Oi-Iv
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06569	IFITM5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	IFITM5	MGD	MGI:1934923
Felis catus	IFITM5	VGNC	VGNC:62875
Bos taurus	IFITM5	VGNC	VGNC:30053
Rattus norvegicus	IFITM5	RGD	RGD:1307900
Macaca mulatta	IFITM5	VGNC	VGNC:73398
Others	IFITM5	NCBI