IFITM5 (interferon induced transmembrane protein 5)

2014-11-01  

Identity

HGNC
IFITM5
LOCATION
11p15.5
LOCUSID
387733
ALIAS
BRIL,DSPA1,Hrmp1,OI5,fragilis4

Other Information

Locus ID:

NCBI: 387733
MIM: 614757
HGNC: 16644
Ensembl: ENSG00000206013

Variants:

dbSNP: 387733
ClinVar: 387733
TCGA: ENSG00000206013
COSMIC: IFITM5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206013ENST00000382614A6NNB3

Expression (GTEx)

0
1
2
3
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
311598672019IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.1
228631902012A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.0
228631952012A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.0
232400942013Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.0
234086782013Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.0
238045812013Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.0
238136322013A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.0
239772822013Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.0
244781952014Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.0
246740922014The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.0

Citation

Dessen P

IFITM5 (interferon induced transmembrane protein 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64513/ifitm5