Interferon-Induced Transmembrane Protein 5

Alternative Names

  • IFITM5
  • Bone-Restricted IFITM-Like Protein 5
  • BRIL
  • Fragilis 4, Mouse, Homolog Of
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OMIM Number

614757

NCBI Gene ID

387733

Uniprot ID

A6NNB3

Length

1,327 bases

No. of Exons

2

Protein Name

Interferon-induced transmembrane protein 5

Molecular Mass

14378 Da

Amino Acid Count

132

Genomic Location

chr11:298,199-299,525

Gene Map Locus
11p15.5

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001025295.3:c.-14C>TSaudi ArabiaNC_000011.10:g.299504G>APathogenicLikely PathogenicOsteogenesis Imperfecta, Type VNG_032892.1:g.5023C>T; NM_001025295.3:c.-14C>T58777691637143
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