IFITM5 interferon induced transmembrane protein 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IFITM5provided by HGNC
Official Full Name: interferon induced transmembrane protein 5provided by HGNC
Primary source: HGNC:HGNC:16644
See related: Ensembl:ENSG00000206013 MIM:614757; AllianceGenome:HGNC:16644
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OI5; BRIL; DSPA1; Hrmp1; fragilis4
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (298200..299526, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (339421..340747, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (298200..299526, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.
Title: The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V.
Title: Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V.
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.
Title: IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients.
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect.
Title: Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.
The point mutation, c.-14C>T in the 5'-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients.
Title: Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.
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.
Title: The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
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.
Title: Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
Recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
Title: A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
IFITM5 mutation is associated with Osteogenesis imperfecta type V.
Title: Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
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
Title: Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta type 5 MedGen: C2931093 OMIM: 610967 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

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See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_2547-2548:991932804:1 (e-PCR)
- UniSTS:230921

RH92933 (e-PCR)
- UniSTS:85736

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in bone mineralization	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in regulation of bone mineralization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interferon-induced transmembrane protein 5

Names: bone-restricted ifitm-like protein; bone-restricted interferon-induced transmembrane protein-like protein; dispanin subfamily A member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.