Gene: IREB2

Alternate names for this Gene: ACO3|IRE-BP 2|IRE-BP2|IRP2|IRP2AD|NDCAMA

Gene Summary: The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding to the 5' UTR represses translation, while binding to the 3' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.1

Description of this Gene: iron responsive element binding protein 2

Type of Gene: protein-coding

rs10519198 in IREB2 gene and Adenocarcinoma of lung (disorder) PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

rs1062980 in IREB2 gene and Chronic Obstructive Airway Disease PMID 21921092 2011 Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease.

PMID 22080838 2012 A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.

PMID 29767774 2019 Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls.

PMID 20173748 2010 Variants in FAM13A are associated with chronic obstructive pulmonary disease.

PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

PMID 25101718 2015 Both meta-analyses revealed a genome-wide significant locus on chromosome 15q25.1 in IREB2 (COPD with versus without PAE, rs7181486; odds ratio [OR] = 1.32; P = 2.10 × 10(-8); versus smoking control subjects, rs2009746; OR = 1.42; P = 1.32 × 10(-9)).

PMID 25241909 2014 Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.

rs1062980 in IREB2 gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs10519198 in IREB2 gene and Malignant neoplasm of lung PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

PMID 19654303 2009 Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.

PMID 18978790 2008 Lung cancer susceptibility locus at 5p15.33.

rs1062980 in IREB2 gene and Smoking Behaviors PMID 20418889 2010 Meta-analysis and imputation refines the association of 15q25 with smoking quantity.

PMID 20418888 2010 Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

PMID 20418890 2010 Genome-wide meta-analyses identify multiple loci associated with smoking behavior.

rs1062980 in IREB2 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.