Description: Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA. RefSeq Summary (NM_004136): 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. [provided by RefSeq, Aug 2017]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Transcript (Including UTRs) Position: hg19 chr15:78,730,518-78,793,798 Size: 63,281 Total Exon Count: 22 Strand: + Coding Region Position: hg19 chr15:78,730,680-78,790,485 Size: 59,806 Coding Exon Count: 22
Alzheimer's disease Coon, K. D. et al. 2006, Preliminary demonstration of an allelic association of the IREB2 gene with Alzheimer's disease, J Alzheimers Dis 2006 9(3) 225-33.
[PubMed 16914832]
Chronic obstructive Pulmonary Disease Pillai ,et al. 2009, A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci, PLoS genetics 2009 5- 3 : e1000421.
[PubMed 19300482]
Chronic obstructive pulmonary disease Cho ,et al. Nat Genet 2010, Variants in FAM13A are associated with chronic obstructive pulmonary disease , Nature genetics 2010 42- 3 : 200-2.
[PubMed 20173748]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on D3DW85
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
