IREB2

iron responsive element binding protein 2

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. [provided by RefSeq, Aug 2017]

Known Variants214 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17483548	15:78,730,313	G/C	—	—
rs751197364	15:78,730,689	C/T	—	uncertain significance
rs17405217	15:78,731,149	C/T	regulatory region variant	—
rs767253536	15:78,732,133	T/C	—	likely benign
rs750019721	15:78,732,141	C/T	—	likely benign
rs2542525227	15:78,732,157	A/G	—	uncertain significance
rs150473761	15:78,732,195	C/T	—	likely benign
rs1325589730	15:78,732,203	C/T	—	uncertain significance
rs1025943734	15:78,732,239	A/G	—	likely benign
rs377278047	15:78,732,242	T/A	—	likely benign
rs17483686	15:78,733,390	A/C	—	—
rs17483721	15:78,733,731	T/C	intron variant	—
rs55983731	15:78,735,269	C/T	intron variant	—
rs72738718	15:78,735,438	G/A	—	—
rs2089162	15:78,739,763	A/C	—	—
rs2938670	15:78,740,688	T/G	intron variant	—
rs2656052	15:78,740,932	A/C	intron variant	—
rs2568494	15:78,740,964	G/A	intron variant	—
rs17483929	15:78,742,376	G/A	intron variant	—
rs56219465	15:78,742,579	A/G	intron variant	—
rs11637656	15:78,751,961	C/T	intron variant	—
rs72738732	15:78,752,188	C/T	—	—
rs1567168999	15:78,755,285	G/A	—	uncertain significance
rs780122247	15:78,755,315	G/A	—	uncertain significance
rs2542571924	15:78,755,372	A/G	—	uncertain significance
rs2542571946	15:78,755,377	A/G	—	uncertain significance
rs2542571979	15:78,755,382	T/C	—	likely benign
rs2051261300	15:78,757,582	T/A	—	uncertain significance
rs182732513	15:78,757,624	A/G	—	likely benign
rs368758572	15:78,757,633	G/A	—	uncertain significance
rs2542577082	15:78,757,634	C/T	—	uncertain significance
rs780324273	15:78,757,641	A/G	—	likely benign
rs547881233	15:78,757,663	A/G	—	uncertain significance
rs2542577454	15:78,757,695	A/G	—	likely benign
rs1441801349	15:78,757,742	C/A	—	likely benign
rs1383081151	15:78,758,667	G/T	—	uncertain significance
rs2958720	15:78,758,677	G/G	—	benign
rs143069481	15:78,758,698	C/A	—	uncertain significance
rs1461955309	15:78,758,711	G/A	—	uncertain significance
rs1189676223	15:78,758,718	T/C	—	likely benign
rs148236710	15:78,758,728	G/A	—	likely benign
rs570981800	15:78,758,748	A/G	—	likely benign
rs752687698	15:78,758,753	G/A	—	uncertain significance
rs528213818	15:78,758,756	G/A	—	uncertain significance
rs779584145	15:78,758,778	G/A	—	likely benign
rs1276578339	15:78,758,795	C/T	—	uncertain significance
rs1265929151	15:78,758,810	T/C	—	uncertain significance
rs148145119	15:78,758,815	T/C	—	likely benign
rs115506959	15:78,758,838	G/T	—	benign
rs2938672	15:78,758,853	A/C	—	benign
rs376077722	15:78,760,144	G/A	—	—
rs4887057	15:78,760,918	G/C	—	—
rs192407832	15:78,762,134	C/T	intron variant	—
rs2542590022	15:78,762,857	G/A	—	likely benign
rs777876620	15:78,762,881	A/G	—	uncertain significance
rs138124168	15:78,762,889	A/T	—	uncertain significance
rs200887475	15:78,762,900	A/C	—	conflicting classifications of pathogenicity
rs1351526372	15:78,762,911	G/A	—	uncertain significance
rs2051359163	15:78,762,949	A/G	—	uncertain significance
rs145927005	15:78,764,106	T/G	—	uncertain significance
rs191113858	15:78,764,116	A/T	—	uncertain significance
rs749072103	15:78,764,166	A/G	—	likely benign
rs182290795	15:78,764,167	A/C	—	benign
rs35999247	15:78,764,187	A/G	—	benign
rs267604332	15:78,764,194	C/T	—	uncertain significance
rs376011164	15:78,764,199	C/G	—	uncertain significance
rs2051384573	15:78,764,205	C/T	—	uncertain significance
rs2542593733	15:78,764,207	G/A	—	uncertain significance
rs2542593908	15:78,764,262	G/A	—	likely benign
rs3817092	15:78,764,285	A/G	—	benign
rs72738736	15:78,765,122	G/T	intron variant	—
rs12593229	15:78,765,290	T/G	intron variant	—
rs546046493	15:78,765,578	C/T	—	likely benign
rs370273222	15:78,765,579	G/A	—	likely benign
rs2542596716	15:78,765,622	C/T	—	likely benign
rs2051409817	15:78,765,647	A/G	—	uncertain significance
rs2051409990	15:78,765,663	G/C	—	uncertain significance
rs372692794	15:78,765,675	A/G	—	likely benign
rs2542596826	15:78,765,681	C/T	—	likely benign
rs115884650	15:78,765,696	C/T	—	likely benign
rs770392233	15:78,765,731	A/G	—	likely benign
rs4299116	15:78,766,194	T/G	—	—
rs1504549	15:78,766,629	C/T	intron variant	—
rs2542599131	15:78,766,760	G/A	—	uncertain significance
rs917360423	15:78,767,286	T/A	—	uncertain significance
rs12592111	15:78,767,346	G/C	—	—
rs2051467013	15:78,768,538	G/A	—	likely benign
rs374696814	15:78,768,546	G/A	—	uncertain significance
rs1566982116	15:78,768,575	G/T	—	likely pathogenic
rs755412387	15:78,768,599	A/G	—	uncertain significance
rs779301337	15:78,768,617	A/G	—	uncertain significance
rs142912507	15:78,768,627	T/C	—	uncertain significance
rs1192959867	15:78,768,633	C/T	—	uncertain significance
rs376996832	15:78,768,699	C/A	—	uncertain significance
rs8043227	15:78,768,871	C/G	downstream gene variant	—
rs12916801	15:78,769,130	A/G	downstream gene variant	—
rs371462066	15:78,770,631	C/T	—	likely benign
rs199584758	15:78,770,632	G/A	—	likely benign
rs147732146	15:78,770,658	C/T	—	likely benign
rs146949380	15:78,770,665	A/G	—	likely benign

Showing 100 of 214 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.