Human Gene IREB2 (ENST00000258886.13_4) from GENCODE V47lift37
  Description: iron responsive element binding protein 2, transcript variant 1 (from RefSeq NM_004136.4)
Gencode Transcript: ENST00000258886.13_4
Gencode Gene: ENSG00000136381.13_8
Transcript (Including UTRs)
   Position: hg19 chr15:78,730,558-78,793,795 Size: 63,238 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr15:78,730,680-78,790,485 Size: 59,806 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:78,730,558-78,793,795)mRNA (may differ from genome)Protein (963 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IREB2_HUMAN
DESCRIPTION: RecName: Full=Iron-responsive element-binding protein 2; Short=IRE-BP 2; AltName: Full=Iron regulatory protein 2; Short=IRP2;
FUNCTION: RNA-binding protein that binds to iron-responsive elements (IRES), which are stem-loop structures found in the 5'- UTR of ferritin, and delta aminolevulinic acid synthase mRNAs, and in the 3'-UTR of transferrin receptor mRNA. Binding to the IRE element in ferritin results in the repression of its mRNA translation. Binding of the protein to the transferrin receptor mRNA inhibits the degradation of this otherwise rapidly degraded mRNA.
COFACTOR: Binds 1 4Fe-4S cluster per subunit (By similarity). 4Fe- 4S-binding affects RNA-binding activity, thereby inhibiting activity of the protein (By similarity).
SUBUNIT: Interacts with RBCK1 isoform 1 and isoform 2 only in iron-rich conditions. Interacts (when associated with the 4Fe-4S) with FBXL5.
SUBCELLULAR LOCATION: Cytoplasm.
PTM: Ubiquitinated and degraded by the proteasome in presence of high level of iron and oxygen. Ubiquitinated by a SCF complex containing FBXL5. Upon iron and oxygen depletion FBXL5 is degraded, preventing ubiquitination and allowing its RNA-binding activity.
SIMILARITY: Belongs to the aconitase/IPM isomerase family.
SEQUENCE CAUTION: Sequence=AAA79926.1; Type=Frameshift; Positions=605, 611; Sequence=BAD92640.1; Type=Frameshift; Positions=727;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IREB2
Diseases sorted by gene-association score: microcytic anemia (8), hyperferritinemia-cataract syndrome (8), iron metabolism disease (7), hemochromatosis (4), lung cancer (2), parkinson disease, late-onset (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.55 RPKM in Adrenal Gland
Total median expression: 256.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.70122-0.178 Picture PostScript Text
3' UTR -815.803310-0.246 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015931 - Acnase/IPM_dHydase_lsu_aba_1/3
IPR015937 - Acoase/IPM_deHydtase
IPR001030 - Acoase/IPM_deHydtase_lsu_aba
IPR015928 - Aconitase/3IPM_dehydase_swvl
IPR006249 - Aconitase/Fe_reg_prot_2
IPR015934 - Aconitase/Fe_reg_prot_2/AcnD
IPR015932 - Aconitase/IPMdHydase_lsu_aba_2
IPR018136 - Aconitase_4Fe-4S_BS
IPR000573 - AconitaseA/IPMdHydase_ssu_swvl

Pfam Domains:
PF00330 - Aconitase family (aconitate hydratase)
PF00694 - Aconitase C-terminal domain

SCOP Domains:
52016 - LeuD/IlvD-like
53732 - Aconitase iron-sulfur domain

ModBase Predicted Comparative 3D Structure on P48200
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0030350 iron-responsive element binding
GO:0030371 translation repressor activity
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding

Biological Process:
GO:0006826 iron ion transport
GO:0006879 cellular iron ion homeostasis
GO:0008152 metabolic process
GO:0017148 negative regulation of translation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB209403 - Homo sapiens mRNA for iron-responsive element binding protein 2 variant protein.
AK292992 - Homo sapiens cDNA FLJ77383 complete cds, highly similar to Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.
BC117481 - Homo sapiens iron-responsive element binding protein 2, mRNA (cDNA clone MGC:151090 IMAGE:40126032), complete cds.
BC117483 - Homo sapiens iron-responsive element binding protein 2, mRNA (cDNA clone MGC:151092 IMAGE:40126034), complete cds.
BC143948 - Homo sapiens cDNA clone IMAGE:9052466.
M58511 - Human iron-responsive element-binding protein/iron regulatory protein 2 (IRE-BP2/IRP2) mRNA, partial cds.
HQ258663 - Synthetic construct Homo sapiens clone IMAGE:100072693 iron-responsive element binding protein 2 (IREB2) gene, encodes complete protein.
U20180 - Human iron-regulatory protein 2 (IRP2) mRNA, partial cds.
AK027033 - Homo sapiens cDNA: FLJ23380 fis, clone HEP16267, highly similar to HUMIREBPA Human iron-responsive element-binding protein/iron regulatory protein 2 (IRE-BP2/IRP2) mRNA.
AK027034 - Homo sapiens cDNA: FLJ23381 fis, clone HEP16268, highly similar to HUMIREBPA Human iron-responsive element-binding protein/iron regulatory protein 2 (IRE-BP2/IRP2) mRNA.
BC017880 - Homo sapiens iron-responsive element binding protein 2, mRNA (cDNA clone IMAGE:4277855), complete cds.
JD141737 - Sequence 122761 from Patent EP1572962.
KJ905815 - Synthetic construct Homo sapiens clone ccsbBroadEn_15485 IREB2 gene, encodes complete protein.
AB586699 - Homo sapiens IREB2 variant mRNA for iron-responsive element binding protein 2 variant, complete cds.
AL133439 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 200978.
JD524796 - Sequence 505820 from Patent EP1572962.
JD493724 - Sequence 474748 from Patent EP1572962.
JD359175 - Sequence 340199 from Patent EP1572962.
JD300720 - Sequence 281744 from Patent EP1572962.
JD546930 - Sequence 527954 from Patent EP1572962.
JD371007 - Sequence 352031 from Patent EP1572962.
JD171389 - Sequence 152413 from Patent EP1572962.
JD248919 - Sequence 229943 from Patent EP1572962.
JD110798 - Sequence 91822 from Patent EP1572962.
JD510386 - Sequence 491410 from Patent EP1572962.
JD090877 - Sequence 71901 from Patent EP1572962.
JD037251 - Sequence 18275 from Patent EP1572962.
JD281845 - Sequence 262869 from Patent EP1572962.
JD293667 - Sequence 274691 from Patent EP1572962.
JD271150 - Sequence 252174 from Patent EP1572962.
JD192985 - Sequence 174009 from Patent EP1572962.
JD136837 - Sequence 117861 from Patent EP1572962.
JD071900 - Sequence 52924 from Patent EP1572962.
JD203723 - Sequence 184747 from Patent EP1572962.
JD560643 - Sequence 541667 from Patent EP1572962.
JD476622 - Sequence 457646 from Patent EP1572962.
JD132160 - Sequence 113184 from Patent EP1572962.
AL117613 - Homo sapiens mRNA; cDNA DKFZp564D1164 (from clone DKFZp564D1164).
JD506268 - Sequence 487292 from Patent EP1572962.
JD223646 - Sequence 204670 from Patent EP1572962.
JD553258 - Sequence 534282 from Patent EP1572962.
JD040570 - Sequence 21594 from Patent EP1572962.
JD552656 - Sequence 533680 from Patent EP1572962.
JD261037 - Sequence 242061 from Patent EP1572962.
JD094418 - Sequence 75442 from Patent EP1572962.
JD245492 - Sequence 226516 from Patent EP1572962.
JD045901 - Sequence 26925 from Patent EP1572962.
JD368373 - Sequence 349397 from Patent EP1572962.
JD490783 - Sequence 471807 from Patent EP1572962.
JD503307 - Sequence 484331 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P48200 (Reactome details) participates in the following event(s):

R-HSA-5691108 SKP1:FBXL5:CUL1:NEDD8 ubiquitinylates IREB2
R-HSA-5690886 ACO1, IREB2 bind IREs in TFRC, ALAD, FTL, FTH1 mRNAs
R-HSA-917937 Iron uptake and transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0A6YY96, A8KAC7, E1CJT9, ENST00000258886.1, ENST00000258886.10, ENST00000258886.11, ENST00000258886.12, ENST00000258886.2, ENST00000258886.3, ENST00000258886.4, ENST00000258886.5, ENST00000258886.6, ENST00000258886.7, ENST00000258886.8, ENST00000258886.9, H0YKU0, IREB2_HUMAN, NM_004136, P48200, Q13095, Q1HE21, Q59FQ7, Q8WVK6, Q9UF17, uc317gel.1, uc317gel.2
UCSC ID: ENST00000258886.13_4
RefSeq Accession: NM_004136.4
Protein: P48200 (aka IREB2_HUMAN or IRE2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.