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Aliases for IREB2 Gene

Aliases for IREB2 Gene

  • Iron Responsive Element Binding Protein 2 2 3 5
  • Iron Regulatory Protein 2 3 4
  • IRE-BP 2 3 4
  • IRP2 3 4
  • Iron-Responsive Element-Binding Protein 2 3
  • EC 4.2.1.3 61
  • IRP2AD 3
  • ACO3 3

External Ids for IREB2 Gene

Previous GeneCards Identifiers for IREB2 Gene

  • GC15P074809
  • GC15P071820
  • GC15P076306
  • GC15P076446
  • GC15P076517
  • GC15P078730
  • GC15P055487

Summaries for IREB2 Gene

GeneCards Summary for IREB2 Gene

IREB2 (Iron Responsive Element Binding Protein 2) is a Protein Coding gene. Diseases associated with IREB2 include Microcytic Anemia and Hyperferritinemia-Cataract Syndrome. Among its related pathways are Validated targets of C-MYC transcriptional activation and Glucose / Energy Metabolism. GO annotations related to this gene include RNA binding and translation repressor activity. An important paralog of this gene is ACO1.

UniProtKB/Swiss-Prot for IREB2 Gene

  • 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IREB2 Gene

Genomics for IREB2 Gene

Regulatory Elements for IREB2 Gene

Enhancers for IREB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G078858 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 17.3 +422.9 422925 3.4 MLX SIN3A BRCA1 YY1 ZNF121 GTF3C2 ZNF143 FOS KLF7 DEK ADAMTS7 MORF4L1 IREB2 ENSG00000259562 CTSH RASGRF1 TRK-CTT1-2 LOC390614
GH15G078436 1.4 ENCODE dbSUPER 22.3 +1.3 1338 4.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CHRNA5 IREB2 TBC1D2B ENSG00000259792 WDR61 PSMA4 ENSG00000259474
GH15G078006 1.4 ENCODE dbSUPER 19.7 -429.7 -429659 2.9 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 IREB2 ENSG00000259322 ENSG00000259562 TBC1D2B SH2D7 ENSG00000199633 GC15M078014 PIR35295 PIR48785 GC15M078002
GH15G078460 1.3 FANTOM5 Ensembl ENCODE dbSUPER 21.2 +24.2 24230 1.4 HNF1A CEBPA HNF4A BCL6 CHRNA5 IREB2 WDR61 CRABP1 ACSBG1 ENSG00000259474
GH15G077540 1.5 Ensembl ENCODE dbSUPER 17.9 -895.0 -895037 3.4 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143 FOS DEK LOC101929457 IREB2 LINGO1 PEAK1 TSPAN3 HMG20A LOC105370906
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IREB2 on UCSC Golden Path with GeneCards custom track

Promoters for IREB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079750 1069 2201 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for IREB2 Gene

Chromosome:
15
Start:
78,437,431 bp from pter
End:
78,501,456 bp from pter
Size:
64,026 bases
Orientation:
Plus strand

Genomic View for IREB2 Gene

Genes around IREB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IREB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IREB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IREB2 Gene

Proteins for IREB2 Gene

  • Protein details for IREB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48200-IREB2_HUMAN
    Recommended name:
    Iron-responsive element-binding protein 2
    Protein Accession:
    P48200
    Secondary Accessions:
    • A8KAC7
    • E1CJT9
    • H0YKU0
    • Q13095
    • Q1HE21
    • Q59FQ7
    • Q8WVK6
    • Q9UF17

    Protein attributes for IREB2 Gene

    Size:
    963 amino acids
    Molecular mass:
    105045 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Interacts with RBCK1 isoform 1 and isoform 2 only in iron-rich conditions. Interacts (when associated with the 4Fe-4S) with FBXL5.
    SequenceCaution:
    • Sequence=AAA79926.1; Type=Frameshift; Positions=605, 611; Evidence={ECO:0000305}; Sequence=BAD92640.1; Type=Frameshift; Positions=727; Evidence={ECO:0000305};

    Alternative splice isoforms for IREB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IREB2 Gene

Selected DME Specific Peptides for IREB2 Gene

P48200:
  • ANYLASP
  • TTDHISPAG
  • SIRVLLE
  • LGDSVTTDHISPA
  • GPKRPQD

Post-translational modifications for IREB2 Gene

  • 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.
  • Ubiquitination at isoforms=234, isoforms=270, isoforms=272, posLast=107107, posLast=136136, posLast=152152, isoforms=2216, posLast=233233, posLast=404404, isoforms=413, isoforms=449, posLast=461461, posLast=471471, isoforms=475, posLast=611611, posLast=714714, isoforms=769, posLast=803803, isoforms=807, isoforms=836, isoforms=848, posLast=860860, posLast=868868, and isoforms=880
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IREB2 (IREB2)
  • Abcam antibodies for IREB2

Domains & Families for IREB2 Gene

Suggested Antigen Peptide Sequences for IREB2 Gene

Graphical View of Domain Structure for InterPro Entry

P48200

UniProtKB/Swiss-Prot:

IREB2_HUMAN :
  • Belongs to the aconitase/IPM isomerase family.
Family:
  • Belongs to the aconitase/IPM isomerase family.
genes like me logo Genes that share domains with IREB2: view

No data available for Gene Families for IREB2 Gene

Function for IREB2 Gene

Molecular function for IREB2 Gene

GENATLAS Biochemistry:
iron responsive element binding protein 2,structurally related to aconitase
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for IREB2 Gene

Gene Ontology (GO) - Molecular Function for IREB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 9924025
GO:0005515 protein binding IPI 19762596
GO:0030350 iron-responsive element binding IEA,TAS 9924025
GO:0030371 translation repressor activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with IREB2: view
genes like me logo Genes that share phenotypes with IREB2: view

Animal Models for IREB2 Gene

MGI Knock Outs for IREB2:

Animal Model Products

CRISPR Products

miRNA for IREB2 Gene

miRTarBase miRNAs that target IREB2

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IREB2 Gene

Localization for IREB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IREB2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IREB2 gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2

Gene Ontology (GO) - Cellular Components for IREB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS,IEA 7983023
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with IREB2: view

Pathways & Interactions for IREB2 Gene

genes like me logo Genes that share pathways with IREB2: view

Pathways by source for IREB2 Gene

1 Cell Signaling Technology pathway for IREB2 Gene

SIGNOR curated interactions for IREB2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for IREB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006826 iron ion transport IEA,TAS 9924025
GO:0006879 cellular iron ion homeostasis TAS,IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with IREB2: view

Drugs & Compounds for IREB2 Gene

(15) Drugs for IREB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for IREB2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with IREB2: view

Transcripts for IREB2 Gene

Unigene Clusters for IREB2 Gene

Iron-responsive element binding protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IREB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5: - -
SP6:
SP7:

ExUns: 24a · 24b ^ 25
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for IREB2 Gene

GeneLoc Exon Structure for
IREB2
ECgene alternative splicing isoforms for
IREB2

Expression for IREB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IREB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IREB2 Gene

This gene is overexpressed in Cerebrospinal fluid (13.0), Plasma (7.3), and Esophagus (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IREB2 Gene



NURSA nuclear receptor signaling pathways regulating expression of IREB2 Gene:

IREB2

SOURCE GeneReport for Unigene cluster for IREB2 Gene:

Hs.436031

Evidence on tissue expression from TISSUES for IREB2 Gene

  • Nervous system(4.7)
  • Intestine(2.8)
  • Liver(2.5)
  • Spleen(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with IREB2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IREB2 Gene

Orthologs for IREB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IREB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IREB2 34 35
  • 99.83 (n)
cow
(Bos Taurus)
Mammalia IREB2 34 35
  • 94.39 (n)
mouse
(Mus musculus)
Mammalia Ireb2 34 16 35
  • 91.36 (n)
rat
(Rattus norvegicus)
Mammalia Ireb2 34
  • 91.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 89 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia IREB2 34 35
  • 88.47 (n)
oppossum
(Monodelphis domestica)
Mammalia IREB2 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves IREB2 34 35
  • 77.55 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ireb2 34
  • 67.55 (n)
zebrafish
(Danio rerio)
Actinopterygii ireb2 34 35
  • 62.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta Irp-1B 35
  • 57 (a)
ManyToMany
Irp-1A 35
  • 56 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea aco-1 35
  • 55 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO2 35
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.544 35
  • 56 (a)
OneToMany
Species where no ortholog for IREB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IREB2 Gene

ENSEMBL:
Gene Tree for IREB2 (if available)
TreeFam:
Gene Tree for IREB2 (if available)

Paralogs for IREB2 Gene

Paralogs for IREB2 Gene

genes like me logo Genes that share paralogs with IREB2: view

Variants for IREB2 Gene

Sequence variations from dbSNP and Humsavar for IREB2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000018682 -- 78,438,541(+) GGGGC(C/T)CCCGA intron-variant, utr-variant-5-prime
rs1000072520 -- 78,475,006(+) GCCGA(C/G)ATTGC intron-variant
rs1000320418 -- 78,469,816(+) TGATA(C/T)TCTAG intron-variant
rs1000371154 -- 78,444,483(+) TTCAC(C/T)CTTTC intron-variant
rs1000379954 -- 78,460,391(+) CAACT(C/G)TCATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IREB2 Gene

Variant ID Type Subtype PubMed ID
esv3636983 CNV loss 21293372
nsv1116464 OTHER inversion 24896259
nsv833063 CNV loss 17160897

Variation tolerance for IREB2 Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IREB2 Gene

Human Gene Mutation Database (HGMD)
IREB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IREB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IREB2 Gene

Disorders for IREB2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IREB2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microcytic anemia
  • iron-refractory iron deficiency anemia
hyperferritinemia-cataract syndrome
  • hyperferritinemia with or without cataract
hemochromatosis
  • hfe hemochromatosis, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search IREB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for IREB2

Genetic Association Database (GAD)
IREB2
Human Genome Epidemiology (HuGE) Navigator
IREB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IREB2
genes like me logo Genes that share disorders with IREB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IREB2 Gene

Publications for IREB2 Gene

  1. Control of iron homeostasis by an iron-regulated ubiquitin ligase. (PMID: 19762596) Vashisht A.A. … Wohlschlegel J.A. (Science 2009) 3 4 22 64
  2. An E3 ligase possessing an iron responsive hemerythrin domain is a regulator of iron homeostasis. (PMID: 19762597) Salahudeen A.A. … Bruick R.K. (Science 2009) 3 4 22 64
  3. Preliminary demonstration of an allelic association of the IREB2 gene with Alzheimer's disease. (PMID: 16914832) Coon K.D. … Kirsch W.M. (J. Alzheimers Dis. 2006) 3 22 46 64
  4. Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2. (PMID: 12629548) Yamanaka K. … Iwai K. (Nat. Cell Biol. 2003) 3 4 22 64
  5. Polymorphisms in iron-responsive binding protein 2 and lack of association with sporadic Parkinson's disease. (PMID: 12465072) Lee P.L. … Beutler E. (Mov. Disord. 2002) 3 22 46 64

Products for IREB2 Gene

Sources for IREB2 Gene

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