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Aliases for IREB2 Gene

Aliases for IREB2 Gene

  • Iron-Responsive Element Binding Protein 2 2 3
  • Iron Regulatory Protein 2 3 4
  • IRE-BP 2 3 4
  • IRP2 3 4
  • EC 4.2.1.3 63
  • 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 hyperferritinemia-cataract syndrome and hemochromatosis. Among its related pathways are Validated targets of C-MYC transcriptional activation and Iron metabolism in placenta. 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 , 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 [4Fe-4S] cluster per subunit. [4Fe-4S]-binding affects RNA-binding activity, thereby inhibiting activity of the protein.;
    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

Proteomics data for IREB2 Gene at MOPED

Selected DME Specific Peptides for IREB2 Gene

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 Lys 34, Lys 70, Lys 72, Lys 107, Lys 136, Lys 152, Lys 216, Lys 233, Lys 404, Lys 413, Lys 449, Lys 461, Lys 471, Lys 475, Lys 611, Lys 714, Lys 769, Lys 803, Lys 807, Lys 836, Lys 848, Lys 860, Lys 868, and Lys 880
  • Modification sites at PhosphoSitePlus

Other Protein References for IREB2 Gene

Antibody Products

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 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

miRNA for IREB2 Gene

miRTarBase miRNAs that target IREB2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IREB2

In Situ Assay Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for IREB2 Gene COMPARTMENTS Subcellular localization image for IREB2 gene
Compartment Confidence
cytosol 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for IREB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm NAS 7983023
GO:0005739 mitochondrion --
GO:0005829 cytosol --
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

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 --
GO:0006782 protoporphyrinogen IX biosynthetic process --
GO:0006826 iron ion transport TAS 9924025
GO:0006879 cellular iron ion homeostasis IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with IREB2: view

Drugs & Compounds for IREB2 Gene

(12) Drugs for IREB2 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma 128
Deferoxamine Approved, Investigational Pharma 44
Ethanol Approved Pharma 1708
Iron Approved Pharma 957
Nitric Oxide Approved Pharma 540

(13) 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
2-MERCAPTOETHANOL
Actinomycin D
Fe3+
  • Fe(III)
  • Ferric ion
  • Iron(3+)
7439-89-6
ferric ammonium citrate
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IREB2

Flow Cytometry 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 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, MOPED, and MaxQB for IREB2 Gene



SOURCE GeneReport for Unigene cluster for IREB2 Gene Hs.436031

genes like me logo Genes that share expression patterns with IREB2: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia IREB2 35
  • 94.39 (n)
  • 96.12 (a)
IREB2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IREB2 35
  • 88.47 (n)
  • 92.63 (a)
IREB2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ireb2 35
  • 91.36 (n)
  • 93.96 (a)
Ireb2 16
Ireb2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IREB2 35
  • 99.83 (n)
  • 99.69 (a)
IREB2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ireb2 35
  • 91.09 (n)
  • 94.07 (a)
oppossum
(Monodelphis domestica)
Mammalia IREB2 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves IREB2 35
  • 77.55 (n)
  • 82.43 (a)
IREB2 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ireb2 35
  • 67.55 (n)
  • 68.57 (a)
zebrafish
(Danio rerio)
Actinopterygii ireb2 35
  • 62.47 (n)
  • 66.77 (a)
ireb2 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Irp-1A 36
  • 56 (a)
ManyToMany
Irp-1B 36
  • 57 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea aco-1 36
  • 55 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ACO2 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.544 36
  • 56 (a)
OneToMany
Species with no ortholog for IREB2:
  • 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

Pseudogenes.org Pseudogenes 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 MAF
rs3417 -- 78,501,318(-) ACACT(G/T)TTTTG utr-variant-3-prime
rs13180 -- 78,497,146(+) TTGGC(C/T)GAAAG reference, synonymous-codon
rs905741 -- 78,461,604(-) TCTAA(A/C/T)CATTG intron-variant
rs905742 -- 78,461,133(-) gaaca(C/T)ggaac intron-variant
rs924840 -- 78,439,466(-) ATGTG(A/T)TAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833063 CNV Loss 17160897

Variation tolerance for IREB2 Gene

Residual Variation Intolerance Score: 23.81% 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

HapMap Linkage Disequilibrium report
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
hyperferritinemia-cataract syndrome
  • hyperferritinemia cataract syndrome
hemochromatosis
  • hfe hemochromatosis, modifier of
parkinson disease, late-onset
  • kufor-rakeb syndrome
- elite association
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. mRNA expression of proteins involved in iron homeostasis in brain regions is altered by age and by iron overloading in the neonatal period. (PMID: 19943190) Dornelles A.S. … SchrAPder N. (Neurochem. Res. 2010) 23 67
  2. A case report of spontaneous mutation (C33>U) in the iron-responsive element of L-ferritin causing hyperferritinemia-cataract syndrome. (PMID: 19800271) Cao W. … Clarkson M. (Blood Cells Mol. Dis. 2010) 23 67
  3. Up-regulation of divalent metal transporter 1 in 6-hydroxydopamine intoxication is IRE/IRP dependent. (PMID: 20125122) Jiang H. … Xie J. (Cell Res. 2010) 23 67
  4. Tumorigenic properties of iron regulatory protein 2 (IRP2) mediated by its specific 73-amino acids insert. (PMID: 20405006) Maffettone C. … Pantopoulos K. (PLoS ONE 2010) 23 67
  5. Cysteine oxidation regulates the RNA-binding activity of iron regulatory protein 2. (PMID: 19223469) Zumbrennen K.B. … Leibold E.A. (Mol. Cell. Biol. 2009) 23 67

Products for IREB2 Gene

Sources for IREB2 Gene

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