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IREB2 iron responsive element binding protein 2 [ Homo sapiens (human) ]

Gene ID: 3658, updated on 28-Oct-2018

Summary

Official Symbol
IREB2provided by HGNC
Official Full Name
iron responsive element binding protein 2provided by HGNC
Primary source
HGNC:HGNC:6115
See related
Ensembl:ENSG00000136381 MIM:147582; Vega:OTTHUMG00000143861
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACO3; IRP2; IRP2AD; IRE-BP2; IRE-BP 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]
Expression
Ubiquitous expression in thyroid (RPKM 9.5), adrenal (RPKM 8.3) and 25 other tissues See more
Orthologs

Genomic context

See IREB2 in Genome Data Viewer
Location:
15q25.1
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (78437431..78501456)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78730518..78793798)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene RWD domain containing 1 pseudogene 1 Neighboring gene uncharacterized LOC105370912 Neighboring gene hydroxylysine kinase Neighboring gene proteasome subunit alpha 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
NHGRI GWA Catalog
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding TAS
Traceable Author Statement
more info
PubMed 
aconitate hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron-responsive element binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron-responsive element binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
iron-responsive element binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
regulatory region RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation repressor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aging IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular iron ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular iron ion homeostasis TAS
Traceable Author Statement
more info
 
cellular response to epidermal growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to iron(III) ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to manganese ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to mercaptoethanol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to oxygen-glucose deprivation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to retinoic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
citrate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
erythrocyte homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
iron ion transport TAS
Traceable Author Statement
more info
PubMed 
negative regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
osteoclast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-embryonic development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protoporphyrinogen IX biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to copper ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to hypobaric hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to iron(II) ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to iron(III) ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to kainic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to retinoic acid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to zinc ion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle atrophy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
iron-responsive element-binding protein 2
Names
iron regulatory protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320941.1NP_001307870.1  iron-responsive element-binding protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, BC143948, DB090313, U20180
    UniProtKB/Swiss-Prot
    P48200
    Conserved Domains (2) summary
    cd01580
    Location:495663
    AcnA_IRP_Swivel; Aconitase A swivel domain. This is the major form of the TCA cycle enzyme aconitate hydratase, also known as aconitase and citrate hydro-lyase. It includes bacterial and archaeal aconitase A, and the eukaryotic cytosolic form of aconitase. This group ...
    cl00285
    Location:1391
    Aconitase; Aconitase catalytic domain; Aconitase catalyzes the reversible isomerization of citrate and isocitrate as part of the TCA cycle
  2. NM_001320942.1NP_001307871.1  iron-responsive element-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, AK027033, DB069920
    Conserved Domains (1) summary
    cl28376
    Location:2904
    AcnA; Aconitase A [Energy production and conversion]
  3. NM_001320943.1NP_001307872.1  iron-responsive element-binding protein 2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, BC017880
    Consensus CDS
    CCDS81912.1
    UniProtKB/Swiss-Prot
    P48200
    Related
    ENSP00000452938.1, OTTHUMP00000248684, ENST00000560440.5, OTTHUMT00000419099
    Conserved Domains (1) summary
    cl00285
    Location:84342
    Aconitase; Aconitase catalytic domain; Aconitase catalyzes the reversible isomerization of citrate and isocitrate as part of the TCA cycle
  4. NM_001354994.1NP_001341923.1  iron-responsive element-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC027228, AK027033, DB087461
    Conserved Domains (1) summary
    cl28376
    Location:2904
    AcnA; Aconitase A [Energy production and conversion]
  5. NM_004136.3NP_004127.1  iron-responsive element-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_004127.1

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, BC117481
    Consensus CDS
    CCDS10302.1
    UniProtKB/Swiss-Prot
    P48200
    UniProtKB/TrEMBL
    D3DW85
    Related
    ENSP00000258886.8, OTTHUMP00000185022, ENST00000258886.12, OTTHUMT00000290109
    Conserved Domains (3) summary
    cd01586
    Location:84641
    AcnA_IRP; Aconitase A catalytic domain
    cd01580
    Location:745913
    AcnA_IRP_Swivel; Aconitase A swivel domain. This is the major form of the TCA cycle enzyme aconitate hydratase, also known as aconitase and citrate hydro-lyase. It includes bacterial and archaeal aconitase A, and the eukaryotic cytosolic form of aconitase. This group ...
    PTZ00092
    Location:10961
    PTZ00092; aconitate hydratase-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    78437431..78501456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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