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

Gene ID: 3658, updated on 4-Jan-2025

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; AllianceGenome:HGNC:6115
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; NDCAMA; 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
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Genomic context

See IREB2 in Genome Data Viewer
Location:
15q25.1
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78437431..78501453)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (76300098..76364103)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78729773..78793795)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr15:78679989-78680490 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:78682970-78684169 Neighboring gene RWD domain containing 1 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:78687919-78688419 Neighboring gene uncharacterized LOC105370912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78759180-78759680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78759681-78760181 Neighboring gene hydroxylysine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:78833042-78833934 Neighboring gene proteasome 20S subunit alpha 4

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ23381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding  
enables RNA binding PubMed 
enables RNA binding PubMed 
enables aconitate hydratase activity  
enables iron-responsive element binding  
enables iron-responsive element binding PubMed 
enables iron-responsive element binding PubMed 
enables mRNA regulatory element binding translation repressor activity PubMed 
enables metal ion binding  
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in citrate metabolic process  
involved_in erythrocyte homeostasis  
involved_in intestinal absorption  
involved_in intracellular iron ion homeostasis PubMed 
involved_in intracellular iron ion homeostasis  
involved_in mRNA stabilization PubMed 
involved_in multicellular organismal-level iron ion homeostasis  
involved_in negative regulation of translation  
involved_in osteoclast differentiation  
involved_in post-embryonic development  
involved_in protoporphyrinogen IX biosynthetic process  
involved_in tricarboxylic acid cycle  
Component Evidence Code Pubs
located_in cytoplasm PubMed 
is_active_in cytosol  
located_in cytosol  
is_active_in mitochondrion  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001320941.2NP_001307870.2  iron-responsive element-binding protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, KF459563
    Conserved Domains (1) summary
    PTZ00092
    Location:3711
    PTZ00092; aconitate hydratase-like protein; Provisional
  2. NM_001320942.2NP_001307871.2  iron-responsive element-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, KF459563
    Conserved Domains (1) summary
    PTZ00092
    Location:2904
    PTZ00092; aconitate hydratase-like protein; Provisional
  3. NM_001320943.2NP_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, ENST00000560440.5
    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_001354994.2NP_001341923.2  iron-responsive element-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, KF459563
    Conserved Domains (1) summary
    PTZ00092
    Location:2904
    PTZ00092; aconitate hydratase-like protein; Provisional
  5. NM_004136.4NP_004127.2  iron-responsive element-binding protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011270, AC027228, KF459563
    Consensus CDS
    CCDS10302.1
    UniProtKB/Swiss-Prot
    A0A0A6YY96, A8KAC7, E1CJT9, H0YKU0, P48200, Q13095, Q1HE21, Q59FQ7, Q8WVK6, Q9UF17
    Related
    ENSP00000258886.8, ENST00000258886.13
    Conserved Domains (1) summary
    cl28376
    Location:10961
    AcnA; Aconitase A [Energy production and conversion]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    78437431..78501453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    76300098..76364103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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