IREB2 iron-responsive element binding protein 2 [Homo sapiens] - Gene

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Summary

Official Symbol: IREB2provided by HGNC
Official Full Name: iron-responsive element binding protein 2provided by HGNC
Primary source: HGNC:6115
See related: Ensembl:ENSG00000136381; HPRD:08858; MIM:147582; Vega:OTTHUMG00000143861
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACO3; IRP2; IRP2AD; FLJ23381

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Genomic context

Location :: 15q25.1

Sequence :: Chromosome: 15; NC_000015.9 (78730518..78793798)

See IREB2 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

IRP2 may affect the expressions of transferrin receptor and ferritin in lung adenocarcinoma A549 cells by changing the amount of protein and regulating the iron metabolism.
Title: [Regulating action of iron regulatory protein-2 in iron metabolism of lung cancer].
under physiological, iron-sufficient conditions, the steady-state level of IRP2 in HEK293A cells is regulated by the nonproteasomal pathway.
Title: Iron regulatory protein 2 turnover through a nonproteasomal pathway.
an apparent pro-oncogenic activity of IRP2 depends on its specific 73 amino acids insert, providing further evidence for a link between IRPs and cancer biology.
Title: Tumorigenic properties of iron regulatory protein 2 (IRP2) mediated by its specific 73-amino acids insert.
confirmed that the IREB2 locus is a contributor to COPD susceptibility and suggested a new pathway in COPD pathogenesis invoking iron homeostasis
Title: The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.
variants in the IREB2 gene were only significantly associated with FEV.
Title: Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease.
IREB2 has a role as a COPD susceptibility gene
Title: Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene.
iron-independent mechanism for regulating iron homeostasis through the redox regulation of IRP2 cysteines.
Title: Cysteine oxidation regulates the RNA-binding activity of iron regulatory protein 2.
A role for lysosomes in the turnover of IRP2 is reported.
Title: A role for lysosomes in the turnover of human iron regulatory protein 2.
reversible phosphorylation of IRP2 during G(2)/M has a role in modulating the iron-independent expression of ferritin and other IRE-containing mRNAs during the cell cycle.
Title: Iron-independent phosphorylation of iron regulatory protein 2 regulates ferritin during the cell cycle.
These data demonstrate that HOIL-1 is not required for iron-dependent degradation of IRP2 in HEK293 cells, and suggest that a HOIL-1 independent mechanism is used for IRP2 degradation in most cell types.
Title: HOIL-1 is not required for iron-mediated IRP2 degradation in HEK293 cells.

Submit: New GeneRIF Correction See all (25)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.

Variants in FAM13A are associated with chronic obstructive pulmonary disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_004127.1	NP_004550.2	YBX1	BIND	PubMed	YB-1 interacts with IRP2.
P48200	P67809	YBX1	HPRD	PubMed
BioGRID:109866	BioGRID:117625	FBXL5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109866	BioGRID:111657	PSMA3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109866	BioGRID:115862	RBCK1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:109866	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109866	BioGRID:113269	VHL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109866	BioGRID:110959	YBX1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
RNA binding	IDA Inferred from Direct Assay more info	PubMed
RNA binding	TAS Traceable Author Statement 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

Process	Evidence Code	Pubs
cellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
erythrocyte homeostasis	IEA Inferred from Electronic Annotation more info
intestinal absorption	IEA Inferred from Electronic Annotation more info
iron ion transport	TAS Traceable Author Statement more info	PubMed
metabolic process	IEA Inferred from Electronic Annotation more info
osteoclast differentiation	IEA Inferred from Electronic Annotation more info
post-embryonic development	IEA Inferred from Electronic Annotation more info
protoporphyrinogen IX biosynthetic process	IEA Inferred from Electronic Annotation more info
regulation of gene expression	IEA Inferred from Electronic Annotation more info
regulation of translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	NAS Non-traceable Author Statement more info	PubMed
cytosol	IEA Inferred from Electronic Annotation more info
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: iron-responsive element-binding protein 2

Names: iron-responsive element-binding protein 2; IRE-BP 2; iron regulatory protein 2

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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)

NM_004136.2 → NP_004127.1 iron-responsive element-binding protein 2

Status: VALIDATED

Source sequence(s)

AC011270, AC027228, AL133439, BC117481, CN290278

Consensus CDS

CCDS10302.1

UniProtKB/TrEMBL

D3DW85

UniProtKB/Swiss-Prot

P48200

Related

ENSP00000258886, OTTHUMP00000185022, ENST00000258886, OTTHUMT00000290109

Conserved Domains (4) summary

cd01580
Location:745 – 913
Blast Score: 767

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 ...

cd01586
Location:211 – 641
Blast Score: 1518

AcnA_IRP; Aconitase A catalytic domain

PTZ00092
Location:10 – 136
Blast Score: 508

PTZ00092; aconitate hydratase-like protein; Provisional

cl00285
Location:84 – 144
Blast Score: 281

Aconitase; Aconitase catalytic domain; Aconitase catalyzes the reversible isomerization of citrate and isocitrate as part of the TCA cycle

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

78730518..78793798

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

55487914..55551183

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC011270.9	None
genomic	AC027228.16 (95557..134393)	None
genomic	CH471136.2	EAW99169.1
		EAW99170.1
		EAW99171.1
genomic	DQ496102.1	ABF47091.1
mRNA	AB209403.1	BAD92640.1
mRNA	AK027033.1	None
mRNA	AK027034.1	None
mRNA	AK292992.1	BAF85681.1
mRNA	AL133439.1	CAB62825.1
mRNA	BC017880.1	AAH17880.1
mRNA	BC117481.1	AAI17482.1
mRNA	BC117483.1	AAI17484.1
mRNA	BC143948.1	None
mRNA	BX340905.2	None
mRNA	CN290278.1	None
mRNA	M58511.1	AAA69901.1
mRNA	U20180.1	AAA79926.1
other-genetic	HQ258663.1	ADR83414.1