Gene Gene information from NCBI Gene database.
Entrez ID 3658
Gene name Iron responsive element binding protein 2
Gene symbol IREB2
Synonyms (NCBI Gene)
ACO3IRE-BP 2IRE-BP2IRP2IRP2ADNDCAMA
Chromosome 15
Chromosome location 15q25.1
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, t
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs779567692 C>A,G,T Pathogenic, likely-pathogenic Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, synonymous variant
rs1566982116 G>T Pathogenic, likely-pathogenic Coding sequence variant, 3 prime UTR variant, stop gained
rs1596009225 ATC>- Pathogenic Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1596016998 G>A Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
947
miRTarBase ID miRNA Experiments Reference
MIRT021362 hsa-miR-9-5p Microarray 17612493
MIRT030688 hsa-miR-21-5p Microarray 18591254
MIRT040337 hsa-miR-615-3p CLASH 23622248
MIRT711721 hsa-miR-6808-5p HITS-CLIP 19536157
MIRT711720 hsa-miR-6893-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000900 Function MRNA regulatory element binding translation repressor activity EXP 1946430, 7983023, 8041788
GO:0000900 Function MRNA regulatory element binding translation repressor activity IEA
GO:0003723 Function RNA binding IDA 7983023
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding TAS 9924025
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147582 6115 ENSG00000136381
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48200
Protein name Iron-responsive element-binding protein 2 (IRE-BP 2) (Iron regulatory protein 2) (IRP2)
Protein 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 e
PDB 6VCD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00330 Aconitase 61 145 Aconitase family (aconitate hydratase) Family
PF00330 Aconitase 184 639 Aconitase family (aconitate hydratase) Family
PF00694 Aconitase_C 767 896 Aconitase C-terminal domain Domain
Sequence
MDAPKAGYAFEYLIETLNDSSHKKFFDVSKLGTKYDVLPYSIRVLLEAAVRNCDGFLMKK
EDVMNILDWKTKQSNVEVPFFPARVLLQDFTGIPAMVDFAAMREAVKTLGGDPEKVHPAC
PTDLTVDHSLQIDFSKCAIQNAPNP
GGGDLQKAGKLSPLKVQPKKLPCRGQTTCRGSCDS
GELGRNSGTFSSQIENTPILCPFHLQPVPEPETVLKNQEVEFGRNRERLQFFKWSSRVFK
NVAVIPPGTGMAHQINLEYLSRVVFEEKDLLFPDSVVGTDSHITMVNGLGILGWGVGGIE
TEAVMLGLPVSLTLPEVVGCELTGSSNPFVTSIDVVLGITKHLRQVGVAGKFVEFFGSGV
SQLSIVDRTTIANMCPEYGAILSFFPVDNVTLKHLEHTGFSKAKLESMETYLKAVKLFRN
DQNSSGEPEYSQVIQINLNSIVPSVSGPKRPQDRVAVTDMKSDFQACLNEKVGFKGFQIA
AEKQKDIVSIHYEGSEYKLSHGSVVIAAVISCTNNCNPSVMLAAGLLAKKAVEAGLRVKP
YIRTSLSPGSGMVTHYLSSSGVLPYLSKLGFEIVGYGCSICVGNTAPLSDAVLNAVKQGD
LVTCGILSGNKNFEGRLCDCVRANYLASPPLVVAYAIAG
TVNIDFQTEPLGTDPTGKNIY
LHDIWPSREEVHRVEEEHVILSMFKALKDKIEMGNKRWNSLEAPDSVLFPWDLKSTYIRC
PSFFDKLTKEPIALQAIENAHVLLYLGDSVTTDHISPAGSIARNSAAAKYLTNRGLTPRE
FNSYGARRGNDAVMTRGTFANIKLFNKFIGKPAPKTIHFPSGQTLDVFEAAELYQKEGIP
LIILAGKKYGSGNSRDWAAKGPYLLGVKAVLAESYEKIHKDHLIGIGIAPLQFLPG
ENAD
SLGLSGRETFSLTFPEELSPGITLNIQTSTGKVFSVIASFEDDVEITLYKHGGLLNFVAR
KFS
Sequence length 963
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Iron uptake and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia Likely pathogenic rs779567692, rs1566982116 RCV000853518
RCV000781946
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA Likely pathogenic rs779567692, rs1566982116 RCV000781945
RCV000855550
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19223495
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 22356581
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 16914832, 17408857 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 16850017, 17485548, 27545647
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 17485548, 30915432 Associate
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28281325 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 20587604, 22539604, 25117307, 26310313, 28404645, 28453699, 31696517
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 36111744 Associate
★☆☆☆☆
Found in Text Mining only