Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3658
Gene name Gene Name - the full gene name approved by the HGNC.
Iron responsive element binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IREB2
Synonyms (NCBI Gene) Gene synonyms aliases
ACO3, IRE-BP 2, IRE-BP2, IRP2, IRP2AD, NDCAMA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NDCAMA
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IDA 7983023
GO:0003723 Function RNA binding TAS 9924025
GO:0003994 Function Aconitate hydratase activity IBA 21873635
GO:0005515 Function Protein binding IPI 19762596, 19762597, 23891004
GO:0005737 Component Cytoplasm NAS 7983023
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147582 6115 ENSG00000136381
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Iron-Refractory Iron Deficiency Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
19836008
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 18978790, 19654303, 22899653
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 21921092, 25241909, 25101718, 22080838, 29767774, 26634245, 20173748 ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Insomnia Insomnia GWAS
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28181565
alpha 1 Antitrypsin Deficiency Associate 22356581
Alzheimer Disease Associate 16914832, 17408857
Anemia Associate 17485548, 30915432
Carcinogenesis Associate 28281325
Carcinoma Non Small Cell Lung Associate 28404645
Cholangiocarcinoma Associate 36111744
Chorea Associate 30915432
Colorectal Neoplasms Associate 24078156
Colorectal Neoplasms Stimulate 28281325