Gene
ireb2
- ID
- ZDB-GENE-051205-1
- Name
- iron-responsive element binding protein 2
- Symbol
- ireb2 Nomenclature History
- Previous Names
-
- IRP2 (1)
- im:7153062
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable 4 iron, 4 sulfur cluster binding activity; aconitate hydratase activity; and iron-responsive element binding activity. Predicted to be involved in intracellular iron ion homeostasis. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in blood and presumptive blood. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human IREB2 (iron responsive element binding protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153062 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Thyme et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
a287 | Allele with multiple variants | Unknown | Unknown | CRISPR | |
sa3307 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa5705 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa12679 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa14739 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa24600 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa44228 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-ireb2 | Thyme et al., 2019 | |
CRISPR2-ireb2 | Thyme et al., 2019 | |
CRISPR3-ireb2 | Thyme et al., 2019 | |
CRISPR4-ireb2 | Thyme et al., 2019 | |
MO1-ireb2 | N/A | Wingert et al., 2005 |
MO2-ireb2 | N/A | Wingert et al., 2005 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 618451 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Binding_site | IPR018136 | Aconitase family, 4Fe-4S cluster binding site |
Domain | IPR000573 | Aconitase A/isopropylmalate dehydratase small subunit, swivel domain |
Domain | IPR001030 | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain |
Domain | IPR044137 | Aconitase A, swivel domain |
Family | IPR006249 | Aconitase/Iron-responsive element-binding protein 2 |
Homologous_superfamily | IPR015928 | Aconitase/3-isopropylmalate dehydratase, swivel |
Homologous_superfamily | IPR015931 | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 |
Homologous_superfamily | IPR036008 | Aconitase, iron-sulfur domain |
Domain Details Per Protein
Protein | Additional Resources | Length | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha domain | Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 | Aconitase/3-isopropylmalate dehydratase, swivel | Aconitase A/isopropylmalate dehydratase small subunit, swivel domain | Aconitase A, swivel domain | Aconitase family, 4Fe-4S cluster binding site | Aconitase/Iron-responsive element-binding protein 2 | Aconitase, iron-sulfur domain |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:F1QNR8 | InterPro | 974 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-275P19 | ZFIN Curated Data | |
Encodes | EST | IMAGE:7153062 | Thisse et al., 2004 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_005162972 (1) | 3743 nt | ||
Genomic | GenBank:BX296538 (1) | 192787 nt | ||
Polypeptide | UniProtKB:F1QNR8 (1) | 974 aa |
- Guo, J., Zou, Z., Dou, X., Zhao, X., Wang, Y., Wei, L., Pi, Y., Wang, Y., He, C., Guo, S. (2024) Zebrafish Mbd5 binds to RNA m5C and regulates histone deubiquitylation and gene expression in development metabolism and behavior. Nucleic acids research. 52(8):4257-4275
- Thyme, S.B., Pieper, L.M., Li, E.H., Pandey, S., Wang, Y., Morris, N.S., Sha, C., Choi, J.W., Herrera, K.J., Soucy, E.R., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S.A., Schier, A.F. (2019) Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell. 177(2):478-491.e20
- Ripa, R., Dolfi, L., Terrigno, M., Pandolfini, L., Savino, A., Arcucci, V., Groth, M., Terzibasi Tozzini, E., Baumgart, M., Cellerino, A. (2017) MicroRNA miR-29 controls a compensatory response to limit neuronal iron accumulation during adult life and aging. BMC Biology. 15:9
- Xiao, B., Cui, L.Q., Ding, C., Wang, H. (2017) Effects of Lithium and 2,4-Dichlorophenol on Zebrafish: Circadian Rhythm Disorder and Molecular Effects. Zebrafish. 14(3):209-215
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Wingert, R.A., Galloway, J.L., Barut, B., Foott, H., Fraenkel, P., Axe, J.L., Weber, G.J., Dooley, K., Davidson, A.J., Schmid, B., Paw, B.H., Shaw, G.C., Kingsley, P., Palis, J., Schubert, H., Chen, O., Kaplan, J., Zon, L.I., Tübingen 2000 Screen Consortium. (2005) Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis. Nature. 436(7053):1035-1039
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