Gene
irf2bpl
- ID
- ZDB-GENE-040426-1968
- Name
- interferon regulatory factor 2 binding protein-like
- Symbol
- irf2bpl Nomenclature History
- Previous Names
-
- wu:fc39d10
- wu:fj46f11
- zgc:73290
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable transcription corepressor activity. Acts upstream of or within negative regulation of Wnt signaling pathway; regulation of action potential firing pattern; and swimming behavior. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures. Orthologous to human IRF2BPL (interferon regulatory factor 2 binding protein like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Marcogliese et al., 2022
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-irf2bpl | Marcogliese et al., 2022 | |
CRISPR2-irf2bpl | Wang et al., 2024 | |
CRISPR3-irf2bpl | Wang et al., 2024 | |
CRISPR4-irf2bpl | Wang et al., 2024 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | Alliance | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 618088 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Interferon regulatory factor 2-binding protein 1/2, C3HC4-type RING finger superfamily | Interferon regulatory factor 2-binding protein 1 & 2, zinc finger |
---|---|---|---|---|
UniProtKB:Q6P947 | InterPro | 662 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
irf2bpl-201
(1)
|
Ensembl | 2,796 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH73-34C17 | ZFIN Curated Data | |
Encodes | EST | fc39d10 | ZFIN Curated Data | |
Encodes | EST | fj46f11 | ZFIN Curated Data | |
Encodes | cDNA | MGC:73290 | ZFIN Curated Data | |
Encodes | cDNA | MGC:77204 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_212687 (1) | 2817 nt | ||
Genomic | GenBank:FP102895 (1) | 138257 nt | ||
Polypeptide | UniProtKB:Q6P947 (1) | 662 aa |
- Wang, Y., Ke, Z., Li, Y., Qiu, M., Liu, J., Yang, Z., Wen, S., Liang, M., Chen, S. (2024) De novo variants of IRF2BPL result in developmental epileptic disorder. Orphanet journal of rare diseases. 19:121121
- Marcogliese, P.C., Dutta, D., Ray, S.S., Dang, N.D.P., Zuo, Z., Wang, Y., Lu, D., Fazal, F., Ravenscroft, T.A., Chung, H., Kanca, O., Wan, J., Douine, E.D., Network, U.D., Pena, L.D.M., Yamamoto, S., Nelson, S.F., Might, M., Meyer, K.C., Yeo, N.C., Bellen, H.J. (2022) Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Science advances. 8:eabl5613
- 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
- Briolat, V., Jouneau, L., Carvalho, R., Palha, N., Langevin, C., Herbomel, P., Schwartz, O., Spaink, H.P., Levraud, J.P., Boudinot, P. (2014) Contrasted Innate Responses to Two Viruses in Zebrafish: Insights into the Ancestral Repertoire of Vertebrate IFN-Stimulated Genes. Journal of immunology (Baltimore, Md. : 1950). 192:4328-41
- Shkumatava, A., Stark, A., Sive, H., and Bartel, D.P. (2009) Coherent but overlapping expression of microRNAs and their targets during vertebrate development. Genes & Development. 23(4):466-481
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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