Gene
znf526
- ID
- ZDB-GENE-100922-260
- Name
- zinc finger protein 526
- Symbol
- znf526 Nomenclature History
- Previous Names
-
- si:dkey-165g20.1
- si:dkey-165g20.2
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Orthologous to several human genes including ZNF574 (zinc finger protein 574).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Dentici et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa2857 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-znf526 | Dentici et al., 2021 | |
| CRISPR2-znf526 | Dentici et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Dentici-Novelli neurodevelopmental syndrome | 619877 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Zinc finger | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|---|---|
| UniProtKB:E7F8Q2 | InterPro | 1057 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
znf526-201
(1)
|
Ensembl | 3,174 nt | ||
| mRNA |
znf526-202
(1)
|
Ensembl | 4,627 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-165G20 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_689335 (1) | 4624 nt | ||
| Genomic | GenBank:CR848744 (1) | 246497 nt | ||
| Polypeptide | UniProtKB:E7F8Q2 (1) | 1057 aa |
- Dentici, M.L., Alesi, V., Quinodoz, M., Robens, B., Guerin, A., Lebon, S., Poduri, A., Travaglini, L., Graziola, F., Afenjar, A., Keren, B., Licursi, V., Capuano, A., Dallapiccola, B., Superti-Furga, A., Novelli, A. (2021) Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. Journal of Medical Genetics. 59(3):262-269
- 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
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