Gene
egr2a
- ID
- ZDB-GENE-030723-6
- Name
- early growth response 2a
- Symbol
- egr2a Nomenclature History
- Previous Names
-
- frb35 (1)
- krox20
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within rhythmic process. Predicted to be located in cytoplasm and nucleus. Is expressed in hindbrain; hindbrain neural keel; and telencephalon. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 1D; Charcot-Marie-Tooth disease type 3; Charcot-Marie-Tooth disease type 4E; and motor peripheral neuropathy. Orthologous to human EGR2 (early growth response 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa32172 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-egr2a | (2) | |
| CRISPR2-egr2a | (2) | |
| CRISPR3-egr2a | (2) | |
| CRISPR4-egr2a | (2) | |
| CRISPR5-egr2a | (2) | |
| CRISPR6-egr2a | (2) | |
| CRISPR7-egr2a | (2) | |
| CRISPR8-egr2a | (2) | |
| CRISPR9-egr2a | (2) | |
| MO1-egr2a | N/A | Addison et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Charcot-Marie-Tooth disease type 1D | Alliance | Charcot-Marie-Tooth disease, type 1D | 607678 |
| Charcot-Marie-Tooth disease type 3 | Alliance | Dejerine-Sottas disease | 145900 |
| Charcot-Marie-Tooth disease type 4E | Alliance | Hypomyelinating neuropathy, congenital, 1 | 605253 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Early growth response, N-terminal | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|---|---|
| UniProtKB:Q8QFX2 | InterPro | 248 | |||
| UniProtKB:A0A8M9PE40 | InterPro | 391 | |||
| UniProtKB:E7F266 | InterPro | 393 | |||
| UniProtKB:A0AB13A3G9 | InterPro | 391 |
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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-84K15 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195306 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195311 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_183341 (1) | 1877 nt | ||
| Genomic | GenBank:BX927349 (1) | 159649 nt | ||
| Polypeptide | UniProtKB:E7F266 (1) | 393 aa |
- Cark, O., Katkat, E., Aydogdu, I., Iscan, E., Oktay, Y., Ozhan, G. (2024) tubg1 Somatic Mutants Show Tubulinopathy-Associated Neurodevelopmental Phenotypes in a Zebrafish Model. Molecular neurobiology. :
- Dai, X., Pradhan, A., Liu, J., Liu, R., Zhai, G., Zhou, L., Dai, J., Shao, F., Yuan, Z., Wang, Z., Yin, Z. (2023) Zebrafish gonad mutant models reveal neuroendocrine mechanisms of brain sexual dimorphism and male mating behaviors of different brain regions. Biology of sex differences. 14:5353
- Ulhaq, Z.S., Ogino, Y., Tse, W.K.F. (2023) FGF8 rescues motor deficits in zebrafish model of limb-girdle muscular dystrophy R18. Biochemical and Biophysical Research Communications. 652:768376-83
- Whyte-Fagundes, P., Taskina, D., Safarian, N., Zoidl, C., Carlen, P.L., Donaldson, L.W., Zoidl, G.R. (2022) Panx1 channels promote both anti- and pro-seizure-like activities in the zebrafish via p2rx7 receptors and ATP signaling. Communications biology. 5:472
- Lu, S., Lyu, Z., Wang, Z., Kou, Y., Liu, C., Li, S., Hu, M., Zhu, H., Wang, W., Zhang, C., Kuan, Y.S., Liu, Y.W., Chen, J., Tian, J. (2021) Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish. Theranostics. 11:2788-2805
- Shimizu, T., Fujita, N., Tsuji-Tamura, K., Kitagawa, Y., Fujisawa, T., Tamura, M., Sato, M. (2021) Osteocytes as main responders to low-intensity pulsed ultrasound treatment during fracture healing. Scientific Reports. 11:10298
- Jung, I.H., Jung, D.E., Chung, Y.Y., Kim, K.S., Park, S.W. (2019) Iroquois Homeobox 1 Acts as a True Tumor Suppressor in Multiple Organs by Regulating Cell Cycle Progression. Neoplasia (New York, N.Y.). 21:1003-1014
- Mu, X., Liu, J., Yuan, L., Yang, K., Huang, Y., Wang, C., Yang, W., Shen, G., Li, Y. (2019) The mechanisms underlying the developmental effects of bisphenol F on zebrafish. The Science of the total environment. 687:877-884
- Pei, D.S., Jia, P.P., Luo, J.J., Liu, W., Strauss, P.R. (2019) AP endonuclease 1 (Apex1) influences brain development linking oxidative stress and DNA repair. Cell Death & Disease. 10:348
- Voltes, A., Hevia, C.F., Engel, C., Dingare, C., Calzolari, S., Terriente, J., Norden, C., Lecaudey, V., Pujades, C. (2019) Yap/Taz-TEAD activity links mechanical cues to progenitor cell behavior during zebrafish hindbrain segmentation. Development (Cambridge, England). 146(14):
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