Gene
neurod2
- ID
- ZDB-GENE-010608-3
- Name
- neuronal differentiation 2
- Symbol
- neurod2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and E-box binding activity. Predicted to be involved in axon development; positive regulation of transcription by RNA polymerase II; and sensory organ development. Predicted to act upstream of or within cell differentiation; nervous system development; and regulation of DNA-templated transcription. Predicted to be active in nucleus. Is expressed in granule cell. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 72. Orthologous to human NEUROD2 (neuronal differentiation 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 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
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 72 | Alliance | Developmental and epileptic encephalopathy 72 | 618374 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR011598 | Myc-type, basic helix-loop-helix (bHLH) domain |
| Domain | IPR022575 | Neurogenic differentiation factor, domain of unknown function |
| Family | IPR016637 | Neurogenic differentiation factor NeuroD |
| Family | IPR050359 | Basic helix-loop-helix transcription factors |
| Homologous_superfamily | IPR036638 | Helix-loop-helix DNA-binding domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Basic helix-loop-helix transcription factors | Helix-loop-helix DNA-binding domain superfamily | Myc-type, basic helix-loop-helix (bHLH) domain | Neurogenic differentiation factor, domain of unknown function | Neurogenic differentiation factor NeuroD |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q9W6C8 | InterPro | 363 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
neurod2-201
(1)
|
Ensembl | 1,604 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-1M3 | ZFIN Curated Data | |
| Encodes | EST | fj49a11 | ||
| Encodes | cDNA | MGC:193619 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193621 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131082 (1) | 1568 nt | ||
| Genomic | GenBank:CR456635 (2) | 233049 nt | ||
| Polypeptide | UniProtKB:Q9W6C8 (1) | 363 aa |
- Reuter, A.S., Stern, D., Bernard, A., Goossens, C., Lavergne, A., Flasse, L., Von Berg, V., Manfroid, I., Peers, B., Voz, M.L. (2022) Identification of an evolutionarily conserved domain in Neurod1 favouring enteroendocrine versus goblet cell fate. PLoS Genetics. 18:e1010109
- Lin, S.J., Vona, B., Barbalho, P.G., Kaiyrzhanov, R., Maroofian, R., Petree, C., Severino, M., Stanley, V., Varshney, P., Bahena, P., Alzahrani, F., Alhashem, A., Pagnamenta, A.T., Aubertin, G., Estrada-Veras, J.I., Hernández, H.A.D., Mazaheri, N., Oza, A., Thies, J., Renaud, D.L., Dugad, S., McEvoy, J., Sultan, T., Pais, L.S., Tabarki, B., Villalobos-Ramirez, D., Rad, A., Genomics England Research Consortium, Galehdari, H., Ashrafzadeh, F., Sahebzamani, A., Saeidi, K., Torti, E., Elloumi, H.Z., Mora, S., Palculict, T.B., Yang, H., Wren, J.D., Ben Fowler, ., Joshi, M., Behra, M., Burgess, S.M., Nath, S.K., Hanna, M.G., Kenna, M., Merritt, J.L., Houlden, H., Karimiani, E.G., Zaki, M.S., Haaf, T., Alkuraya, F.S., Gleeson, J.G., Varshney, G.K. (2021) Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genetics in medicine : official journal of the American College of Medical Genetics. 23(10):1933-1943
- Mukaigasa, K., Sakuma, C., Yaginuma, H. (2021) The developmental hourglass model is applicable to the spinal cord based on single-cell transcriptomes and non-conserved cis-regulatory elements. Development, growth & differentiation. 63(7):372-391
- Lagadec, R., Lanoizelet, M., Sánchez-Farías, N., Hérard, F., Menuet, A., Mayeur, H., Billoud, B., Rodriguez-Moldes, I., Candal, E., Mazan, S. (2018) Neurogenetic asymmetries in the catshark developing habenulae: mechanistic and evolutionary implications. Scientific Reports. 8:4616
- Lee, J., Horzmann, K.A., Freeman, J.L. (2018) An embryonic 100μg/L lead exposure results in sex-specific expression changes in genes associated with the neurological system in female or cancer in male adult zebrafish brains. Neurotoxicology and teratology. 65:60-69
- Takeuchi, M., Yamaguchi, S., Sakakibara, M., Hayashi, T., Matsuda, K., Hara, Y., Tanegashima, C., Shimizu, T., Kuraku, S., Hibi, M. (2017) Gene expression profiling of granule cells and Purkinje cells in the zebrafish cerebellum. The Journal of comparative neurology. 525(7):1558-1585
- 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
- Shimoda, N., Hirose, K., Kaneto, R., Izawa, T., Yokoi, H., Hashimoto, N., Kikuchi, Y. (2014) No Evidence for AID/MBD4-Coupled DNA Demethylation in Zebrafish Embryos. PLoS One. 9:e114816
- Flasse, L.C., Pirson, J.L., Stern, D.G., Von Berg, V., Manfroid, I., Peers, B., and Voz, M.L. (2013) Ascl1b and Neurod1, instead of Neurog3, control pancreatic endocrine cell fate in zebrafish. BMC Biology. 11(1):78
- Powell, C., Grant, A.R., Cornblath, E., and Goldman, D. (2013) Analysis of DNA methylation reveals a partial reprogramming of the Muller glia genome during retina regeneration. Proceedings of the National Academy of Sciences of the United States of America. 110(49):19814-19819
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