Gene
def6a
- ID
- ZDB-GENE-040426-1246
- Name
- DEF6 guanine nucleotide exchange factor a
- Symbol
- def6a Nomenclature History
- Previous Names
-
- zgc:63721 (1)
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Acts upstream of or within cell migration involved in gastrulation and convergent extension involved in gastrulation. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including female organism; fin; lateral line; post-vent region; and somite border. Human ortholog(s) of this gene implicated in immunodeficiency 87. Orthologous to human DEF6 (DEF6 guanine nucleotide exchange factor).
- 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
- 10 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la029425Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa18435 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa34348 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41144 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-def6a | N/A | (2) |
| MO2-def6a | N/A | Goudevenou et al., 2011 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| immunodeficiency 87 | Alliance | Immunodeficiency 87 and autoimmunity | 619573 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | EF-hand domain pair | PH-like domain superfamily | Pleckstrin homology domain |
|---|---|---|---|---|---|
| UniProtKB:Q7SYB5 | InterPro | 612 | |||
| UniProtKB:A0A8M6Z7K3 | InterPro | 631 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-6N6 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:63721 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201040 (1) | 2211 nt | ||
| Genomic | GenBank:BX004884 (1) | 225442 nt | ||
| Polypeptide | UniProtKB:A0A8M6Z7K3 (1) | 631 aa |
- Newman, M., Hin, N., Pederson, S., Lardelli, M. (2019) Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production. Molecular brain. 12:43
- Safian, D., Bogerd, J., Schulz, R.W. (2019) Regulation of spermatogonial development by Fsh: the complementary roles of locally produced Igf and Wnt signaling molecules in adult zebrafish testis. General and comparative endocrinology. 284:113244
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- 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
- Haug, M.F., Gesemann, M., Lazovic, V., Neuhauss, S.C. (2015) Eumetazoan Cryptochrome Phylogeny and Evolution. Genome biology and evolution. 7(2):601-19
- Xu, X., Shuen, W.H., Chen, C., Goudevenou, K., Jones, P., and Sablitzky, F. (2014) Swap70b is required for convergent and extension cell movement during zebrafish gastrulation linking Wnt11 signalling and RhoA effector function. Developmental Biology. 386(1):191-203
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Goudevenou, K., Martin, P., Yeh, Y.J., Jones, P., and Sablitzky, F. (2011) Def6 Is Required for Convergent Extension Movements during Zebrafish Gastrulation Downstream of Wnt5b Signaling. PLoS One. 6(10):e26548
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Song, H.D., Sun, X.J., Deng, M., Zhang, G.W., Zhou, Y., Wu, X.Y., Sheng, Y., Chen, Y., Ruan, Z., Jiang, C.L., Fan, H.Y., Zon, L.I., Kanki, J.P., Liu, T.X., Look, A.T., and Chen, Z. (2004) Hematopoietic gene expression profile in zebrafish kidney marrow. Proceedings of the National Academy of Sciences of the United States of America. 101(46):16240-16245
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