Gene
gdf6a
- ID
- ZDB-GENE-980526-373
- Name
- growth differentiation factor 6a
- Symbol
- gdf6a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable cytokine activity. Involved in retinal cell apoptotic process. Acts upstream of or within several processes, including blood vessel development; eye development; and regulation of signal transduction. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including blood vessel; digestive system; fin; immature eye; and nervous system. Used to study microphthalmia. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4. Orthologous to human GDF6 (growth differentiation factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 37 figures from 26 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb278 (30 images)
Wild Type Expression Summary
- All Phenotype Data
- 72 figures from 25 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
m233 | Allele with one point mutation | Unknown | Missense | ENU | |
m306 | unknown | Unknown | Unknown | ENU | |
m390 | unknown | Unknown | Unknown | ENU | |
s327 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa42788 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
u768 | Allele with one point mutation | Unknown | Missense | ENU | |
u900 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-gdf6a | (2) | |
CRISPR2-gdf6a | Xue et al., 2023 | |
MO1-gdf6a | N/A | (14) |
MO2-gdf6a | N/A | (2) |
MO3-gdf6a | N/A | Hall et al., 2002 |
MO4-gdf6a | N/A | Hall et al., 2002 |
MO5-gdf6a | N/A | (7) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
isolated microphthalmia 4 | Alliance | Microphthalmia, isolated 4 | 613094 |
Klippel-Feil syndrome 1 | Alliance | Klippel-Feil syndrome 1, autosomal dominant | 118100 |
Leber congenital amaurosis 17 | Alliance | Leber congenital amaurosis 17 | 615360 |
multiple synostoses syndrome 4 | Alliance | Multiple synostoses syndrome 4 | 617898 |
Microphthalmia with coloboma 6, digenic | 613703 |
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Human Disease | Fish | Conditions | Citations |
---|---|---|---|
microphthalmia | gdf6as327/s327 | standard conditions | French et al., 2013 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR017948 | Transforming growth factor beta, conserved site |
Domain | IPR001111 | TGF-beta, propeptide |
Domain | IPR001839 | Transforming growth factor-beta, C-terminal |
Family | IPR015615 | Transforming growth factor-beta-related |
Homologous_superfamily | IPR029034 | Cystine-knot cytokine |
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Domain Details Per Protein
Protein | Additional Resources | Length | Cystine-knot cytokine | TGF-beta, propeptide | Transforming growth factor beta, conserved site | Transforming growth factor-beta, C-terminal | Transforming growth factor-beta-related |
---|---|---|---|---|---|---|---|
UniProtKB:P85857 | InterPro | 404 |
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Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(-3.0gdf6a:GFP) |
|
| 3 | (4) | |
Tg(gdf6a-ECR1:EGFP) |
|
| 3 | (2) | |
Tg(gdf6a-ECR2:EGFP) |
|
| 3 | (2) | |
Tg(gdf6a-ECR3:EGFP) |
|
| 3 | (2) | |
Tg(gdf6a-ECR4:EGFP) |
|
| 3 | (2) | |
Tg(gdf6a-ECR5:EGFP) |
|
| 5 | (4) | |
Tg(mitfa:gdf6a,myl7:EGFP) |
|
| 1 | Gramann et al., 2019 |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-69O18 | ZFIN Curated Data | |
Contained in | BAC | DKEY-99N20 | ZFIN Curated Data | |
Contains | STS | zfish37251-1545g02.p1c | ZFIN Curated Data | |
Encodes | EST | cb278 | Thisse et al., 2001 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001159994 (1) | 2630 nt | ||
Genomic | GenBank:CR391914 (2) | 170876 nt | ||
Polypeptide | UniProtKB:P85857 (2) | 404 aa |
- Neil, G.J., Kluttig, K.H., Allison, W.T. (2024) Determining Photoreceptor Cell Identity: Rod Versus Cone Fate Governed by tbx2b Opposing nrl. Investigative ophthalmology & visual science. 65:3939
- Xue, N., Liu, X., Zhang, D., Wu, Y., Zhong, Y., Wang, J., Fan, W., Jiang, H., Zhu, B., Ge, X., Gonzalez, R.V.L., Chen, L., Zhang, S., She, P., Zhong, Z., Sun, J., Chen, X., Wang, L., Gu, Z., Zhu, P., Liu, M., Li, D., Zhong, T.P., Zhang, X. (2023) Improving adenine and dual base editors through introduction of TadA-8e and Rad51DBD. Nature communications. 14:12241224
- Yuan, C., Xie, H., Chen, X., Yuan, S. (2023) Roles of miR-196a and miR-196b in Zebrafish Motor Function. Biomolecules. 13(3):
- Liang, F., Zhang, Y., Li, L., Yang, Y., Fei, J.F., Liu, Y., Qin, W. (2022) SpG and SpRY variants expand the CRISPR toolbox for genome editing in zebrafish. Nature communications. 13:3421
- Wilcock, D.J., Badrock, A.P., Wong, C.W., Owen, R., Guerin, M., Southam, A.D., Johnston, H., Telfer, B.A., Fullwood, P., Watson, J., Ferguson, H., Ferguson, J., Lloyd, G.R., Jankevics, A., Dunn, W.B., Wellbrock, C., Lorigan, P., Ceol, C., Francavilla, C., Smith, M.P., Hurlstone, A.F.L. (2022) Oxidative stress from DGAT1 oncoprotein inhibition in melanoma suppresses tumor growth when ROS defenses are also breached. Cell Reports. 39:110995
- McCluskey, B.M., Uji, S., Mancusi, J.L., Postlethwait, J.H., Parichy, D.M. (2021) A complex genetic architecture in zebrafish relatives Danio quagga and D. kyathit underlies development of stripes and spots. PLoS Genetics. 17:e1009364
- Coomer, C.E., Wilson, S.G., Titialii-Torres, K.F., Bills, J.D., Krueger, L.A., Petersen, R.A., Turnbaugh, E.M., Janesch, E.L., Morris, A.C. (2020) Her9/Hes4 is required for retinal photoreceptor development, maintenance, and survival. Scientific Reports. 10:11316
- He, M., Zhang, R., Jiao, S., Zhang, F., Ye, D., Wang, H., Sun, Y. (2020) Nanog safeguards early embryogenesis against global activation of maternal β-catenin activity by interfering with TCF factors. PLoS Biology. 18:e3000561
- Nadolski, N.J., Balay, S.D., Wong, C.X.L., Waskiewicz, A.J., Hocking, J.C. (2020) Abnormal Cone and Rod Photoreceptor Morphogenesis in gdf6a Mutant Zebrafish. Investigative ophthalmology & visual science. 61:9
- Zhao, Y., Shang, D., Ying, R., Cheng, H., Zhou, R. (2020) An optimized base editor with efficient C-to-T base editing in zebrafish. BMC Biology. 18:190
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