Gene
gdf3
- ID
- ZDB-GENE-980526-389
- Name
- growth differentiation factor 3
- Symbol
- gdf3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable cytokine activity. Involved in regulation of epiboly involved in gastrulation with mouth forming second. Acts upstream of or within with a positive effect on nodal signaling pathway. Acts upstream of or within with a negative effect on BMP signaling pathway. Acts upstream of or within several processes, including axis specification; embryonic morphogenesis; and regulation of nodal signaling pathway involved in determination of left/right asymmetry. Part of protein-containing complex. Is expressed in several structures, including blastomere; heart primordium; mesoderm; oocyte; and tail bud. Human ortholog(s) of this gene implicated in Klippel-Feil syndrome 3; isolated microphthalmia 7; multiple types of congenital heart defects 6; and visceral heterotaxy. Orthologous to several human genes including GDF3 (growth differentiation factor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 21 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb556 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| a164 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| a165 | Allele with one deletion | Exon 1 | Unknown | CRISPR | |
| fb20a | Allele with one deletion | Exon 2 | Frameshift, Premature Stop | CRISPR | |
| pr05 | Allele with one deletion | Exon 1 | Frameshift, Premature Stop | CRISPR | |
| pr06 | Allele with one delins | Unknown | Unknown | CRISPR | |
| pr11 | Allele with one delins | Exon 1 | Frameshift, Premature Stop | CRISPR | |
| sa22982 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zy51 | Allele with one deletion | Exon 1 | Frameshift, Premature Stop | TALEN | |
| zy52 | Allele with one deletion | Exon 1 | Frameshift, Premature Stop | TALEN | |
| zy53 | Allele with one deletion | Unknown | Inframe Deletion | TALEN |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| isolated microphthalmia 7 | Alliance | Microphthalmia, isolated 7 | 613704 |
| Klippel-Feil syndrome 3 | Alliance | Klippel-Feil syndrome 3, autosomal dominant | 613702 |
| Microphthalmia, isolated, with coloboma 6 | 613703 |
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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 | 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:P35621
|
355 | |||||
|
UniProtKB:A0A8M9PNK2
|
322 |
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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 | Fosmid | ZFOS-1139C7 | ZFIN Curated Data | |
| Encodes | EST | cb556 | Thisse et al., 2001 | |
| Encodes | cDNA | MGC:103542 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191347 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_130948 (1) | 1243 nt | ||
| Genomic | GenBank:FP101972 (2) | 25835 nt | ||
| Polypeptide | UniProtKB:P35621 (1) | 355 aa |
- Kurup, A.J., Bailet, F., Fürthauer, M. (2024) Myosin1G promotes Nodal signaling to control zebrafish left-right asymmetry. Nature communications. 15:65476547
- Li, H., Xu, W., Xiang, S., Tao, L., Fu, W., Liu, J., Liu, W., Xiao, Y., Peng, L. (2022) Defining the Pluripotent Marker Genes for Identification of Teleost Fish Cell Pluripotency During Reprogramming. Frontiers in genetics. 13:819682
- Naraine, R., Iegorova, V., Abaffy, P., Franek, R., Soukup, V., Psenicka, M., Sindelka, R. (2022) Evolutionary conservation of maternal RNA localization in fishes and amphibians revealed by TOMO-Seq. Developmental Biology. 489:146-160
- Lord, N.D., Carte, A.N., Abitua, P.B., Schier, A.F. (2021) The pattern of Nodal morphogen signaling is shaped by co-receptor expression. eLIFE. 10:
- Vong, Y.H., Sivashanmugam, L., Leech, R., Zaucker, A., Jones, A., Sampath, K. (2021) The RNA-binding protein Igf2bp3 is critical for embryonic and germline development in zebrafish. PLoS Genetics. 17:e1009667
- Gao, X., Zheng, P., Yang, L., Luo, H., Zhang, C., Qiu, Y., Huang, G., Sheng, W., Ma, X., Lu, C. (2019) Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5. Clinical science (London, England : 1979). 133:1281-1295
- Guner-Ataman, B., González-Rosa, J.M., Shah, H.N., Butty, V.L., Jeffrey, S., Abrial, M., Boyer, L.A., Burns, C.G., Burns, C.E. (2018) Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. Cell Reports. 24:1342-1354.e5
- Montague, T.G., Gagnon, J.A., Schier, A.F. (2018) Conserved regulation of Nodal-mediated left-right patterning in zebrafish and mouse. Development (Cambridge, England). 145(24):
- Ramakrishnan Varadarajan, A., Mopuri, R., Streelman, J.T., McGrath, P.T. (2018) Genome-wide protein phylogenies for four African cichlid species. BMC Evolutionary Biology. 18:1
- Bisgrove, B.W., Su, Y.C., Yost, H.J. (2017) Maternal Gdf3 is an obligatory cofactor in nodal signaling for embryonic axis formation in zebrafish. eLIFE. 6
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