Gene
sox3
- ID
- ZDB-GENE-980526-333
- Name
- SRY-box transcription factor 3
- Symbol
- sox3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription activator activity, RNA polymerase II-specific. Contributes to DNA-binding transcription factor activity. Involved in regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including nervous system development; otic placode development; and otic placode formation. Predicted to be active in nucleus. Is expressed in several structures, including ectoderm; nervous system; neural keel; neural tube; and presumptive structure. Human ortholog(s) of this gene implicated in X-linked panhypopituitarism. Orthologous to human SOX3 (SRY-box transcription factor 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 112 figures from 57 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb493 (32 images)
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| fh276 | Allele with one point mutation | Unknown | Unknown | ENU | |
| fh277 | Allele with one point mutation | Unknown | Unknown | ENU | |
| ihb425 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| kut1Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| kut2Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| kut3Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| kut4Tg | Transgenic insertion | Unknown | Unknown | DNA and CRISPR | |
| sox3_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU | |
| whu101 | Allele with one deletion | Unknown | Frameshift, Premature Stop | CRISPR | |
| whu102 | Allele with one deletion | Unknown | Frameshift, Premature Stop | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked panhypopituitarism | Alliance | Panhypopituitarism, X-linked | 312000 |
| Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency | 300123 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | High mobility group box domain | High mobility group box domain superfamily | SRY-related HMG-box transcription factor-like | Transcription factor SOX |
|---|---|---|---|---|---|
|
UniProtKB:Q6EJB7
|
300 | ||||
|
UniProtKB:A9JSZ3
|
300 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg1(sox3-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg2(sox3-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg3(sox3-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg4(sox3-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg5(sox3-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg6(sox3-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg7(sox3-gata2a:EGFP) |
|
| 1 | (2) | |
| Tg(hsp70l:sox3) |
|
| 1 | (2) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-143L19 | ZFIN Curated Data | |
| Contained in | BAC | CH211-285J6 | ZFIN Curated Data | |
| Encodes | EST | cb493 | ZFIN Curated Data | |
| Encodes | EST | fc66h05 | Rauch et al., 2003 | |
| Encodes | EST | fd02a08 | ZFIN Curated Data | |
| Encodes | EST | ibd2036 | Kudoh et al., 2001 | |
| Encodes | cDNA | MGC:110279 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174245 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001001811 (1) | 1781 nt | ||
| Genomic | GenBank:BX088596 (1) | 67105 nt | ||
| Polypeptide | UniProtKB:A9JSZ3 (1) | 300 aa |
- Xu, W., Liu, X., Li, J., Sun, C., Chen, L., Zhou, J., Li, K., Li, Q., Meng, A., Sun, Q. (2024) ULI-ssDRIP-seq revealed R-loop dynamics during vertebrate early embryogenesis. Cell insight. 3:100179100179
- Yang, X., Zhou, W., Zhou, J., Li, A., Zhang, C., Fang, Z., Wang, C., Liu, S., Hao, A., Zhang, M. (2024) Pcgf5: An important regulatory factor in early embryonic neural induction. Heliyon. 10:e27634e27634
- He, T., Sun, H., Xu, B., Qu, H., Cai, X., Zhou, H., Liu, Y., Lin, Z., Zhang, X. (2023) Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence. Frontiers in neurology. 14:12282181228218
- Shih, H.Y., Chang, C.W., Chen, Y.C., Cheng, Y.C. (2023) Identification of the Time Period during Which BMP Signaling Regulates Proliferation of Neural Progenitor Cells in Zebrafish. International Journal of Molecular Sciences. 24(2):
- Silva, N., Campinho, M.A. (2023) In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity. Frontiers in endocrinology. 14:11576851157685
- Yuikawa, T., Sato, T., Ikeda, M., Tsuruoka, M., Yasuda, K., Sato, Y., Nasu, K., Yamasu, K. (2023) Elongation of the developing spinal cord is driven by Oct4-type transcription factor-mediated regulation of retinoic acid signaling in zebrafish embryos. Developmental Dynamics : an official publication of the American Association of Anatomists. 253(4):404-422
- Gao, M., Veil, M., Rosenblatt, M., Riesle, A.J., Gebhard, A., Hass, H., Buryanova, L., Yampolsky, L.Y., Grüning, B., Ulianov, S.V., Timmer, J., Onichtchouk, D. (2022) Pluripotency factors determine gene expression repertoire at zygotic genome activation. Nature communications. 13:788
- Liu, Y., Lin, Z., Peng, Y., Jiang, Y., Zhang, X., Zhu, H., Zhang, L., Chen, J., Shu, X., Luo, M., Xie, D., Chen, Y., Liao, H., Liu, M., Zhang, X., Liu, S., Wang, H., Zhou, B., Sun, H. (2022) Embryonic organizer formation disorder leads to multiorgan dysplasia in Down syndrome. Cell Death & Disease. 13:10541054
- Lo, Y.H., Huang, Y.S., Chang, Y.C., Hung, P.Y., Wang, W.D., Liu, W., Urade, R., Wen, Z.H., Wu, C.Y. (2022) GTP-Binding Protein 1-Like (GTPBP1l) Regulates Vascular Patterning during Zebrafish Development. Biomedicines. 10(12):
- Michel, L., Palma, K., Cerda, M., Lagadec, R., Mayeur, H., Fuentès, M., Besseau, L., Martin, P., Magnanou, E., Blader, P., Concha, M.L., Mazan, S. (2022) Diversification of habenular organization and asymmetries in teleosts: Insights from the Atlantic salmon and European eel. Frontiers in cell and developmental biology. 10:1015074
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