Gene
sox18
- ID
- ZDB-GENE-080725-1
- Name
- SRY-box transcription factor 18
- Symbol
- sox18 Nomenclature History
- Previous Names
-
- si:ch211-235f6.2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within artery development; lymphangiogenesis; and vasculogenesis. Predicted to be active in nucleus. Is expressed in several structures, including angioblastic mesenchymal cell; cardiovascular system; immature eye; intermediate cell mass of mesoderm; and mesoderm. Human ortholog(s) of this gene implicated in hypotrichosis-lymphedema-telangiectasia syndrome and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. Orthologous to human SOX18 (SRY-box transcription factor 18).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-sox18 | N/A | (8) |
MO2-sox18 | N/A | (2) |
MO3-sox18 | N/A | Pendeville et al., 2008 |
MO4-sox18 | N/A | Pendeville et al., 2008 |
MO5-sox18 | N/A | (8) |
MO6-sox18 | N/A | Cermenati et al., 2008 |
MO7-sox18 | N/A | (3) |
TALEN1-sox18 | (5) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hypotrichosis-lymphedema-telangiectasia syndrome | Alliance | Hypotrichosis-lymphedema-telangiectasia syndrome | 607823 |
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | Alliance | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 137940 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | High mobility group box domain | High mobility group box domain superfamily | Sox 7/17/18, central domain | Sox, C-terminal | SRY-related HMG-box transcription factor-like |
---|---|---|---|---|---|---|---|
UniProtKB:E7F9I2 | InterPro | 431 |
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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 | CH211-235F6 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_017353772 (1) | |||
Genomic | GenBank:CR457456 (1) | 146468 nt | ||
Polypeptide | UniProtKB:E7F9I2 (1) | 431 aa |
- Moleri, S., Mercurio, S., Pezzotta, A., D'Angelo, D., Brix, A., Plebani, A., Lini, G., Di Fuorti, M., Beltrame, M. (2023) Lymphatic Defects in Zebrafish sox18 Mutants Are Exacerbated by Perturbed VEGFC Signaling, While Masked by Elevated sox7 Expression. Cells. 12(18):
- Arnold, H., Panara, V., Hußmann, M., Filipek-Gorniok, B., Skoczylas, R., Ranefall, P., Gloger, M., Allalou, A., Hogan, B.M., Schulte-Merker, S., Koltowska, K. (2022) mafba and mafbb differentially regulate lymphatic endothelial cell migration in topographically distinct manners. Cell Reports. 39:110982
- Tsaryk, R., Yucel, N., Leonard, E.V., Diaz, N., Bondareva, O., Odenthal-Schnittler, M., Arany, Z., Vaquerizas, J.M., Schnittler, H., Siekmann, A.F. (2022) Shear stress switches the association of endothelial enhancers from ETV/ETS to KLF transcription factor binding sites. Scientific Reports. 12:4795
- Hoffmann, S., Roeth, R., Diebold, S., Gogel, J., Hassel, D., Just, S., Rappold, G.A. (2021) Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes. Frontiers in genetics. 12:688808
- Zafar, I., Iftikhar, R., Ahmad, S.U., Rather, M.A. (2021) Genome wide identification, phylogeny, and synteny analysis of sox gene family in common carp (Cyprinus carpio). Biotechnology reports (Amsterdam, Netherlands). 30:e00607
- Huang, X., Wu, C., Gong, K., Chen, Q., Gu, Q., Qin, H., Zhao, C., Yu, T., Yang, L., Fu, W., Wang, Y., Qin, Q., Liu, S. (2020) Sox Gene Family Revealed Genetic Variations in Autotetraploid Carassius auratus. Frontiers in genetics. 11:804
- Iwasaki, R., Tsuge, K., Kishimoto, K., Hayashi, Y., Iwaana, T., Hohjoh, H., Inazumi, T., Kawahara, A., Tsuchiya, S., Sugimoto, Y. (2019) Essential role of prostaglandin E2 and the EP3 receptor in lymphatic vessel development during zebrafish embryogenesis. Scientific Reports. 9:7650
- Gauvrit, S., Villasenor, A., Strilic, B., Kitchen, P., Collins, M.M., Marín-Juez, R., Guenther, S., Maischein, H.M., Fukuda, N., Canham, M.A., Brickman, J.M., Bogue, C.W., Jayaraman, P.S., Stainier, D.Y.R. (2018) HHEX is a transcriptional regulator of the VEGFC/FLT4/PROX1 signaling axis during vascular development. Nature communications. 9:2704
- Moore, C., Richens, J.L., Hough, Y., Ucanok, D., Malla, S., Sang, F., Chen, Y., Elworthy, S., Wilkinson, R.N., Gering, M. (2018) Gfi1aa and Gfi1b set the pace for primitive erythroblast differentiation from hemangioblasts in the zebrafish embryo. Blood advances. 2:2589-2606
- Moustaqil, M., Fontaine, F., Overman, J., McCann, A., Bailey, T.L., Rudolffi Soto, P., Bhumkar, A., Giles, N., Hunter, D.J.B., Gambin, Y., Francois, M., Sierecki, E. (2018) Homodimerization regulates an endothelial specific signature of the SOX18 transcription factor. Nucleic acids research. 46(21):11381-11395
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