Gene
sox9a
- ID
- ZDB-GENE-001103-1
- Name
- SRY-box transcription factor 9a
- Symbol
- sox9a Nomenclature History
- Previous Names
-
- jef (1)
- jellyfish
- wu:fj17b12
- zgc:111921
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Enables chromatin binding activity. Acts upstream of or within cartilage morphogenesis; embryonic morphogenesis; and glial cell differentiation. Located in cytoplasm. Is expressed in several structures, including brain; ectoderm; head; reproductive system; and skeletal system. Used to study campomelic dysplasia. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; campomelic dysplasia; lung cancer; and lung carcinoma. Orthologous to human SOX9 (SRY-box transcription factor 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 217 figures from 165 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 19 figures from 12 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi1134Tg | Transgenic insertion | Acceptor Splice Site of Exon 2 | Exon Loss of Exon 2 | DNA | |
| sox9a_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| tw37 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zc81Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-sox9a | Okada et al., 2022 | |
| CRISPR2-sox9a | Yang et al., 2025 | |
| MO1-sox9a | N/A | (3) |
| MO2-sox9a | N/A | (6) |
| MO3-sox9a | N/A | (4) |
| MO4-sox9a | N/A | Dutton et al., 2009 |
| MO5-sox9a | N/A | Dutton et al., 2009 |
| MO6-sox9a | N/A | Dale et al., 2011 |
| MO7-sox9a | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| 46,XX sex reversal 2 | Alliance | 46XX sex reversal 2 | 278850 |
| 46,XY sex reversal 10 | Alliance | 46XY sex reversal 10 | 616425 |
| campomelic dysplasia | Alliance | Acampomelic campomelic dysplasia | 114290 |
| campomelic dysplasia | Alliance | Campomelic dysplasia | 114290 |
| campomelic dysplasia | Alliance | Campomelic dysplasia with autosomal sex reversal | 114290 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| campomelic dysplasia | sox9ahi1134Tg/hi1134Tg | standard conditions | (2) |
| campomelic dysplasia | sox9atw37/tw37 | standard conditions | Yan et al., 2002 |
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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 developmental protein N-terminal | SOX Transcription Factors |
|---|---|---|---|---|---|---|
| UniProtKB:Q9DFH2 | InterPro | 462 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(-2.4shha-E1:GFP) |
|
| 1 | (2) | |
| Tg(sox9a:Cre-ERT2,cryaa:EGFP) |
|
| 2 | Komiya et al., 2024 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-314D5 | ZFIN Curated Data | |
| Encodes | EST | fj17b12 | ||
| Encodes | cDNA | MGC:111921 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131643 (1) | 1790 nt | ||
| Genomic | GenBank:CU074420 (2) | 97020 nt | ||
| Polypeptide | UniProtKB:Q9DFH2 (1) | 462 aa |
- Debaenst, S., Jarayseh, T., De Saffel, H., Bek, J.W., Boone, M., Josipovic, I., Kibleur, P., Kwon, R.Y., Coucke, P.J., Willaert, A. (2025) Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility. eLIFE. 13:
- He, X., Wang, Z., Cheng, L., Wang, H., Sun, Y. (2025) An antagonistic role of clock genes and lima1 in kidney regeneration. Communications biology. 8:2929
- Jeon, H., Jin, S., Kim, J., Joo, S., Choe, C.P. (2025) Pax1a-EphrinB2a pathway in the first pharyngeal pouch controls hyomandibular plate formation by promoting chondrocyte formation in zebrafish. Frontiers in cell and developmental biology. 13:14829061482906
- Shi, C., Zhang, Y., Lu, Y., Lou, Q., Shang, G., Peng, X., Dai, X., Jin, X., He, J., Zhai, G., Yin, Z. (2025) Insights into the role of Fsh signaling in ovarian differentiation of chorionic gonadotropin α ( cgα)-deficient zebrafish. Zoological research. 46:695708695-708
- Xia, X., Song, W., Zhang, F., Fan, Y., Zhang, B., Chen, X. (2025) ctdsp2 Knockout Induces Zebrafish Craniofacial Dysplasia via p53 Signaling Activation. International Journal of Molecular Sciences. 26:
- Yang, K., Cai, L., Zhao, Y., Cheng, H., Zhou, R. (2025) Optimization of genome editing by CRISPR ribonucleoprotein for high efficiency of germline transmission of Sox9 in zebrafish. New biotechnology. :
- Bailon-Zambrano, R., Keating, M.K., Sales, E.C., Nichols, A.R., Gustafson, G.E., Hopkins, C.A., Kocha, K.M., Huang, P., Barske, L., Nichols, J.T. (2024) The sclerotome is the source of the dorsal and anal fin skeleton and its expansion is required for median fin development. Development (Cambridge, England). 151(24):
- Breuer, M., Rummler, M., Singh, J., Maher, S., Zaouter, C., Jamadagni, P., Pilon, N., Willie, B.M., Patten, S.A. (2024) CHD7 regulates craniofacial cartilage development via controlling HTR2B expression. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 39(4):498-512
- Harboe, M., Kjaer-Sorensen, K., Füchtbauer, E.M., Fenton, R.A., Thomsen, J.S., Brüel, A., Oxvig, C. (2024) The metalloproteinase PAPP-A is required for IGF-dependent chondrocyte differentiation and organization. Scientific Reports. 14:2016120161
- Jędrychowska, J., Vardanyan, V., Wieczor, M., Marciniak, A., Czub, J., Amini, R., Jain, R., Shen, H., Choi, H., Kuznicki, J., Korzh, V. (2024) Mutant analysis of Kcng4b reveals how the different functional states of the voltage-gated potassium channel regulate ear development. Developmental Biology. 513:50-62
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