Gene
sox9b
- ID
- ZDB-GENE-001103-2
- Name
- SRY-box transcription factor 9b
- Symbol
- sox9b Nomenclature History
- Previous Names
-
- fb18d01
- wu:fb18d01 (1)
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including embryonic morphogenesis; heart development; and iridophore differentiation. Predicted to be active in nucleus. Is expressed in several structures, including digestive system; head; nervous system; neural crest; and pleuroperitoneal region. 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
- 128 figures from 100 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:76805 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 22 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| fh313 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40193 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sox9b_unrecovered | Allele with one point mutation | Unknown | Unknown | ENU | |
| sox9b_unspecified | Unspecified Allele | Unknown | Unknown | not specified |
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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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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:Q9DFH1 | InterPro | 407 |
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Interactions and Pathways
No data available
Plasmids
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| TgFOS(sox9b:Citrine) |
|
| 1 | (3) | |
| Tg(-1.8sox9b:EGFP) |
|
| 1 | Burns et al., 2016 | |
| Tg(-1.88sox9b:EGFP) |
|
| 1 | Burns et al., 2016 | |
| Tg(-2.4sox9b:EGFP) |
|
| 1 | Burns et al., 2016 | |
| Tg(-.9sox9b:EGFP) |
|
| 1 | Burns et al., 2016 | |
| Tg(-.56sox9b:EGFP) |
|
| 1 | Burns et al., 2016 | |
| TgBAC(sox9b:GAL4FF) |
|
| 1 | Lee et al., 2023 | |
| Tg(myl7:dnsox9b-2A-tRFP) |
| 1 | Gawdzik et al., 2018 | ||
| Tg(sox9b:Cre-ERT2) |
|
| 1 | Wei et al., 2023 | |
| Tg(sox9b:EGFP) |
|
| 1 | (6) |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | CH1073-175H21 | ZFIN Curated Data | |
| Encodes | EST | fb18d01 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:76805 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_131644 (1) | 1916 nt | ||
| Genomic | GenBank:CU855796 (2) | 35870 nt | ||
| Polypeptide | UniProtKB:Q9DFH1 (1) | 407 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:
- Gang, K., Chen, Q., Sun, J., Zhang, T., Cai, P., Ni, R., Ma, J. (2025) Khdrbs1 drives redifferentiation of bipotential progenitor cell by inhibiting p53 in zebrafish biliary-mediated liver regeneration. Development (Cambridge, England). :
- He, J., Li, S., Yang, Z., Ma, J., Qian, C., Huang, Z., Li, L., Yang, Y., Chen, J., Sun, Y., Zhao, T., Luo, L. (2025) Gallbladder-derived retinoic acid signalling drives reconstruction of the damaged intrahepatic biliary ducts. Nature cell biology. 27(1):39-47
- Jia, K., Cheng, B., Huang, L., Xu, J., Liu, F., Liao, X., Liao, K., Lu, H. (2025) Activation of prep expression by Tet2 promotes the proliferation of bipotential progenitor cells during liver regeneration. Development (Cambridge, England). :
- Lee, S., Memon, A., Chae, S.C., Shin, D., Choi, T.Y. (2024) Epcam regulates intrahepatic bile duct reconstruction in zebrafish, providing a potential model for primary cholangitis model. Biochemical and Biophysical Research Communications. 696:149512149512
- Liu, S., Xu, L., Kashima, M., Narumi, R., Takahata, Y., Nakamura, E., Shibuya, H., Tamura, M., Shida, Y., Inubushi, T., Nukada, Y., Miyazawa, M., Hata, K., Nishimura, R., Yamashiro, T., Tasaki, J., Kurosaka, H. (2024) Expression analysis of genes including Zfhx4 in mice and zebrafish reveals a temporospatial conserved molecular basis underlying craniofacial development. Developmental Dynamics : an official publication of the American Association of Anatomists. :
- Psutkova, V., Nickl, P., Brezinova, V., Machonova, O., Machon, O. (2024) Transcription factor Meis1b regulates craniofacial morphogenesis in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 254(1):40-60
- Ren, M., Chen, X., Dai, L., Tu, J., Hu, H., Sun, X., Luo, J., Li, P., Fu, Y., Zhu, Y., Sun, W., Tang, Z., Liu, M., Ren, X., Lu, Q. (2024) Knockout of dhx38 Causes Inner Ear Developmental Defects in Zebrafish. Biomedicines. 13:
- Shin, K., Rodriguez-Parks, A., Kim, C., Silaban, I.M., Xia, Y., Sun, J., Dong, C., Keles, S., Wang, J., Cao, J., Kang, J. (2024) Harnessing the regenerative potential of interleukin11 to enhance heart repair. Nature communications. 15:96669666
- Truong, B.T., Shull, L.C., Zepeda, B.J., Lencer, E., Artinger, K.B. (2024) Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects. Birth defects research. 116:e2327e2327
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