Gene
smad9
- ID
- ZDB-GENE-031014-1
- Name
- SMAD family member 9
- Symbol
- smad9 Nomenclature History
- Previous Names
-
- madh9
- smad8
- zgc:103407 (1)
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; I-SMAD binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including myeloid cell development; negative regulation of DNA-templated transcription; and regulation of BMP signaling pathway. Predicted to be located in cytoplasm and nucleus. Predicted to be part of heteromeric SMAD protein complex. Is expressed in several structures, including cardiovascular system; gut; nervous system; optic vesicle; and periderm. Used to study arteriovenous malformations of the brain. Human ortholog(s) of this gene implicated in primary pulmonary hypertension. Orthologous to human SMAD9 (SMAD family member 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103407 (19 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la011859Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| um112 | Allele with one deletion | Unknown | Frameshift | zinc finger nuclease | |
| um113 | Allele with one deletion | Unknown | Frameshift | zinc finger nuclease |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary pulmonary hypertension | Alliance | Pulmonary hypertension, primary, 2 | 615342 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| arteriovenous malformations of the brain | zf531Tg + MO1-smad9 | standard conditions | Walcott et al., 2018 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Dwarfin | MAD homology 1, Dwarfin-type | MAD homology, MH1 | SMAD domain, Dwarfin-type | SMAD/FHA domain superfamily | SMAD-like domain superfamily | SMAD MH1 domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QXZ9 | InterPro | 466 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-170H2 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:103407 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:192433 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001328499 (1) | 2297 nt | ||
| Genomic | GenBank:CT573139 (2) | 159802 nt | ||
| Polypeptide | UniProtKB:F1QXZ9 (1) | 466 aa |
- McDonald, G.L.K., Wang, M., Hammond, C.L., Bergen, D.J.M. (2021) Pharmacological Manipulation of Early Zebrafish Skeletal Development Shows an Important Role for Smad9 in Control of Skeletal Progenitor Populations. Biomolecules. 11(2):
- Min, K.D., Asakura, M., Shirai, M., Yamazaki, S., Ito, S., Fu, H.Y., Asanuma, H., Asano, Y., Minamino, T., Takashima, S., Kitakaze, M. (2021) ASB2 is a novel E3 ligase of SMAD9 required for cardiogenesis. Scientific Reports. 11:23056
- Zhang, G., Lübke, L., Chen, F., Beil, T., Takamiya, M., Diotel, N., Strähle, U., Rastegar, S. (2021) Neuron-Radial Glial Cell Communication via BMP/Id1 Signaling Is Key to Long-Term Maintenance of the Regenerative Capacity of the Adult Zebrafish Telencephalon. Cells. 10(10):
- Cang, Z., Nie, Q. (2020) Inferring spatial and signaling relationships between cells from single cell transcriptomic data. Nature communications. 11:2084
- So, J., Ningappa, M., Glessner, J., Min, J., Ashokkumar, C., Ranganathan, S., Higgs, B.W., Li, D., Sun, Q., Schmitt, L., Biery, A.C., Dobrowolski, S., Trautz, C., Fuhrman, L., Schwartz, M.C., Klena, N.T., Fusco, J., Prasadan, K., Adenuga, M., Mohamed, N., Yan, Q., Chen, W., Horne, W., Dhawan, A., Sharif, K., Kelly, D., Squires, R.H., Gittes, G.K., Hakonarson, H., Morell, V., Lo, C., Subramaniam, S., Shin, D., Sindhi, R. (2020) Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality. Frontiers in Physiology. 11:538701
- Ghersi, J.J., Mahony, C.B., Bertrand, J.Y. (2019) bif1, a new BMP signaling inhibitor, regulates embryonic hematopoiesis in the zebrafish. Development (Cambridge, England). 146(6):
- Walcott, B.P., Winkler, E.A., Zhou, S., Birk, H., Guo, D., Koch, M.J., Stapleton, C.J., Spiegelman, D., Dionne-Laporte, A., Dion, P.A., Kahle, K.T., Rouleau, G.A., Lawton, M.T. (2018) Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing.. Human genome variation. 5:18001
- Dai, Y., Prithiviraj, N., Gan, J., Zhang, X.A., Yan, J. (2016) Tissue Extract Fractions from Starfish Undergoing Regeneration Promote Wound Healing and Lower Jaw Blastema Regeneration of Zebrafish. Scientific Reports. 6:38693
- Flanagan-Steet, H., Aarnio, M., Kwan, B., Guihard, P., Petrey, A., Haskins, M., Blanchard, F., Steet, R. (2016) Cathepsin-Mediated Alterations In TGFß-Related Signaling Underlie Disrupted Cartilage and Bone Maturation Associated With Impaired Lysosomal Targeting. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 31(3):535-48
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
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