Gene
smad6b
- ID
- ZDB-GENE-050419-198
- Name
- SMAD family member 6b
- Symbol
- smad6b Nomenclature History
- Previous Names
-
- si:dkey-288j18.1
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable I-SMAD binding activity and transcription regulator inhibitor activity. Acts upstream of or within camera-type eye development. 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; nervous system; notochord; optic vesicle; and periderm. Human ortholog(s) of this gene implicated in aortic valve disease 2; craniosynostosis 7; and radioulnar synostosis. Orthologous to human SMAD6 (SMAD family member 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu893 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Buono et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa10756 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-smad6b | Mouillesseaux et al., 2016 | |
| CRISPR2-smad6b | Mouillesseaux et al., 2016 | |
| CRISPR3-smad6b | Buono et al., 2021 | |
| CRISPR4-smad6b | Buono et al., 2021 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| aortic valve disease 2 | Alliance | Aortic valve disease 2 | 614823 |
| craniosynostosis 7 | Alliance | {Craniosynostosis 7, susceptibility to} | 617439 |
| radioulnar synostosis | Alliance | {Radioulnar synostosis, nonsyndromic} | 179300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001132 | SMAD domain, Dwarfin-type |
| Domain | IPR003619 | MAD homology 1, Dwarfin-type |
| Domain | IPR013019 | MAD homology, MH1 |
| Family | IPR013790 | Dwarfin |
| Homologous_superfamily | IPR008984 | SMAD/FHA domain superfamily |
| Homologous_superfamily | IPR017855 | SMAD-like domain superfamily |
| Homologous_superfamily | IPR036578 | SMAD MH1 domain superfamily |
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:Q1L8Y3 | InterPro | 486 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smad6b-201
(1)
|
Ensembl | 2,113 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-288J18 | ZFIN Curated Data | |
| Encodes | EST | eu893 | Thisse et al., 2005 | |
| Encodes | cDNA | MGC:162749 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045051 (1) | 2572 nt | ||
| Genomic | GenBank:CR533570 (2) | 167352 nt | ||
| Polypeptide | UniProtKB:Q1L8Y3 (1) | 486 aa |
- Baldera, D., Baxendale, S., van Hateren, N.J., Marzo, M., Glendenning, E., Geng, F.S., Yokoya, K., Knight, R.D., Whitfield, T.T. (2023) Enhancer trap lines with GFP driven by smad6b and frizzled1 regulatory sequences for the study of epithelial morphogenesis in the developing zebrafish inner ear. Journal of anatomy. 243(1):78-89
- Owen, N., Toms, M., Tian, Y., Toualbi, L., Richardson, R., Young, R., Tracey-White, D., Dhami, P., Beck, S., Moosajee, M. (2023) Loss of the crumbs cell polarity complex disrupts epigenetic transcriptional control and cell cycle progression in the developing retina. The Journal of pathology. 259(4):441-454
- Buono, L., Corbacho, J., Naranjo, S., Almuedo-Castillo, M., Moreno-Marmol, T., de la Cerda, B., Sanbria-Reinoso, E., Polvillo, R., Díaz-Corrales, F.J., Bogdanovic, O., Bovolenta, P., Martínez-Morales, J.R. (2021) Analysis of gene network bifurcation during optic cup morphogenesis in zebrafish. Nature communications. 12:3866
- 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):
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- 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
- Mouillesseaux, K.P., Wiley, D.S., Saunders, L.M., Wylie, L.A., Kushner, E.J., Chong, D.C., Citrin, K.M., Barber, A.T., Park, Y., Kim, J.D., Samsa, L.A., Kim, J., Liu, J., Jin, S.W., Bautch, V.L. (2016) Notch regulates BMP responsiveness and lateral branching in vessel networks via SMAD6.. Nature communications. 7:13247
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- 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
- Kashiwada, T., Fukuhara, S., Terai, K., Tanaka, T., Wakayama, Y., Ando, K., Nakajima, H., Fukui, H., Yuge, S., Saito, Y., Gemma, A., Mochizuki, N. (2015) β-catenin-dependent transcription is central to Bmp-mediated formation of venous vessels. Development (Cambridge, England). 142(3):497-509
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