Gene
smad2
- ID
- ZDB-GENE-990603-7
- Name
- SMAD family member 2
- Symbol
- smad2 Nomenclature History
- Previous Names
-
- madh2
- fj43c06
- SMA- and MAD-related protein 2
- wu:fj43c06
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Enables DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic pattern specification and intracellular signal transduction. Acts upstream of with a positive effect on nodal signaling pathway. Acts upstream of or within several processes, including convergent extension involved in axis elongation; negative regulation of signal transduction; and positive regulation of oocyte development. Is active in chromatin and nucleus. Is expressed in brain; head; heart; immature eye; and tail bud. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 6; Lynch syndrome; cervical cancer; and ovarian cancer. Orthologous to human SMAD2 (SMAD family member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 12 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:55212 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-smad2 | Wu et al., 2018 | |
MO1-smad2 | N/A | (3) |
MO2-smad2 | N/A | (3) |
MO3-smad2 | N/A | Jia et al., 2008 |
MO4-smad2 | N/A | Zhang et al., 2017 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Loeys-Dietz syndrome 6 | Alliance | Loeys-Dietz syndrome 6 | 619656 |
Congenital heart defects, multiple types, 8, with or without heterotaxy | 619657 |
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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:A0A8M9PTD0 | InterPro | 438 | |||||||
UniProtKB:A0A8M2B2F4 | InterPro | 464 | |||||||
UniProtKB:Q9I9P9 | InterPro | 468 |
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Interactions and Pathways
Plasmids
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(actb2:EGFP-smad2) |
|
| 1 | (4) | |
Tg(ubb:GFP-smad2) |
|
| 1 | Liu et al., 2018 | |
Tg(Xla.Eef1a1:Venus-smad2) |
|
| 1 | (3) |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-88L16 | ZFIN Curated Data | |
Contained in | BAC | DKEY-126N10 | ZFIN Curated Data | |
Encodes | EST | fj43c06 | ||
Encodes | cDNA | MGC:55212 | ZFIN Curated Data | |
Encodes | cDNA | MGC:113963 | ZFIN Curated Data | |
Encodes | cDNA | MGC:192434 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001290015 (1) | 3895 nt | ||
Genomic | GenBank:CR536613 (1) | 174800 nt | ||
Polypeptide | UniProtKB:Q9I9P9 (1) | 468 aa |
- Luo, Y.W., Fang, Y., Zeng, H.X., Ji, Y.C., Wu, M.Z., Li, H., Chen, J.Y., Zheng, L.M., Fang, J.H., Zhuang, S.M. (2024) HIF1α Counteracts TGFβ1-Driven TSP1 Expression in Endothelial Cells to Stimulate Angiogenesis in the Hypoxic Tumor Microenvironment. Cancer research. 85(1):69-83
- Xiao, W., Hu, C., Ni, Y., Wang, J., Jiao, K., Zhou, M., Li, Z. (2024) 27-Hydroxycholesterol activates the GSK-3β/β-catenin signaling pathway resulting in intestinal fibrosis by inducing oxidative stress: effect of dietary interventions. Inflammation research : official journal of the European Histamine Research Society ... [et al.]. 73(2):289-304
- Celeghin, R., Risato, G., Beffagna, G., Cason, M., Bueno Marinas, M., Della Barbera, M., Facchinello, N., Giuliodori, A., Brañas Casas, R., Caichiolo, M., Vettori, A., Grisan, E., Rizzo, S., Dalla Valle, L., Argenton, F., Thiene, G., Tiso, N., Pilichou, K., Basso, C. (2023) A novel DSP zebrafish model reveals training- and drug-induced modulation of arrhythmogenic cardiomyopathy phenotypes. Cell death discovery. 9:441441
- Jiao, K., Yang, K., Wang, J., Ni, Y., Hu, C., Liu, J., Zhou, M., Zheng, J., Li, Z. (2023) 27-Hydroxycholesterol induces liver fibrosis via down-regulation of trimethylation of histone H3 at lysine 27 by activating oxidative stress; effect of nutrient interventions. Free radical biology & medicine. 210:462-477
- Zhao, Y., Wang, H., He, T., Ma, B., Chen, G., Tzeng, C. (2023) Knockdown of Yap attenuates TAA-induced hepatic fibrosis by interaction with hedgehog signals. Journal of cell communication and signaling. 17(4):1335-1354
- Guglielmi, L., Heliot, C., Kumar, S., Alexandrov, Y., Gori, I., Papaleonidopoulou, F., Barrington, C., East, P., Economou, A.D., French, P.M.W., McGinty, J., Hill, C.S. (2021) Smad4 controls signaling robustness and morphogenesis by differentially contributing to the Nodal and BMP pathways. Nature communications. 12:6374
- Ibrahim, S., Johnson, M., Stephens, C.H., Xu, J., Moore, R., Mariani, A., Contreras, C., Syed, F., Mirmira, R.G., Anderson, R.M., Sims, E.K. (2021) β-Cell pre-miR-21 Induces Dysfunction and Loss of Cellular Identity by Targeting Transforming Growth Factor Beta 2 (Tgfb2) and Smad Family Member 2 (Smad2) mRNAs. Molecular metabolism. 53:101289
- Lord, N.D., Carte, A.N., Abitua, P.B., Schier, A.F. (2021) The pattern of Nodal morphogen signaling is shaped by co-receptor expression. eLIFE. 10:
- Pálfy, M., Schulze, G., Valen, E., Vastenhouw, N.L. (2020) Chromatin accessibility established by Pou5f3, Sox19b and Nanog primes genes for activity during zebrafish genome activation. PLoS Genetics. 16:e1008546
- Soh, G.H., Pomreinke, A.P., Müller, P. (2020) Integration of Nodal and BMP Signaling by Mutual Signaling Effector Antagonism. Cell Reports. 31:107487
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