Gene
smad3b
- ID
- ZDB-GENE-030128-4
- Name
- SMAD family member 3b
- Symbol
- smad3b Nomenclature History
- Previous Names
-
- madh3b
- Smad3b (1)
- zgc:92234
- Type
- protein_coding_gene
- Location
- Chr: 18 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. Predicted to be involved in several processes, including cell differentiation; cell surface receptor protein serine/threonine kinase signaling pathway; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. Predicted to be part of heteromeric SMAD protein complex. Is expressed in several structures, including immature eye; lateral mesoderm; margin; nervous system; and tail bud. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 3; Lynch syndrome; and pancreatic cancer. Orthologous to human SMAD3 (SMAD family member 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Loeys-Dietz syndrome 3 | Alliance | Loeys-Dietz syndrome 3 | 613795 |
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:Q8AY16 | InterPro | 423 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smad3b-201
(1)
|
Ensembl | 2,167 nt |
Interactions and Pathways
Plasmids