Gene
smad3a
- ID
- ZDB-GENE-000509-3
- Name
- SMAD family member 3a
- Symbol
- smad3a Nomenclature History
- Previous Names
-
- madh3a
- smad3 (1)
- wu:fa99e03
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Enables sequence-specific DNA binding activity. Acts upstream of or within regulation of DNA-templated transcription. Predicted to be located in cytoplasm and nucleus. Predicted to be part of heteromeric SMAD protein complex. Is expressed in immature eye; integument; somite; 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
- 10 figures from 9 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:Q8AY15 | InterPro | 425 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smad3a-201
(1)
|
Ensembl | 6,173 nt |
Interactions and Pathways
Plasmids
No data available