Gene
smad6a
- ID
- ZDB-GENE-011015-1
- Name
- SMAD family member 6a
- Symbol
- smad6a Nomenclature History
- Previous Names
-
- madh6
- smad6
- wu:fb22g05 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity and DNA-binding transcription factor activity. Involved in heart development; negative regulation of BMP signaling pathway; and negative regulation of pathway-restricted SMAD protein phosphorylation. Predicted to localize to cytoplasm; nucleus; and transcription factor complex. Human ortholog(s) of this gene implicated in aortic valve disease 2 and craniosynostosis. Is expressed in heart primordium; heart rudiment; and heart tube. Orthologous to human SMAD6 (SMAD family member 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
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 | 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:A0A8M1N6X6
|
456 | |||||||
|
UniProtKB:A2VCX3
|
233 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smad6a-201
(1)
|
Ensembl | 2,690 nt | ||
| mRNA |
smad6a-202
(1)
|
Ensembl | 1,060 nt |
Interactions and Pathways
No data available
Plasmids
No data available