Gene
smad9
- ID
- ZDB-GENE-031014-1
- Name
- SMAD family member 9
- Symbol
- smad9 Nomenclature History
- Previous Names
-
- madh9
- smad8
- zgc:103407 (1)
- Type
- protein_coding_gene
- Location
- Chr: 10 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. Acts upstream of or within dorsal/ventral pattern formation; myeloid cell development; and negative 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 several structures, including cardiovascular system; gut; nervous system; optic vesicle; and periderm. Used to study arteriovenous malformations of the brain. Human ortholog(s) of this gene implicated in primary pulmonary hypertension. Orthologous to human SMAD9 (SMAD family member 9).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103407 (19 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| primary pulmonary hypertension | Alliance | Pulmonary hypertension, primary, 2 | 615342 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| arteriovenous malformations of the brain | zf531Tg + MO1-smad9 | standard conditions | Walcott et al., 2018 |
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:F1QXZ9
|
466 |
Interactions and Pathways
No data available
Plasmids