ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 several processes, including myeloid cell development; negative regulation of DNA-templated transcription; and regulation of BMP signaling pathway. 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 | 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:F1QXZ9 | InterPro | 466 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
- Genome Browsers