Gene
smad4b
- ID
- ZDB-GENE-060130-140
- Name
- SMAD family member 4b
- Symbol
- smad4b Nomenclature History
- Previous Names
-
- gb:cr929477
- sb:eu670
- Type
- protein_coding_gene
- Location
- Chr: 5 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 regulation of transcription by RNA polymerase II. Predicted to act 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. Human ortholog(s) of this gene implicated in several diseases, including female reproductive organ cancer (multiple); hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome; juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome; and seminoma. Orthologous to human SMAD4 (SMAD family member 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu670 (1 image)
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 |
|---|---|---|---|
| juvenile polyposis syndrome | Alliance | Polyposis, juvenile intestinal | 174900 |
| juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome | Alliance | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 175050 |
| pancreatic carcinoma | Alliance | Pancreatic cancer, somatic | 260350 |
| Myhre syndrome | 139210 |
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:A0A8M3B256 | InterPro | 505 | |||||||
| UniProtKB:A0A8M9PY51 | InterPro | 341 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smad4 (1 of many)-201
(1)
|
Ensembl | 1,104 nt | ||
| mRNA |
smad4b-201
(1)
|
Ensembl | 669 nt |
Interactions and Pathways
No data available
Plasmids
No data available