Gene
smad4a
- ID
- ZDB-GENE-990603-8
- Name
- SMAD family member 4a
- Symbol
- smad4a Nomenclature History
- Previous Names
-
- madh4
- smad4
- SMA- and MAD-related protein 4
- zmp:0000000768
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Exhibits sequence-specific DNA binding activity. Contributes to transcription regulatory region DNA binding activity. Involved in convergent extension; determination of ventral identity; and striated muscle tissue development. Localizes to SMAD protein complex and nucleus. 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. Is expressed in several structures, including digestive system; head; heart; immature eye; and pleuroperitoneal region. Orthologous to human SMAD4 (SMAD family member 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 4 publications
- 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 | 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:B1PS58
|
547 | |||||||
|
UniProtKB:A0A8M6Z2Y5
|
548 | |||||||
|
UniProtKB:B1PS59
|
505 | |||||||
|
UniProtKB:A0A8M6Z8S9
|
506 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smad4a-201
(1)
|
Ensembl | 2,701 nt | ||
| mRNA |
smad4a-202
(1)
|
Ensembl | 1,518 nt | ||
| mRNA |
smad4a-203
(1)
|
Ensembl | 1,074 nt |
Interactions and Pathways
Plasmids
No data available
- Comparative Orthology
- Alliance