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
- Enables sequence-specific DNA binding activity. Contributes to transcription cis-regulatory region binding activity. Acts upstream of or within several processes, including determination of ventral identity; regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and striated muscle tissue development. Located in nucleus. Part of SMAD protein complex. Is expressed in several structures, including digestive system; head; heart; immature eye; and pleuroperitoneal region. 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
- 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 |
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Domain, Family, and Site Summary
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:B1PS58 | InterPro | 547 | |||||||
| UniProtKB:A0A8M6Z2Y5 | InterPro | 548 | |||||||
| UniProtKB:B1PS59 | InterPro | 505 | |||||||
| UniProtKB:A0A8M6Z8S9 | InterPro | 506 | |||||||
| UniProtKB:A0A8N7UYT7 | InterPro | 547 |
1 - 5 of 5
- 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 |
1 - 3 of 3
Interactions and Pathways
Plasmids
No data available
- Comparative Orthology
- Alliance