SMAD4
Universal Cellular Machinery · Transcription Factor Regulation
Why does SMAD4 work with other SMAD proteins?
SMAD4 makes a shared partner in TGF-beta-related signaling complexes. These complexes help turn receptor activation into coordinated changes in gene expression.
- Common Gene Name
- SMAD family member 4
- NCBI Gene ID
- 4089
- Chromosome
- 18
Clinical Evidence Status
Actionability report availableEstablished disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (10 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| pulmonary arterial hypertension | ClinGen gene-disease validity | Disputed | Autosomal dominant | View source 2022-11-21 |
| juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2023-04-18 |
| Myhre syndrome | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2025-10-29 |
| Hereditary hemorrhagic telangiectasia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-02 | |
| Juvenile polyposis syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-02 | |
| Cholangiocarcinoma | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2020-02 | |
| Juvenile polyposis syndrome | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2023-02-03 |
| Hereditary Hemorrhagic Telangiectasia | ClinGen clinical actionability | Scored report; not a validity grade | Adult | View source 2024-03-24 |
| Juvenile polyposis syndrome | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2023-02-03 |
| Hereditary Hemorrhagic Telangiectasia | ClinGen clinical actionability | Scored report; not a validity grade | Pediatric | View source 2024-03-24 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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