MED20 Gene - Mediator Complex Subunit 20
Essential component of the Mediator complex involved in transcriptional regulation
Gene Information Card
| Symbol | MED20 |
|---|---|
| Full Name | Mediator Complex Subunit 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 9477 ncbi.nlm.nih.gov/gene/9477 |
| Ensembl ID | ENSG00000124641 |
| UniProt ID | Q9H944 |
| OMIM ID | 612915 |
| HGNC ID | 16846 |
| Aliases | TRFP, PROSIT1, fSAP19, mediator complex subunit 20 |
Description
MED20 encodes a subunit of the Mediator complex, a multiprotein coactivator that bridges DNA-binding transcription factors and RNA polymerase II. MED20 is essential for transcriptional activation and repression, and it plays a role in development, cell growth, and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered MED20 expression may affect transcriptional programs driving tumorigenesis | COSMIC; PMID: 23455423 |
| Colorectal cancer | MED20 mutations or dysregulation linked to aberrant Wnt/β-catenin signaling | COSMIC; PMID: 25691885 |
| Hepatocellular carcinoma | MED20 overexpression correlates with poor prognosis and altered gene expression | COSMIC; PMID: 27557514 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 9.8 | Medium |
| Liver | 8.5 | Low |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.1 | Embryonic kidney, high expression |
| HeLa | 11.7 | Cervical carcinoma, moderate expression |
| HepG2 | 9.2 | Hepatocellular carcinoma, moderate expression |
| MCF7 | 8.5 | Breast cancer, moderate expression |
| K562 | 6.8 | Leukemia, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.124C>T | Nonsense | <0.01% | Predicted loss of function |
| c.256_257insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants likely cause loss of MED20 function, impairing Mediator complex assembly and transcriptional regulation.
Gain of Function (GOF)
No gain-of-function mutations reported in MED20.
Dominant Negative (DN)
No dominant-negative mutations reported in MED20.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity | • RNA polymerase II transcription regulatory region sequence-specific DNA binding |
| • mediator complex | • nucleus |
| • transcription initiation from RNA polymerase II promoter |
Pathways
• Mediator complex assembly
• RNA polymerase II transcription initiation
• Gene expression (Transcription)
Protein Summary
MED20 is a 211-amino acid protein (UniProt Q9H944) that forms part of the Mediator complex head module. It interacts with other subunits to facilitate the assembly of the pre-initiation complex and regulate transcription. The protein contains a conserved domain involved in protein-protein interactions within the Mediator complex.
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