MED27 Gene: Mediator Complex Subunit 27
A key component of the Mediator complex involved in transcriptional regulation and linked to neurodevelopmental disorders.
Gene Information Card
| Symbol | MED27 |
|---|---|
| Full Name | Mediator Complex Subunit 27 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 9442 ncbi.nlm.nih.gov/gene/9442 |
| Ensembl ID | ENSG00000107242 |
| UniProt ID | Q9H244 |
| OMIM ID | 605044 |
| HGNC ID | 2377 |
| Aliases | CRSP8, TRAP37, MED27, CRSP34, ARC34 |
Description
MED27 encodes a component of the Mediator complex, a multiprotein complex that acts as a bridge between transcription factors and RNA polymerase II to regulate gene transcription. MED27 is essential for proper transcriptional activation and repression, and mutations in this gene have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in MED27 disrupt Mediator complex function, impairing transcriptional regulation of genes critical for neuronal development. | PMID: 33057163 |
| Intellectual disability | MED27 variants are linked to autosomal recessive intellectual disability, likely due to defective transcriptional control during brain development. | PMID: 33057163 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression in embryonic kidney cells |
| K562 | 9.5 | Moderate expression in leukemia cells |
| HeLa | 8.2 | Moderate expression in cervical cancer cells |
| HepG2 | 7.1 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss of function |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Potential structural disruption |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent MED27 protein, impairing Mediator complex assembly and transcriptional regulation.
Gain of Function (GOF)
No gain-of-function mutations reported for MED27.
Dominant Negative (DN)
No dominant-negative mutations reported for MED27.
View complete mutation data：
Gene Ontology (GO)
| • transcription coregulator activity (GO:0003712) | • nucleus (GO:0005634) |
| • mediator complex (GO:0016592) | • regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
Protein Summary
MED27 is a 34 kDa protein that localizes to the nucleus and is a subunit of the Mediator complex. It interacts with other Mediator subunits to facilitate the assembly of the pre-initiation complex and regulate transcription. The protein contains a conserved domain that is critical for its integration into the complex.
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