MED17: Mediator Complex Subunit 17
A key component of the Mediator complex involved in transcriptional regulation and associated with neurological disorders.
Gene Information Card
| Symbol | MED17 |
|---|---|
| Full Name | Mediator Complex Subunit 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q21 |
| NCBI Gene ID | 9440 ncbi.nlm.nih.gov/gene/9440 |
| Ensembl ID | ENSG00000142453 |
| UniProt ID | Q9NVC6 |
| OMIM ID | 603810 |
| HGNC ID | 2375 |
| Aliases | DRIP80, TRAP80, ARC80, CRSP77, CRSP6, TSRP80 |
Description
MED17 encodes a component of the Mediator complex, a multiprotein coactivator required for RNA polymerase II transcription. The protein directly interacts with transcription factors and helps bridge regulatory signals to the basal transcription machinery. Mutations in MED17 are associated with infantile cerebral atrophy and progressive microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infantile cerebral atrophy with progressive microcephaly | Loss-of-function mutations in MED17 impair Mediator complex assembly and transcriptional activation, leading to neuronal degeneration. | OMIM #603810; PMID: 22960632 |
| Postnatal microcephaly with spasticity and brain atrophy | Homozygous missense mutations disrupt MED17 stability and interaction with other Mediator subunits. | ClinVar; PMID: 22960632 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.9 | Low |
| Testis | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 9.8 | Low expression |
| HepG2 | 8.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.319G>A (p.Gly107Arg) | Missense | Rare | Reduced protein stability and Mediator complex integrity |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of translation initiation, likely null allele |
| c.1072C>T (p.Arg358Trp) | Missense | Rare | Impaired interaction with MED14 and MED24 |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense and null mutations cause loss of MED17 function, leading to Mediator complex instability and transcriptional dysregulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity (GO:0003712) | • regulation of transcription by RNA polymerase II (GO:0006357) |
| • mediator complex (GO:0016592) | • nucleus (GO:0005634) |
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
Protein Summary
MED17 is a 651-amino acid protein (UniProt Q9NVC6) that forms part of the Mediator head module. It directly binds transcription factors such as VP16 and p53, facilitating the assembly of the pre-initiation complex. The protein contains a conserved N-terminal domain critical for Mediator integrity and a C-terminal region involved in regulatory interactions.
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