MED15 Gene
Mediator Complex Subunit 15
Gene Information Card
| Symbol | MED15 |
|---|---|
| Full Name | Mediator Complex Subunit 15 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 51586 ncbi.nlm.nih.gov/gene/51586 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | Q96RN5 |
| OMIM ID | 607372 |
| HGNC ID | 22948 |
| Aliases | ARC105, CAG7A, CTG7A, PCQAP, TIG-1, TNRC7 |
Description
MED15 encodes a subunit of the Mediator complex, a multiprotein coactivator essential for RNA polymerase II transcription. MED15 bridges transcription factors and the basal transcription machinery, playing a critical role in gene activation, cell growth, and development. It is involved in pathways such as TGF-β and Notch signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MED15 overexpression or amplification enhances oncogenic transcription programs, e.g., in TGF-β signaling. | COSMIC, NCBI |
| Intellectual disability (candidate) | Deletions at 22q11.21 including MED15 may contribute to neurodevelopmental phenotypes. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Lung | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.3 | Embryonic kidney |
| HeLa | 8.7 | Cervical carcinoma |
| K562 | 7.1 | Leukemia |
| HepG2 | 6.5 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function |
| Amplification | Copy number gain | Variable | Gain of function (cancer) |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated protein, potentially linked to developmental disorders.
Gain of Function (GOF)
Gene amplification or overexpression observed in cancers, promoting tumor growth.
Dominant Negative (DN)
Not well characterized; some missense variants may interfere with Mediator complex assembly.
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) | • nucleoplasm (GO:0005654) |
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• TGF-beta signaling pathway (KEGG: hsa04350)
• Notch signaling pathway (KEGG: hsa04330)
Protein Summary
MED15 is a 791-amino acid protein (UniProt Q96RN5) that contains a N-terminal domain for interaction with transcription factors and a C-terminal domain for Mediator complex assembly. It is ubiquitously expressed and shuttles between nucleus and cytoplasm. Post-translational modifications include phosphorylation and acetylation, regulating its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED15 Knockout HEK293 Cell Line | EDJ-KQ11151 | Human | 51586 | Details Get a Quote |
| MED15 Knockout A-549 Cell Line | EDJ-KQ39154 | Human | 51586 | Details Get a Quote |
| MED15 Knockout HCT 116 Cell Line | EDJ-KQ39155 | Human | 51586 | Details Get a Quote |
| MED15 Knockout HeLa Cell Line | EDJ-KQ39156 | Human | 51586 | Details Get a Quote |
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