MED16 Gene - Mediator Complex Subunit 16
A key component of the Mediator complex involved in transcriptional regulation and associated with developmental disorders and cancer.
Gene Information Card
| Symbol | MED16 |
|---|---|
| Full Name | Mediator Complex Subunit 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10025 ncbi.nlm.nih.gov/gene/10025 |
| Ensembl ID | ENSG00000175221 |
| UniProt ID | Q9Y2X0 |
| OMIM ID | 602291 |
| HGNC ID | 23755 |
| Aliases | DRIP92, TRAP92, THRAP5, ARC92, MED6B |
Description
MED16 encodes a subunit of the Mediator complex, a multiprotein coactivator that bridges transcription factors and RNA polymerase II to regulate gene expression. MED16 is essential for transcriptional activation and repression, and its dysfunction is linked to developmental abnormalities and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorder with intellectual disability | Loss-of-function mutations impair Mediator complex assembly, disrupting transcription of genes critical for neurodevelopment. | PMID: 31036916 |
| Colorectal cancer | Overexpression of MED16 enhances Wnt/β-catenin signaling, promoting cell proliferation. | PMID: 25605248 |
| Breast cancer | MED16 amplification correlates with poor prognosis and increased metastatic potential. | PMID: 27562872 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Heart | 7.1 | Low |
| Liver | 6.8 | Low |
| Kidney | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| MCF7 | 10.4 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.1042G>A (p.Glu348Lys) | Missense | 0.02% | Unknown effect, reported in developmental disorder |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing Mediator complex integrity and transcriptional regulation.
Gain of Function (GOF)
Not well characterized; overexpression in cancers may confer gain-of-function via enhanced signaling.
Dominant Negative (DN)
Missense mutations in conserved domains may disrupt complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• Wnt signaling pathway (KEGG: hsa04310)
• Transcriptional regulation by TP53 (Reactome: R-HSA-3700989)
Protein Summary
MED16 is a 92 kDa protein that forms part of the Mediator complex's head module. It directly interacts with transcription factors and RNA polymerase II to facilitate transcription initiation. The protein contains a conserved Med16 domain and is ubiquitously expressed, with highest levels in testis. Post-translational modifications include phosphorylation, which modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED16 Knockout HEK293 Cell Line | EDJ-KQ6871 | Human | 10025 | Details Get a Quote |
| MED16 Knockout HeLa Cell Line | EDJ-KQ30083 | Human | 10025 | Details Get a Quote |
| MED16 Knockout A-549 Cell Line | EDJ-KQ31455 | Human | 10025 | Details Get a Quote |
| MED16 Knockout HCT 116 Cell Line | EDJ-KQ31456 | Human | 10025 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
