MED30 Gene - Mediator Complex Subunit 30
A key component of the Mediator complex involved in transcriptional regulation and human disease.
Gene Information Card
| Symbol | MED30 |
|---|---|
| Full Name | Mediator Complex Subunit 30 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.11 |
| NCBI Gene ID | 84943 ncbi.nlm.nih.gov/gene/84943 |
| Ensembl ID | ENSG00000164758 |
| UniProt ID | Q96HR3 |
| OMIM ID | 610196 |
| HGNC ID | HGNC:24231 |
| Aliases | MED30, THRAP6, TRAP25, MED30_HUMAN |
Description
MED30 encodes a subunit of the Mediator complex, a multiprotein complex that acts as a bridge between transcription factors and RNA polymerase II. MED30 is essential for transcriptional activation and repression of a wide range of genes. It is involved in development, cell growth, and differentiation. Mutations in MED30 have been linked to various diseases, including cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | MED30 overexpression may promote tumor growth by enhancing Wnt/β-catenin signaling. | COSMIC, PubMed |
| Prostate cancer | Altered MED30 expression is associated with poor prognosis and may influence androgen receptor signaling. | COSMIC, PubMed |
| Developmental disorders | Homozygous loss-of-function mutations in MED30 cause a syndromic form of intellectual disability and microcephaly. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.4 | Medium |
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Lung | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.1 | Cervical cancer cell line |
| HepG2 | 18.5 | Hepatocellular carcinoma cell line |
| K562 | 15.3 | Chronic myelogenous leukemia cell line |
| A549 | 12.7 | Lung carcinoma cell line |
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.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.200_201insA | Frameshift | <0.01% | Frameshift, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function mutations in MED30 cause a syndromic form of intellectual disability and microcephaly.
Gain of Function (GOF)
Overexpression of MED30 in colorectal cancer suggests a potential gain-of-function role in tumorigenesis.
Dominant Negative (DN)
No evidence for dominant-negative effects currently reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003712 (GO:0003712) | • GO:0006357 (GO:0006357) |
| • GO:0006355 (GO:0006355) | • GO:0005634 (GO:0005634) |
| • GO:0016592 (GO:0016592) |
Pathways
• Mediator complex
• Transcription
• Wnt signaling pathway
• Androgen receptor signaling
Protein Summary
MED30 is a 25 kDa protein that localizes to the nucleus. It is a component of the Mediator complex, which is required for the regulated transcription of nearly all RNA polymerase II-dependent genes. MED30 interacts with other Mediator subunits and transcription factors to facilitate the assembly of the pre-initiation complex. Its expression is ubiquitous but varies across tissues.
Related Services
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