MED29: A Mediator Complex Subunit with Emerging Roles in Transcriptional Regulation
Comprehensive genomic and proteomic overview of MED29, a component of the Mediator complex involved in RNA polymerase II transcription.
Gene Information Card
| Symbol | MED29 |
|---|---|
| Full Name | Mediator Complex Subunit 29 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 55588 ncbi.nlm.nih.gov/gene/55588 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9NX70 |
| OMIM ID | 612769 |
| HGNC ID | 25433 |
| Aliases | IXL, MGC10500, mediator of RNA polymerase II transcription subunit 29 |
Description
MED29 (Mediator Complex Subunit 29) encodes a component of the Mediator complex, a multiprotein coactivator required for RNA polymerase II transcription. MED29 is involved in bridging transcription factors and the basal transcription machinery, thereby regulating gene expression. It is also known as IXL (intersex-like) due to sequence similarity to Drosophila intersex. The gene is located on chromosome 19q13.2 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | MED29 may modulate transcription of oncogenes or tumor suppressors via Mediator complex; altered expression reported in some tumors. | Limited; expression data from COSMIC and literature. |
| Developmental disorders | Potential role in transcriptional regulation during development; mutations in Mediator subunits linked to intellectual disability. | No direct evidence for MED29; inferred from Mediator complex function. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal gland | 9.8 | Medium |
| Brain | 7.1 | Low |
| Liver | 6.5 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 12.1 | Moderate expression |
| K562 | 8.7 | Low expression |
| A549 | 7.4 | 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% | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for MED29.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative mutations.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
Protein Summary
MED29 is a 220-amino acid protein (UniProt Q9NX70) that localizes to the nucleus and is a subunit of the Mediator complex. It contains a conserved domain found in the Drosophila intersex protein. MED29 interacts with other Mediator subunits to facilitate transcription initiation. Its expression is moderate in testis and thyroid, with lower levels in other tissues. No disease-causing mutations have been firmly established, but its role in transcriptional regulation suggests potential involvement in cancer and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED29 Knockout HEK293 Cell Line | EDJ-KQ51458 | Human | 55588 | Details Get a Quote |
| MED29 Knockout HeLa Cell Line | EDJ-KQ56606 | Human | 55588 | Details Get a Quote |
| MED29 Knockout A-549 Cell Line | EDJ-KQ65105 | Human | 55588 | Details Get a Quote |
| MED29 Knockout HCT 116 Cell Line | EDJ-KQ73551 | Human | 55588 | Details Get a Quote |