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.

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 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
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