MED23: Mediator Complex Subunit 23
A key transcriptional coactivator involved in development, intellectual disability, and cancer
Gene Information Card
| Symbol | MED23 |
|---|---|
| Full Name | Mediator Complex Subunit 23 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 9439 ncbi.nlm.nih.gov/gene/9439 |
| Ensembl ID | ENSG00000112182 |
| UniProt ID | Q9ULK4 |
| OMIM ID | 605044 |
| HGNC ID | 2372 |
| Aliases | ARC130, CRSP130, CRSP3, DRIP130, SUR2, TRAP130 |
Description
MED23 is a component of the Mediator complex, a multiprotein coactivator that bridges transcription factors and RNA polymerase II. It plays a critical role in transcriptional regulation, cell growth, and development. Mutations in MED23 are associated with autosomal recessive intellectual disability and have been linked to various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 18 (MRT18) | Loss-of-function mutations impair Mediator complex assembly and transcription of target genes, leading to neurodevelopmental deficits. | OMIM #614249 |
| Colorectal cancer | MED23 overexpression or amplification may enhance Wnt/β-catenin signaling, promoting tumorigenesis. | COSMIC, PubMed studies |
| Lung cancer | Altered MED23 expression correlates with poor prognosis and may influence transcriptional programs in tumor cells. | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Lung | 10.1 | Medium |
| Kidney | 9.8 | Low |
| Testis | 18.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| A549 | 11.5 | Lung cancer cell line |
| HEK293 | 13.0 | Embryonic kidney cell line |
| K562 | 9.7 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.1678G>A (p.Gly560Arg) | Missense | Rare | Impaired Mediator complex interaction; intellectual disability |
| c.2023_2024del (p.Val675fs) | Frameshift | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt MED23 protein stability or Mediator complex assembly lead to loss of transcriptional coactivation function.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may confer gain-of-function effects via enhanced transcription of oncogenic targets.
Dominant Negative (DN)
Not reported for MED23; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
• Wnt/β-catenin signaling (KEGG: hsa04310)
Protein Summary
MED23 is a 130 kDa protein that forms part of the Mediator complex's middle module. It interacts with transcription factors such as ELK1 and β-catenin to facilitate RNA polymerase II recruitment. The protein contains a conserved Med23 domain and is essential for embryonic development in model organisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED23 Knockout HEK293 Cell Line | EDJ-KQ177 | Human | 9439 | Details Get a Quote |
| MED23 Knockout HCT 116 Cell Line | EDJ-KQ42987 | Human | 9439 | Details Get a Quote |
| MED23 Knockout A-549 Cell Line | EDJ-KQ44204 | Human | 9439 | Details Get a Quote |
| MED23 Knockout HeLa Cell Line | EDJ-KQ44206 | Human | 9439 | Details Get a Quote |
