MED13
Mediator Complex Subunit 13
Gene Information Card
| Symbol | MED13 |
|---|---|
| Full Name | Mediator Complex Subunit 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 9969 ncbi.nlm.nih.gov/gene/9969 |
| Ensembl ID | ENSG00000108510 |
| UniProt ID | Q9UHV7 |
| OMIM ID | 603808 |
| HGNC ID | 22474 |
| Aliases | TRAP240, ARC250, DRIP250, THRAP1 |
Description
MED13 encodes a component of the Mediator complex, a multiprotein coactivator required for RNA polymerase II transcription. The Mediator complex bridges transcription factors and the basal transcription machinery, regulating gene expression. MED13 is involved in developmental processes, metabolism, and cellular signaling. Mutations in MED13 have been associated with intellectual disability, cardiac anomalies, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (autosomal dominant) | Loss-of-function mutations in MED13 disrupt Mediator complex assembly, impairing neuronal gene expression | PMID: 25558065 |
| Cardiac anomalies (e.g., ventricular septal defect) | MED13 haploinsufficiency alters cardiac transcriptional programs during development | PMID: 25558065 |
| Colorectal cancer | MED13 overexpression or amplification may enhance Wnt/β-catenin signaling | PMID: 23334667 |
| Breast cancer | MED13 copy number gains correlate with poor prognosis and altered estrogen receptor signaling | PMID: 23334667 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Liver | 8.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.3 | High |
| Lung | 7.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney |
| HeLa | 11.5 | Cervical carcinoma |
| K562 | 9.8 | Leukemia |
| HepG2 | 8.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.1024_1025del (p.Leu342fs) | Frameshift | Rare | Loss of function; cardiac anomalies |
| c.2150A>G (p.Asn717Ser) | Missense | <0.01% | Unknown significance; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; associated with neurodevelopmental disorders.
Gain of Function (GOF)
Not well characterized; amplification in cancer may lead to increased Mediator activity and oncogenic transcription.
Dominant Negative (DN)
Not reported for MED13.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
• Wnt signaling pathway (KEGG: hsa04310)
Protein Summary
MED13 is a 251 kDa protein (2210 amino acids) that serves as a scaffold within the Mediator complex, interacting with other subunits and transcription factors. It contains a conserved N-terminal domain and a C-terminal region involved in kinase binding. MED13 is essential for Mediator complex stability and function, regulating genes involved in development, metabolism, and cell cycle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED13 Knockout HEK293 Cell Line | EDJ-KQ6846 | Human | 9969 | Details Get a Quote |
| MED13L Knockout HEK293 Cell Line | EDJ-KQ8001 | Human | 23389 | Details Get a Quote |
| MED13 Knockout A-549 Cell Line | EDJ-KQ31399 | Human | 9969 | Details Get a Quote |
| MED13 Knockout HCT 116 Cell Line | EDJ-KQ31400 | Human | 9969 | Details Get a Quote |
| MED13 Knockout HeLa Cell Line | EDJ-KQ31401 | Human | 9969 | Details Get a Quote |
| MED13L Knockout A-549 Cell Line | EDJ-KQ33751 | Human | 23389 | Details Get a Quote |
| MED13L Knockout HCT 116 Cell Line | EDJ-KQ33752 | Human | 23389 | Details Get a Quote |
| MED13L Knockout HeLa Cell Line | EDJ-KQ33753 | Human | 23389 | Details Get a Quote |
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