MED13L Gene: Mediator Complex Subunit 13L
Key regulator of transcription and cardiac development; associated with intellectual disability and congenital heart defects
Gene Information Card
| Symbol | MED13L |
|---|---|
| Full Name | Mediator Complex Subunit 13L |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.21 |
| NCBI Gene ID | 23389 ncbi.nlm.nih.gov/gene/23389 |
| Ensembl ID | ENSG00000123066 |
| UniProt ID | Q71F56 |
| OMIM ID | 608771 |
| HGNC ID | 22962 |
| Aliases | PROSIT240, THRAP2, TRAP240b, MRT6 |
Description
MED13L encodes a subunit of the Mediator complex, a multiprotein coactivator that bridges DNA-bound transcription factors and RNA polymerase II to regulate gene expression. The protein is particularly important for cardiac development and neuronal function. Heterozygous loss-of-function mutations cause MED13L haploinsufficiency syndrome, characterized by intellectual disability, speech delay, and congenital heart defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MED13L haploinsufficiency syndrome | Loss-of-function mutations reduce MED13L protein levels, impairing Mediator complex function and transcriptional regulation during development | ClinVar, OMIM |
| Intellectual disability, autosomal dominant 61 | De novo missense or truncating mutations disrupt neuronal gene expression programs | OMIM #618009 |
| Congenital heart defects (e.g., ventricular septal defect) | MED13L deficiency alters cardiac transcription factor activity, leading to structural malformations | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain (cerebral cortex) | 8.3 | Low |
| Testis | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (lymphoblast) | 5.2 | Low expression |
| HeLa (cervical carcinoma) | 3.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 2.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103*) | Nonsense | Rare | Premature stop; loss of function |
| c.1672del (p.Gln558fs) | Frameshift | Rare | Loss of function; haploinsufficiency |
| c.3500G>A (p.Arg1167Gln) | Missense | Rare | Likely damaging; altered protein interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations leading to haploinsufficiency are the primary mechanism in MED13L-related disorders.
Gain of Function (GOF)
Not reported for MED13L.
Dominant Negative (DN)
Not established; most pathogenic variants are loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • transcription coactivator activity (GO:0003712) | • regulation of transcription by RNA polymerase II (GO:0006357) |
| • nucleus (GO:0005634) | • mediator complex (GO:0016592) |
Pathways
• Mediator complex signaling (Reactome: R-HSA-212436)
• Developmental biology (Reactome: R-HSA-1266738)
Protein Summary
MED13L is a 2,010-amino-acid protein that forms part of the Mediator complex's kinase module. It interacts with CDK8 and other subunits to regulate RNA polymerase II transcription. The protein is essential for embryonic development, particularly of the heart and brain. Mutations cause a spectrum of neurodevelopmental and cardiac phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED13L Knockout HEK293 Cell Line | EDJ-KQ8001 | Human | 23389 | 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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