MED12L Gene - Mediator Complex Subunit 12 Like
A comprehensive resource on MED12L, including genomic information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | MED12L |
|---|---|
| Full Name | Mediator Complex Subunit 12 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.1 |
| NCBI Gene ID | 116931 ncbi.nlm.nih.gov/gene/116931 |
| Ensembl ID | ENSG00000144891 |
| UniProt ID | Q86YW9 |
| OMIM ID | 611318 |
| HGNC ID | 26450 |
| Aliases | TRALP, TNRC11L, MED12L1 |
Description
MED12L (Mediator Complex Subunit 12 Like) is a protein-coding gene that encodes a component of the Mediator complex, a multiprotein complex essential for transcriptional regulation. The encoded protein is similar to MED12 and is involved in RNA polymerase II-dependent transcription. Mutations in MED12L have been associated with intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with speech delay and dysmorphic facies | Loss-of-function mutations in MED12L disrupt Mediator complex function, impairing transcriptional regulation of genes critical for neurodevelopment. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in MED12L may contribute to ASD risk through altered synaptic gene expression. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 8.5 | Medium |
| Testis | 6.2 | Medium |
| Heart | 4.1 | Low |
| Liver | 1.3 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 7.8 | Neuronal model |
| HEK293 (embryonic kidney) | 4.5 | Common cell line |
| HeLa (cervical carcinoma) | 3.2 | Epithelial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.567_568del (p.Glu189fs) | Frameshift | Rare | Loss of function; reported in neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature termination codons and likely nonsense-mediated decay, resulting in haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in MED12L.
Dominant Negative (DN)
No dominant-negative mutations reported in MED12L.
View complete mutation data：
Gene Ontology (GO)
| • transcription coregulator activity (GO:0003712) | • regulation of transcription by RNA polymerase II (GO:0006357) |
| • mediator complex (GO:0016592) |
Pathways
• Mediator complex (Reactome: R-HSA-212436)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
Protein Summary
The MED12L protein is a 2,200-amino acid subunit of the Mediator complex, which bridges transcription factors and RNA polymerase II. It contains a MED12-like domain and is involved in regulating gene expression during development, particularly in the nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED12L Knockout HEK293 Cell Line | EDJ-KQ7585 | Human | 116931 | Details Get a Quote |
| MED12L Knockout HCT 116 Cell Line | EDJ-KQ32911 | Human | 116931 | Details Get a Quote |
| MED12L Knockout HeLa Cell Line | EDJ-KQ57999 | Human | 116931 | Details Get a Quote |
| MED12L Knockout A-549 Cell Line | EDJ-KQ66486 | Human | 116931 | Details Get a Quote |
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