MED13 Chromosome 17
Mediator complex subunit 13
Upload your DNA to see your personal genotypes for variants in MED13.
What This Gene Does
This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mediator complex
Locus Type
gene with protein product
Location
17q23.2
Ensembl
ENSG00000108510
Associated Conditions (7)
Developmental disorder
Inborn genetic diseases
See cases
MED13-related disorder
Intellectual developmental disorder 61
CDK8-kinase module-associated disorder
Neurodevelopmental disorder
Key Variants
RS1260109664
Conflicting classifications of pathogenicity
Developmental disorder, Inborn genetic diseases, Developmental disorder
Health Risk
RS199889415
Conflicting classifications of pathogenicity
Inborn genetic diseases, See cases, Inborn genetic diseases
Health Risk
RS201188543
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201549270
Conflicting classifications of pathogenicity
MED13-related disorder, Intellectual developmental disorder 61, MED13-related disorder
Health Risk
RS2143410400
Conflicting classifications of pathogenicity
Intellectual developmental disorder 61, Intellectual developmental disorder 61
Health Risk
RS2509277010
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS367927155
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder 61, Inborn genetic diseases
Health Risk
RS368162935
Conflicting classifications of pathogenicity
Intellectual developmental disorder 61, Inborn genetic diseases, Intellectual developmental disorder 61
Health Risk
RS369528090
Conflicting classifications of pathogenicity
Intellectual developmental disorder 61, Inborn genetic diseases, Intellectual developmental disorder 61
Health Risk
RS371928096
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS539921712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS745772634
Conflicting classifications of pathogenicity
Intellectual developmental disorder 61, Intellectual developmental disorder 61
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1260109664 | Health Risk | Conflicting classifications of pathogenicity | Developmental disorder, Inborn genetic diseases, Developmental disorder |
| RS199889415 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, See cases, Inborn genetic diseases |
| RS201188543 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201549270 | Health Risk | Conflicting classifications of pathogenicity | MED13-related disorder, Intellectual developmental disorder 61, MED13-related disorder |
| RS2143410400 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2509277010 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS367927155 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder 61, Inborn genetic diseases |
| RS368162935 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder 61, Inborn genetic diseases, Intellectual developmental disorder 61 |
| RS369528090 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder 61, Inborn genetic diseases, Intellectual developmental disorder 61 |
| RS371928096 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS539921712 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745772634 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS763070657 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder 61, Inborn genetic diseases, Intellectual developmental disorder 61 |
| RS776980871 | Health Risk | Conflicting classifications of pathogenicity | MED13-related disorder, Inborn genetic diseases, MED13-related disorder |
| RS779358191 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder 61, Inborn genetic diseases |
| RS1567938478 | Health Risk | Likely pathogenic | CDK8-kinase module-associated disorder, CDK8-kinase module-associated disorder |
| RS1603405457 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2080338119 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2143288193 | Health Risk | Likely pathogenic | — |
| RS2143387678 | Health Risk | Likely pathogenic | — |
| RS2143460477 | Health Risk | Likely pathogenic | — |
| RS2143672313 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2143678134 | Health Risk | Likely pathogenic | — |
| RS2509205248 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2509216769 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2509226907 | Health Risk | Likely pathogenic | — |
| RS2509241751 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2509246568 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2509275463 | Health Risk | Likely pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2509282650 | Health Risk | Likely pathogenic | MED13-related disorder, MED13-related disorder |
| RS752067544 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS777135960 | Health Risk | Likely pathogenic | — |
| RS1044065786 | Health Risk | Pathogenic | — |
| RS1256610157 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1300242966 | Health Risk | Pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS1567940265 | Health Risk | Pathogenic | — |
| RS1567975588 | Health Risk | Pathogenic | — |
| RS1603392097 | Health Risk | Pathogenic | — |
| RS1603392856 | Health Risk | Pathogenic | — |
| RS1603394630 | Health Risk | Pathogenic | — |
| RS1603396835 | Health Risk | Pathogenic | — |
| RS1603410966 | Health Risk | Pathogenic | — |
| RS2079910913 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2080047817 | Health Risk | Pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2080121850 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2143288270 | Health Risk | Pathogenic | — |
| RS2143386698 | Health Risk | Pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2143459289 | Health Risk | Pathogenic | — |
| RS2143471373 | Health Risk | Pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |
| RS2143687619 | Health Risk | Pathogenic | Intellectual developmental disorder 61, Intellectual developmental disorder 61 |