MED12 Chromosome X
Mediator complex subunit 12
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What This Gene Does
The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]
Gene Info
Gene Group
Mediator complex
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000184634
Associated Conditions (22)
FG syndrome
FG syndrome 1
Familial thoracic aortic aneurysm and aortic dissection
MED12-related disorder
X-linked intellectual disability with marfanoid habitus
Blepharophimosis - intellectual disability syndrome
MKB type
Intellectual disability
X-linked MED12-related disorder
MED12-related intellectual disability syndrome
Cardiovascular phenotype
Cholestasis-pigmentary retinopathy-cleft palate syndrome
See cases
Nonpapillary renal cell carcinoma
History of neurodevelopmental disorder
Inborn genetic diseases
Ehlers-Danlos syndrome
classic type
7 conditions
Nonspecific Intellectual Disability
+2 more conditions
Key Variants
RS1006276729
Conflicting classifications of pathogenicity
FG syndrome, FG syndrome
Health Risk
RS1018026145
Conflicting classifications of pathogenicity
FG syndrome 1, FG syndrome, FG syndrome 1
Health Risk
RS1028187089
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1028631372
Conflicting classifications of pathogenicity
FG syndrome, Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
Health Risk
RS1042718707
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057522248
Conflicting classifications of pathogenicity
FG syndrome, FG syndrome
Health Risk
RS1189111600
Conflicting classifications of pathogenicity
MED12-related disorder, FG syndrome, MED12-related disorder
Health Risk
RS1213475397
Conflicting classifications of pathogenicity
FG syndrome, MED12-related disorder, FG syndrome
Health Risk
RS1246253918
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1247718783
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1255849432
Conflicting classifications of pathogenicity
FG syndrome, FG syndrome
Health Risk
RS1258793313
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (210)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057523906 | Health Risk | Pathogenic/Likely pathogenic | FG syndrome 1, MED12-related disorder, Blepharophimosis - intellectual disability syndrome |
| RS1556334519 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, FG syndrome 1, Blepharophimosis - intellectual disability syndrome |
| RS2092347488 | Health Risk | Pathogenic/Likely pathogenic | X-linked intellectual disability with marfanoid habitus, FG syndrome, MED12-related disorder |
| RS2147805923 | Health Risk | Pathogenic/Likely pathogenic | FG syndrome 1, Blepharophimosis - intellectual disability syndrome, MKB type |
| RS2519714036 | Health Risk | Pathogenic/Likely pathogenic | Cholestasis-pigmentary retinopathy-cleft palate syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome |
| RS727503868 | Health Risk | Pathogenic/Likely pathogenic | Blepharophimosis - intellectual disability syndrome, MKB type, Blepharophimosis - intellectual disability syndrome |
| RS80338758 | Health Risk | Pathogenic/Likely pathogenic | FG syndrome 1, 6 conditions, Blepharophimosis - intellectual disability syndrome |
| RS80338759 | Health Risk | Pathogenic/Likely pathogenic | X-linked intellectual disability with marfanoid habitus, FG syndrome 1, FG syndrome |
| RS863223706 | Health Risk | Pathogenic/Likely pathogenic | FG syndrome 1, X-linked intellectual disability with marfanoid habitus, FG syndrome |
| RS879255527 | Health Risk | Pathogenic/Likely pathogenic | FG syndrome 1, MED12-related intellectual disability syndrome, FG syndrome 1 |