MED12 (mediator complex subunit 12)

2011-11-01  

Identity

HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
ARC240,CAGH45,FGS1,HOPA,Kto,MED12S,OHDOX,OKS,OPA1,TNRC11,TRAP230
FUSION GENES

Other Information

Locus ID:

NCBI: 9968
MIM: 300188
HGNC: 11957
Ensembl: ENSG00000184634

Variants:

dbSNP: 9968
ClinVar: 9968
TCGA: ENSG00000184634
COSMIC: MED12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184634ENST00000333646Q7Z3Z5
ENSG00000184634ENST00000374080Q93074
ENSG00000184634ENST00000374102Q93074
ENSG00000184634ENST00000429213H7C191
ENSG00000184634ENST00000444034H7C274

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Thyroid hormone signaling pathwayKEGGhsa04919
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of white adipocyte differentiationREACTOMER-HSA-381340

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
218686282011MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.177
231781172012MED12 controls the response to multiple cancer drugs through regulation of TGF-β receptor signaling.144
192401322009The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function.142
186919672008Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.110
165650902006Mediator is a transducer of Wnt/beta-catenin signaling.106
190473732009The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediator.83
173343632007A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.77
126120782003Principal role of TRAP/mediator and SWI/SNF complexes in Kaposi's sarcoma-associated herpesvirus RTA-mediated lytic reactivation.60
222232662012MED12 mutations in uterine fibroids--their relationship to cytogenetic subgroups.55
250387522014Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.51

Citation

Dessen P

MED12 (mediator complex subunit 12)

Atlas Genet Cytogenet Oncol Haematol. 2011-11-01

Online version: http://atlasgeneticsoncology.org/gene/52444/med12-(mediator-complex-subunit-12)