MED13 (mediator complex subunit 13)

2014-08-01  

Identity

HGNC
LOCATION
17q23.2
LOCUSID
ALIAS
ARC250,DRIP250,HSPC221,MRD61,THRAP1,TRAP240
FUSION GENES

Other Information

Locus ID:

NCBI: 9969
MIM: 603808
HGNC: 22474
Ensembl: ENSG00000108510

Variants:

dbSNP: 9969
ClinVar: 9969
TCGA: ENSG00000108510
COSMIC: MED13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108510ENST00000397786Q9UHV7
ENSG00000108510ENST00000397786A0A024QZ75
ENSG00000108510ENST00000583958J3QRB7

Expression (GTEx)

0
5
10
15
20
25

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

References

Pubmed IDYearTitleCitations
192401322009The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function.142
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59
254223562014MED13-dependent signaling from the heart confers leanness by enhancing metabolism in adipose tissue and liver.40
261823522015Mediator kinase module and human tumorigenesis.31
297406992018De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.6
271295002016Frameshift Mutations of HSPA4 and MED13 in Gastric and Colorectal Cancers.0

Citation

Dessen P

MED13 (mediator complex subunit 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54448/med13