MED13L (mediator complex subunit 13L)

2007-04-01  

Identity

HGNC
LOCATION
12q24.21
LOCUSID
ALIAS
MRFACD,PROSIT240,THRAP2,TRAP240L
FUSION GENES

Other Information

Locus ID:

NCBI: 23389
MIM: 608771
HGNC: 22962
Ensembl: ENSG00000123066

Variants:

dbSNP: 23389
ClinVar: 23389
TCGA: ENSG00000123066
COSMIC: MED13L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123066ENST00000281928Q71F56
ENSG00000123066ENST00000548743F8VRB8
ENSG00000123066ENST00000549786H0YHC1
ENSG00000123066ENST00000551197A0A3B3IS36
ENSG00000123066ENST00000647567A0A3B3IS48
ENSG00000123066ENST00000649607A0A3B3IS46
ENSG00000123066ENST00000649775A0A3B3IRS4
ENSG00000123066ENST00000650226A0A3B3IRX3

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Thyroid hormone signaling pathwayKEGGhsa04919
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
252491832015Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
146385412003Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).46
234039032013Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.27
251376402014Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.15
257589922015Redefining the MED13L syndrome.14
222492532012A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest.11
257120802015Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.10
286457992017Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.10
275005362016De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?9

Citation

Dessen P

MED13L (mediator complex subunit 13L)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47174/med13l