Identity
HGNC
LOCATION
12q24.21
LOCUSID
ALIAS
MRFACD,PROSIT240,THRAP2,TRAP240L
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23389
MIM: 608771
HGNC: 22962
Ensembl: ENSG00000123066
Variants:
dbSNP: 23389
ClinVar: 23389
TCGA: ENSG00000123066
COSMIC: MED13L
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37512036 | 2023 | Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome. | 0 |
| 37512036 | 2023 | Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome. | 0 |
| 32802198 | 2020 | MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity. | 12 |
| 32802198 | 2020 | MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity. | 12 |
| 29159987 | 2018 | MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. | 2 |
| 29511999 | 2018 | MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. | 13 |
| 29159987 | 2018 | MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. | 2 |
| 29511999 | 2018 | MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. | 13 |
| 28371282 | 2017 | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. | 10 |
| 28645799 | 2017 | Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. | 23 |
| 28371282 | 2017 | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. | 10 |
| 28645799 | 2017 | Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. | 23 |
| 27500536 | 2016 | De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? | 18 |
| 27500536 | 2016 | De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? | 18 |
| 25249183 | 2015 | Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. | 100 |
Citation
Dessen P
MED13L (mediator complex subunit 13L)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47174/med13l
