MED13L (mediator complex subunit 13L)

2007-04-01  

Identity

HGNC
MED13L
LOCATION
12q24.21
LOCUSID
23389
ALIAS
MRFACD,PROSIT240,THRAP2,TRAP240L
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375120362023Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.0
375120362023Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.0
328021982020MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity.12
328021982020MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity.12
291599872018MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.2
295119992018MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.13
291599872018MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.2
295119992018MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.13
283712822017MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.10
286457992017Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.23
283712822017MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.10
286457992017Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.23
275005362016De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?18
275005362016De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?18
252491832015Genome-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/css/lib/deep-insight-explorer/js/haematological-explorer/